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Prof. Dr. Blazej Meczekalski
Department of Gynecological Endocrinology, Poznan University of Medical Sciences, Poznan, Poland

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0 Infertility
0 Reproduction
0 hyperandrogenism
0 Menopause
0 Gynecological Endocrinology

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Menopause
Infertility
Reproduction
hyperandrogenism
Puberty and its disorders
Gynecological Endocrinology

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Review
Published: 13 August 2021 in Gynecological Endocrinology
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Hyperthyroidism is a state characterized by elevated serum level of thyroid hormones: thyroxine (T4) and triiodothyronine (T3). This is mainly related to the condition and functioning of the thyroid gland. In 60–80% of cases elevation of these hormones are caused by Grave’s disease. Thyrotoxicosis is an extreme presentation of hyperthyroidism which can, in rare cases, be caused by excessive synthesis of thyroxine by tumor cells. Struma ovarii is a rare ovarian teratoma composed of thyroid tissue in more than 50%. To present a case of a 30-year-old female patient with a past history of Grave’s disease treated by strumectomy 7 years prior; now presenting for the assessment of secondary amenorrhea. Pelvic ultrasound revealed bilateral solid tumors on the left and right ovary, respectively measuring 5 cm and 6 cm in diameter. Her clinical presentation was suggestive of overt hyperthyroidism, and she presented with a significantly elevated CA-125 (152.7 U/mL). The patient subsequently underwent a bilateral oophorectomy in which both masses were excised and histopathological examination confirmed teratoma maturum cysticum. Struma ovarii was noted as a component of the left ovary teratoma. Establishing a proper diagnosis of hyperthyroidism and elucidating its origin is often challenging. Struma ovarii is a rare cause of hyperthyroidism but should always be considered in case of treatment resistant hyperthyroidism. This case-report lends itself as an example of the value in maintaining gynecological-endocrinological knowledge in the setting if clinical gynecology.

ACS Style

Agnieszka Podfigurna; Anna Szeliga; Paulina Horwat; Marzena Maciejewska-Jeske; Blazej Meczekalski. Hyperthyroidism associated with struma ovarii – a case report and review of literature. Gynecological Endocrinology 2021, 1 -8.

AMA Style

Agnieszka Podfigurna, Anna Szeliga, Paulina Horwat, Marzena Maciejewska-Jeske, Blazej Meczekalski. Hyperthyroidism associated with struma ovarii – a case report and review of literature. Gynecological Endocrinology. 2021; ():1-8.

Chicago/Turabian Style

Agnieszka Podfigurna; Anna Szeliga; Paulina Horwat; Marzena Maciejewska-Jeske; Blazej Meczekalski. 2021. "Hyperthyroidism associated with struma ovarii – a case report and review of literature." Gynecological Endocrinology , no. : 1-8.

Review
Published: 24 July 2021 in Endocrines
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The aim of the study is to present the problem of functional hypothalamic amenorrhea, taking into account any disease and treatment, diagnosis, and consequences of this disease. We searched PubMed (MEDLINE) and included 38 original and review articles concerning functional hypothalamic amenorrhea. Functional hypothalamic amenorrhea is the most common cause of secondary amenorrhea in women of childbearing age. It is a reversible disorder caused by stress related to weight loss, excessive exercise and/or traumatic mental experiences. The basis of functional hypothalamic amenorrhea is hormonal, based on impaired pulsatile GnRH secretion in the hypothalamus, then decreased secretion of gonadotropins, and, consequently, impaired hormonal function of the ovaries. This disorder leads to hypoestrogenism, manifested by a disturbance of the menstrual cycle in the form of amenorrhea, leading to anovulation. Prolonged state of hypoestrogenism can be very detrimental to general health, leading to many harmful short- and long-term consequences. Treatment of functional hypothalamic amenorrhea should be started as soon as possible, and it should primarily involve lifestyle modification. Only then should pharmacological treatment be applied. Importantly, treatment is most often long-term, but it results in recovery for the majority of patients. Effective therapy, based on multidirectional action, can protect patients from numerous negative impacts on fertility, cardiovascular system and bone health, as well as reducing mental morbidity.

ACS Style

Agnieszka Podfigurna; Blazej Meczekalski. Functional Hypothalamic Amenorrhea: A Stress-Based Disease. Endocrines 2021, 2, 203 -211.

AMA Style

Agnieszka Podfigurna, Blazej Meczekalski. Functional Hypothalamic Amenorrhea: A Stress-Based Disease. Endocrines. 2021; 2 (3):203-211.

Chicago/Turabian Style

Agnieszka Podfigurna; Blazej Meczekalski. 2021. "Functional Hypothalamic Amenorrhea: A Stress-Based Disease." Endocrines 2, no. 3: 203-211.

Review article
Published: 10 July 2021 in Maturitas
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The transition to menopause, usually occurring between the ages of 40 and 55, is a time when women are particularly vulnerable. When preexisting mental illness is present, symptoms are often amplified during this period. Moreover, women with mental illnesses experience menopausal symptoms similarly to healthy women. In this narrative review we summarize the current data regarding menopause in women with schizophrenia, schizoaffective disorder, and bipolar disorder, as well as current standards of management and care. The management of chronic disease in women suffering from severe mental illness is also considered.

ACS Style

Anna Szeliga; Bogdan Stefanowski; Blazej Meczekalski; Milena Snopek; Anna Kostrzak; Roman Smolarczyk; Gregory Bala; Anna Duszewska; Katarzyna Smolarczyk; Marzena Maciejewska-Jeske. Menopause in women with schizophrenia, schizoaffective disorder and bipolar disorder. Maturitas 2021, 1 .

AMA Style

Anna Szeliga, Bogdan Stefanowski, Blazej Meczekalski, Milena Snopek, Anna Kostrzak, Roman Smolarczyk, Gregory Bala, Anna Duszewska, Katarzyna Smolarczyk, Marzena Maciejewska-Jeske. Menopause in women with schizophrenia, schizoaffective disorder and bipolar disorder. Maturitas. 2021; ():1.

Chicago/Turabian Style

Anna Szeliga; Bogdan Stefanowski; Blazej Meczekalski; Milena Snopek; Anna Kostrzak; Roman Smolarczyk; Gregory Bala; Anna Duszewska; Katarzyna Smolarczyk; Marzena Maciejewska-Jeske. 2021. "Menopause in women with schizophrenia, schizoaffective disorder and bipolar disorder." Maturitas , no. : 1.

Original article
Published: 28 May 2021 in Gynecological Endocrinology
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The main aim of this prospective study was to investigate the relationship between intrafollicular vitamin D and anti-Müllerian hormone (AMH) concentration and its impact on oocyte quality and developmental competence. The analysis was performed on 208 follicular fluid (FF) samples obtained from 33 patients undergoing ovarian stimulation as part of in vitro fertilization (IVF) treatment that included intracytoplasmic sperm injection. Our study shows that vitamin D concentration in FF varies according to the developmental stage of the oocyte and corelates with embryo development status on day 3, while AMH concentration in FF is not correlated with the developmental potential of an oocyte. We demonstrated that the levels of vitamin D and AMH were higher in FF than in serum. Moreover we showed that AMH and vitamin D levels were positively correlated in FF but not in serum. FF-AMH levels do not appear to be a suitable as noninvasive test of the developmental potential of an oocyte, while FF-vitamin D level can be used to evaluate whether embryos obtained from particular oocytes have potential of reaching the third day of culture. However, our results encourage further research to be carried out on a larger number of patients and testing additional components found in FF such as androgens.

ACS Style

Patrycja Skowrońska; Michał Kunicki; Ewa Pastuszek; Lucyna Konieczna; Tomasz Bączek; Błażej Męczekalski; Roman Smolarczyk; Krzysztof Łukaszuk. Vitamin D and anti-Müllerian hormone concentration in human follicular fluid individually aspirated from all patient follicles. Gynecological Endocrinology 2021, 1 -5.

AMA Style

Patrycja Skowrońska, Michał Kunicki, Ewa Pastuszek, Lucyna Konieczna, Tomasz Bączek, Błażej Męczekalski, Roman Smolarczyk, Krzysztof Łukaszuk. Vitamin D and anti-Müllerian hormone concentration in human follicular fluid individually aspirated from all patient follicles. Gynecological Endocrinology. 2021; ():1-5.

Chicago/Turabian Style

Patrycja Skowrońska; Michał Kunicki; Ewa Pastuszek; Lucyna Konieczna; Tomasz Bączek; Błażej Męczekalski; Roman Smolarczyk; Krzysztof Łukaszuk. 2021. "Vitamin D and anti-Müllerian hormone concentration in human follicular fluid individually aspirated from all patient follicles." Gynecological Endocrinology , no. : 1-5.

Case report
Published: 07 May 2021 in Gynecological Endocrinology
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The aims of the presented case report are to emphasize the importance of a proper diagnostics and treatment in the case of the coexistence of Klinefelter syndrome (KS, 47 XXY) and complete androgen insensitivity syndrome (CAIS). Since there is no causal treatment it is necessary to provide the patient with a good quality of life, including psychological and sexological support. The presented case report is the retrospective analysis of the patient’s medical history over the 3 years. At the age of 15, the patient was directed to genetic testing due to primary amenorrhea. The results of the patient showed an incorrect male karyotype with the SRY gene present (47, XXY). A molecular diagnostics revealed a very rare variant of the androgen receptor (AR) mutation responsible for tissue insensitivity to androgens. The detected mutation has not been described in the available databases so far. Following a diagnosis of the presence of Klinefelter syndrome (KS, 47 XXY) together with complete androgen insensitivity syndrome (CAIS), the patient underwent a bilateral gonadectomy. In women with KS and CAIS physiological reproduction and maintenance of normal sex, hormone levels are not possible. A gonadectomy is performed due to the risk of malignant testicular tumors.

ACS Style

Karolina Skalska; Maciej Ziółkowski; Adrian Skoczylas; Marta Teleon; Monika Grymowicz; Agnieszka Pollak; Roman Smolarczyk; Rafał Płoski; Błażej Męczekalski. 18-Year-old patient with Klinefelter syndrome (47, XXY) and complete androgen insensitivity syndrome (CAIS) – case report. Gynecological Endocrinology 2021, 37, 572 -575.

AMA Style

Karolina Skalska, Maciej Ziółkowski, Adrian Skoczylas, Marta Teleon, Monika Grymowicz, Agnieszka Pollak, Roman Smolarczyk, Rafał Płoski, Błażej Męczekalski. 18-Year-old patient with Klinefelter syndrome (47, XXY) and complete androgen insensitivity syndrome (CAIS) – case report. Gynecological Endocrinology. 2021; 37 (6):572-575.

Chicago/Turabian Style

Karolina Skalska; Maciej Ziółkowski; Adrian Skoczylas; Marta Teleon; Monika Grymowicz; Agnieszka Pollak; Roman Smolarczyk; Rafał Płoski; Błażej Męczekalski. 2021. "18-Year-old patient with Klinefelter syndrome (47, XXY) and complete androgen insensitivity syndrome (CAIS) – case report." Gynecological Endocrinology 37, no. 6: 572-575.

Review article
Published: 24 March 2021 in Gynecological Endocrinology
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Hyperthecosis is defined as the presence of nests of luteinized theca cells in the ovarian stroma. Persistent testosterone released by ovarian theca cells is unmasked postmenopausally through the loss of granulosa cell-mediated aromatization of testosterone to estradiol. Ovarian hyperthecosis (OH) usually presents with symptoms of hyperandrogenism and is often described as a severe or extreme form of Polycystic Ovary Syndrome (PCOS). Serum testosterone levels in excess of 150 ng/dl (>5.2 nmol/l) are seen in affected patients and this threshold is used to confirm a diagnosis. Treatment of hyperthecosis is multi-faceted. It addresses the attendant hyperandrogenism (hirsutism and virilization) as well as metabolic complications such as obesity and insulin resistance. Ultimately, laparoscopic bilateral salpingo-oophorectomy is definitive treatment. This remains the treatment of choice in postmenopausal women whereas treatment using GnRH agonists may be used in women of reproductive age, especially younger women. Nevertheless, if serum testosterone remains elevated despite several months of therapy with a GnRH agonist, surgery is often required for biopsy sample collection and further definitive therapy. In order to mitigate the common clinical manifestations of hyperandrogenism, anti-androgen therapy (either cyproterone acetate or spironolactone) may be used to suppress the actions of testosterone on tissues. In patients with impaired glucose metabolism and insulin resistance, Metformin should also be considered as part of treatment. Combined, such a treatment regimen will often lead to decreased ovarian androgen secretion.

ACS Style

Blazej Meczekalski; Anna Szeliga; Marzena Maciejewska-Jeske; Agnieszka Podfigurna; Paulina Cornetti; Gregory Bala; Eli Y. Adashi. Hyperthecosis: an underestimated nontumorous cause of hyperandrogenism. Gynecological Endocrinology 2021, 1 -6.

AMA Style

Blazej Meczekalski, Anna Szeliga, Marzena Maciejewska-Jeske, Agnieszka Podfigurna, Paulina Cornetti, Gregory Bala, Eli Y. Adashi. Hyperthecosis: an underestimated nontumorous cause of hyperandrogenism. Gynecological Endocrinology. 2021; ():1-6.

Chicago/Turabian Style

Blazej Meczekalski; Anna Szeliga; Marzena Maciejewska-Jeske; Agnieszka Podfigurna; Paulina Cornetti; Gregory Bala; Eli Y. Adashi. 2021. "Hyperthecosis: an underestimated nontumorous cause of hyperandrogenism." Gynecological Endocrinology , no. : 1-6.

Review
Published: 05 March 2021 in International Journal of Molecular Sciences
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Premature ovarian insufficiency (POI), previously known as premature ovarian failure or premature menopause, is defined as loss of ovarian function before the age of 40 years. The risk of POI before the age of 40 is 1%. Clinical symptoms develop as a result of estrogen deficiency and may include amenorrhea, oligomenorrhea, vasomotor instability (hot flushes, night sweats), sleep disturbances, vulvovaginal atrophy, altered urinary frequency, dyspareunia, low libido, and lack of energy. Most causes of POI remain undefined, however, it is estimated that anywhere from 4–30% of cases are autoimmune in origin. As the ovaries are a common target for autoimmune attacks, an autoimmune etiology of POI should always be considered, especially in the presence of anti-oocyte antibodies (AOAs), autoimmune diseases, or lymphocytic oophoritis in biopsy. POI can occur in isolation, but is often associated with other autoimmune conditions. Concordant thyroid disorders such as hypothyroidism, Hashimoto thyroiditis, and Grave’s disease are most commonly seen. Adrenal autoimmune disorders are the second most common disorders associated with POI. Among women with diabetes mellitus, POI develops in roughly 2.5%. Additionally, autoimmune-related POI can also present as part of autoimmune polyglandular syndrome (APS), a condition in which autoimmune activity causes specific endocrine organ damage. In its most common presentation (type-3), APS is associated with Hashomoto’s type thyroid antibodies and has a prevalence of 10–40%. 21OH-Antibodies in Addison’s disease (AD) can develop in association to APS-2.

ACS Style

Anna Szeliga; Anna Calik-Ksepka; Marzena Maciejewska-Jeske; Monika Grymowicz; Katarzyna Smolarczyk; Anna Kostrzak; Roman Smolarczyk; Ewa Rudnicka; Blazej Meczekalski. Autoimmune Diseases in Patients with Premature Ovarian Insufficiency—Our Current State of Knowledge. International Journal of Molecular Sciences 2021, 22, 2594 .

AMA Style

Anna Szeliga, Anna Calik-Ksepka, Marzena Maciejewska-Jeske, Monika Grymowicz, Katarzyna Smolarczyk, Anna Kostrzak, Roman Smolarczyk, Ewa Rudnicka, Blazej Meczekalski. Autoimmune Diseases in Patients with Premature Ovarian Insufficiency—Our Current State of Knowledge. International Journal of Molecular Sciences. 2021; 22 (5):2594.

Chicago/Turabian Style

Anna Szeliga; Anna Calik-Ksepka; Marzena Maciejewska-Jeske; Monika Grymowicz; Katarzyna Smolarczyk; Anna Kostrzak; Roman Smolarczyk; Ewa Rudnicka; Blazej Meczekalski. 2021. "Autoimmune Diseases in Patients with Premature Ovarian Insufficiency—Our Current State of Knowledge." International Journal of Molecular Sciences 22, no. 5: 2594.

Review
Published: 22 February 2021 in International Journal of Molecular Sciences
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Sexually transmitted infections (STIs) caused by Neisseria gonorrhoeae, Chlamydia trachomatis and Mycoplasma genitalium are a common cause of pelvic inflammatory disease (PID) which can lead to tubal factor infertility (TFI). TFI is one of the most common causes of infertility, accounting for 30% of female fertility problems. STIs can also have an impact on pregnancy, leading to adverse pregnancy outcomes. Escalating antibiotic resistance in Neisseria gonorrhoeae and Mycoplasma genitalium represents a significant problem and can be therapeutically challenging. We present a comprehensive review of the current treatment options, as well as the molecular approach to this subject. We have given special attention to molecular epidemiology, molecular diagnostics, current and new treatments, and drug resistance.

ACS Style

Katarzyna Smolarczyk; Beata Mlynarczyk-Bonikowska; Ewa Rudnicka; Dariusz Szukiewicz; Blazej Meczekalski; Roman Smolarczyk; Wojciech Pieta. The Impact of Selected Bacterial Sexually Transmitted Diseases on Pregnancy and Female Fertility. International Journal of Molecular Sciences 2021, 22, 2170 .

AMA Style

Katarzyna Smolarczyk, Beata Mlynarczyk-Bonikowska, Ewa Rudnicka, Dariusz Szukiewicz, Blazej Meczekalski, Roman Smolarczyk, Wojciech Pieta. The Impact of Selected Bacterial Sexually Transmitted Diseases on Pregnancy and Female Fertility. International Journal of Molecular Sciences. 2021; 22 (4):2170.

Chicago/Turabian Style

Katarzyna Smolarczyk; Beata Mlynarczyk-Bonikowska; Ewa Rudnicka; Dariusz Szukiewicz; Blazej Meczekalski; Roman Smolarczyk; Wojciech Pieta. 2021. "The Impact of Selected Bacterial Sexually Transmitted Diseases on Pregnancy and Female Fertility." International Journal of Molecular Sciences 22, no. 4: 2170.

Journal article
Published: 07 December 2020 in Journal of Clinical Medicine
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Premature ovarian insufficiency (POI) is a type of hypergonadotropic hypogonadism caused by impaired ovarian function before the age of 40. Due to the hypoestrogenism, women with POI experience a variety of health complications, including an increased risk of bone mineral density loss and developing osteopenia and osteoporosis, which poses an important problem for public health. Purpose: The aim of this study was to evaluate and compare the values of bone mineral density (BMD), T-score and Z-score within the lumbar spine (L1-L4) using the dual energy X-ray absorptiometry method. The dual-energy X-ray absorptiometry (DXA) scans described in this original prospective article were performed at the time of POI diagnosis and after treatment with sequential hormone replacement therapy (HRT). Materials and methods: This study included 132 patients with a mean age of 31.86 ± 7.75 years who had been diagnosed with idiopathic POI. The control group consisted of 17 healthy women with regular menstrual cycles, with a mean age of 23.21 ± 5.86 years. Serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), 17-estradiol (E2), prolactin (PRL), testosterone (T), dehydroepiandrosterone sulfate (DHEA-S), thyroid-stimulating hormone (TSH), free thyroxine (fT4), insulin, and fasting serum glucose were measured. Lumbar spine (L1-L4) BMD was assessed by means of dual-energy X-ray absorptiometry. DXA scans were performed at the time of diagnosis and following treatment with sequential hormone replacement therapy (HRT) comprised of daily oral 2 mg 17-β-estradiol and 10 mg dydrogesterone. The mean time of observation was 3 ± 2 years. Results: Patients in the POI group presented with characteristic hypergonadotropic hypogonadism. They had a significantly decreased mean lumbar spine BMD when compared to healthy controls (1.088 ± 0.14 g/cm2) vs. 1.150 ± 0.30 g/cm2) (p = 0.04) as well as a decreased T-score (0.75 ± 1.167 vs. −0.144 ± 0.82) (p = 003). There was a significant increase in BMD (1.088 ± 0.14 vs. 1.109 ± 0.14; p < 0.001), T-score (−0.75 ± 1.17 vs. −0.59 ± 1.22; p < 0.001), and Z-score (−0.75 ± 1.12 vs. −0.49 ± 1.11; p < 0.001) after the implementation of HRT when compared to pre-treatment results. Conclusions: In conclusion, this study has demonstrated that patients with POI often have decreased bone mineral density and that the implementation of HRT has a significant and positive influence on bone mass. The implementation of full-dose HRT and monitoring of bone status is particularly important in these patients.

ACS Style

Agnieszka Podfigurna; Marzena Maciejewska-Jeske; Malgorzata Nadolna; Paula Mikolajska-Ptas; Anna Szeliga; Przemyslaw Bilinski; Paulina Napierala; Blazej Meczekalski. Impact of Hormonal Replacement Therapy on Bone Mineral Density in Premature Ovarian Insufficiency Patients. Journal of Clinical Medicine 2020, 9, 3961 .

AMA Style

Agnieszka Podfigurna, Marzena Maciejewska-Jeske, Malgorzata Nadolna, Paula Mikolajska-Ptas, Anna Szeliga, Przemyslaw Bilinski, Paulina Napierala, Blazej Meczekalski. Impact of Hormonal Replacement Therapy on Bone Mineral Density in Premature Ovarian Insufficiency Patients. Journal of Clinical Medicine. 2020; 9 (12):3961.

Chicago/Turabian Style

Agnieszka Podfigurna; Marzena Maciejewska-Jeske; Malgorzata Nadolna; Paula Mikolajska-Ptas; Anna Szeliga; Przemyslaw Bilinski; Paulina Napierala; Blazej Meczekalski. 2020. "Impact of Hormonal Replacement Therapy on Bone Mineral Density in Premature Ovarian Insufficiency Patients." Journal of Clinical Medicine 9, no. 12: 3961.

Original article
Published: 11 September 2020 in Endocrine
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Purpose Functional hypothalamic amenorrhea (FHA) occurs in response to exaggerated stressors with or without body weight loss. Various hormones, neurotransmitters, and neuromodulators are involved in the control of GnRH and kisspeptin is one of them. Our study aimed to evaluate the putative temporal coupling between kisspeptin and GnRH-induced LH pulsatile secretion. Methods In total, 71 patients with FHA were selected for this study. All patients undergo to a pulsatility study for LH and kisspeptin evaluation (120 min, sampling every 10 min), and to an endocrine evaluation for prolactin (PRL), estradiol (E2), androstenedione (A), 17-hydroxy-progesterone (17OHP), TSH, fT3, fT4, insulin, cortisol and testosterone (T), glucose, total cholesterol, triglycerides. Results Our data demonstrated kisspeptin and LH pulsatile secretions and that both hormones are co-secreted and temporally coupled at time 0 (p < 0.05). When patients were subdivided in hypo-LH (≤3 mIU/ml, n = 58) and normo-LH (>3 mIU/ml, n = 13), more insights were observed on the specific correlations of metabolic and hormone profiles with pulsatility indexes of LH and kisspeptin. Conclusions Our study demonstrated the presence of a distinct kisspeptin episodic secretion in patients with FHA, and showed the temporally coupling of kisspeptin with LH secretory episodes thus supporting that though in amenorrhea, the reproductive axis is still relying on kisspeptin to drive GnRH discharge. In addition, correlations among hormonal data sustain the hypothesis that stress-induced compensatory events are the main direct and indirect promoters of the reproductive blockade in patients affected by FHA.

ACS Style

Agnieszka Podfigurna; Marzena Maciejewska-Jeske; Blazej Meczekalski; Alessandro D. Genazzani. Kisspeptin and LH pulsatility in patients with functional hypothalamic amenorrhea. Endocrine 2020, 70, 635 -643.

AMA Style

Agnieszka Podfigurna, Marzena Maciejewska-Jeske, Blazej Meczekalski, Alessandro D. Genazzani. Kisspeptin and LH pulsatility in patients with functional hypothalamic amenorrhea. Endocrine. 2020; 70 (3):635-643.

Chicago/Turabian Style

Agnieszka Podfigurna; Marzena Maciejewska-Jeske; Blazej Meczekalski; Alessandro D. Genazzani. 2020. "Kisspeptin and LH pulsatility in patients with functional hypothalamic amenorrhea." Endocrine 70, no. 3: 635-643.

Case report
Published: 18 June 2020 in International Journal of Environmental Research and Public Health
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Background: Many studies show the occurrence of several multiple endocrine neoplasia syndromes caused by different mutations, for example, in MEN1 and RET genes. Nevertheless, there are less common mutations causing multiple endocrine glands tumors. Examples of such mutations are CHEK2 gene mutations, causing breast, kidney, gastric, colorectal, prostate, lung, ovarian, and thyroid cancers. Case description: In 2005, a 30-year-old woman was admitted to the hospital due to uncontrolled hypertension and obesity. Performed tests have shown ACTH (adrenocorticotropic hormone)—independent micronodular adrenal hyperplasia (AIMAH) as a cause. In 2010, the further diagnostic analysis revealed Cushing’s disease caused by ACTH-secreting pituitary microadenoma. Additionally, in 2011, the patient underwent the strumectomy of multinodular struma. Papillary thyroid carcinoma was found in the excised tissue. In 2018, transvaginal ultrasonography revealed a tumor of the right ovary. After a performed hysterectomy with bilateral salpingo-oophorectomy, the histopathology result has shown female adnexal tumors of probable Wolffian origin (FATWO) located in the broad ligament of the uterus. Due to the history of multiglandular diseases, the patient was referred to genetic testing. We found a positive pathogenic mutation in CHEK2-suppressor gene involved in DNA repair, cell cycle arrest, and apoptosis in response to DNA damage. Conclusion: CHEK2 variants may predispose to a range of endocrine glands tumors, including those identified in our patient. Multiple endocrine glands tumors, as in the presented patient, are a serious problem of public health, due to numerous hospitalizations and necessary repeated surgical treatments. Moreover, the association between CHEK2 and ovarian cancer can be a serious problem with reproductive health.

ACS Style

Anna Szeliga; Aleksandra Pralat; Wiktoria Witczak; Agnieszka Podfigurna; Cezary Wojtyla; Anna Kostrzak; Blazej Meczekalski. CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report. International Journal of Environmental Research and Public Health 2020, 17, 1 .

AMA Style

Anna Szeliga, Aleksandra Pralat, Wiktoria Witczak, Agnieszka Podfigurna, Cezary Wojtyla, Anna Kostrzak, Blazej Meczekalski. CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report. International Journal of Environmental Research and Public Health. 2020; 17 (12):1.

Chicago/Turabian Style

Anna Szeliga; Aleksandra Pralat; Wiktoria Witczak; Agnieszka Podfigurna; Cezary Wojtyla; Anna Kostrzak; Blazej Meczekalski. 2020. "CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report." International Journal of Environmental Research and Public Health 17, no. 12: 1.

Book chapter
Published: 29 May 2020 in Endocrinology
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The climacteric is the phase in the aging of women characterized by transition from the reproductive phase to the nonreproductive state. A woman is considered postmenopausal when she is over the age of 45 and has gone at least 12 months without a spontaneous menstrual period. The climacteric is sometimes, but not indispensable, associated with symptomatology. Symptoms associated with climacteric, such as hot flushes, night sweats, fatigue, headache, dizziness, numb, sore limbs, decreased attention, anxiousness and nervousness, insomnia, mood swings, and sorrow depression, are called “climacteric syndrome.” Women during menopausal transition are particularly vulnerable to mood disturbances and depression. This period is regarded as the important risk of these disorders. Depressive symptoms present increasing tendency during menopausal transition and decreasing tendency after menopause. Mood changes during menopausal transition have detrimental effects on these women’s quality of life. Decline of cognitive function during menopausal transition and menopause is referred to aging and to direct and indirect effects of hormonal changes on the brain. Direct effects concern direct influences of hormonal changes on the regions of neuronal system responsible for cognitive function control. Indirect effects are related to hormonal change influences on the brain which have impact on other symptoms like sleep, mood changes, and vasomotor symptoms. Vasomotor symptoms (VMS), which include hot flushes and night sweats, affect 70% of postmenopausal women <55 years of age. VMS often severely impact physical, sexual, and psychosocial life and overall well-being. Symptoms usually last from 6 to 10 years (median 7.4 years), and most women report that VMS are the most bothersome of all postmenopausal symptoms. Sleep disturbances are very meaningly affected by other menopausal symptoms such as hot flushes. Sleep disturbances may occur in the form of insomnia, sleep-disordered breathing, restless legs syndrome (RLS), mood and anxiety disorders, and other medical diseases associated with vasomotor symptoms and aging.

ACS Style

Agnieszka Podfigurna; Anna Szeliga; Błażej Męczekalski. Climacteric Syndrome. Endocrinology 2020, 309 -334.

AMA Style

Agnieszka Podfigurna, Anna Szeliga, Błażej Męczekalski. Climacteric Syndrome. Endocrinology. 2020; ():309-334.

Chicago/Turabian Style

Agnieszka Podfigurna; Anna Szeliga; Błażej Męczekalski. 2020. "Climacteric Syndrome." Endocrinology , no. : 309-334.

Article
Published: 14 March 2020 in Gynecological Endocrinology
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In vitro fertilization can be considered as causative factor of increasing rate of multiple pregnancies. Analysis of factors contributing to reduction in the percentage of multiple pregnancies may contribute to overall improvement of ART results. We compared annual reports from The Australian and New Zealand Assisted Reproduction Database and US National Summary Reports presented by The Centers for Disease Control and Prevention. The aim of this study was to analyze results of ART outcomes in two countries presenting opposite approach to ART, particularly to number of transferred embryos and number of eSETs (elective single embryo transfers). We found significant increase in total number of initiated cycles and transfers with significant shift toward frozen cycles and transfers in both countries. Percentage of eSET increased while average number of embryos transferred per one transfer decreased significantly in both countries without significant difference between countries. We also noticed significant decrease in the rate of multiple pregnancies and percentage of pregnancies resulting in triplets in Australia with New Zealand. Decreasing number of multiple pregnancies and higher percentage of transfers and pregnancies resulting in singleton live birth are the changes in ART politics found in our analysis. United States of America have more significant changes toward eSET, although Australia and New Zealand have significantly higher percentage of eSET from the beginning of analysis.

ACS Style

Blazej Meczekalski; Anna Szeliga; Agnieszka Podfigurna; Izabela Miechowicz; Eli Y. Adashi. Assisted reproductive technology outcome in United States of America and Australia with New Zealand: comparison of annual reports 2005–2016. Gynecological Endocrinology 2020, 36, 959 -967.

AMA Style

Blazej Meczekalski, Anna Szeliga, Agnieszka Podfigurna, Izabela Miechowicz, Eli Y. Adashi. Assisted reproductive technology outcome in United States of America and Australia with New Zealand: comparison of annual reports 2005–2016. Gynecological Endocrinology. 2020; 36 (11):959-967.

Chicago/Turabian Style

Blazej Meczekalski; Anna Szeliga; Agnieszka Podfigurna; Izabela Miechowicz; Eli Y. Adashi. 2020. "Assisted reproductive technology outcome in United States of America and Australia with New Zealand: comparison of annual reports 2005–2016." Gynecological Endocrinology 36, no. 11: 959-967.

Journal article
Published: 27 February 2020 in Gynecological Endocrinology
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This review updates the knowledge regarding the association between the polycystic ovary syndrome (PCOS) and the risk of gynecological cancer. We performed a literature review of clinical and epidemiological studies concerning PCOS and the risk of breast, endometrial and ovarian cancer after selecting information by quality of scientific methodology. It was found that evidence does not support a link between PCOS and breast cancer risk. There is an increased risk of endometrial cancer, while data concerning ovarian cancer are contradictory. Regarding PCOS and its association to cervical, fallopian tube, and vulvar cancer, the quality of evidence is heterogeneous. In conclusion, women with PCOS should be screened for endometrial cancer and more research is warranted to determine in this population the true risk of developing other gynecological cancers such as breast and ovarian.

ACS Style

Blazej Meczekalski; Gonzalo R. Pérez-Roncero; María T. López-Baena; Peter Chedraui; Faustino R. Pérez-López. The polycystic ovary syndrome and gynecological cancer risk. Gynecological Endocrinology 2020, 36, 289 -293.

AMA Style

Blazej Meczekalski, Gonzalo R. Pérez-Roncero, María T. López-Baena, Peter Chedraui, Faustino R. Pérez-López. The polycystic ovary syndrome and gynecological cancer risk. Gynecological Endocrinology. 2020; 36 (4):289-293.

Chicago/Turabian Style

Blazej Meczekalski; Gonzalo R. Pérez-Roncero; María T. López-Baena; Peter Chedraui; Faustino R. Pérez-López. 2020. "The polycystic ovary syndrome and gynecological cancer risk." Gynecological Endocrinology 36, no. 4: 289-293.

Reference work
Published: 02 January 2020 in Endocrinology
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The climacteric is the phase in the aging of women characterized by transition from the reproductive phase to the nonreproductive state. A woman is considered postmenopausal when she is over the age of 45 and has gone at least 12 months without a spontaneous menstrual period. The climacteric is sometimes, but not indispensable, associated with symptomatology. Symptoms associated with climacteric, such as hot flushes, night sweats, fatigue, headache, dizziness, numb, sore limbs, decreased attention, anxiousness and nervousness, insomnia, mood swings, and sorrow depression, are called “climacteric syndrome.” Women during menopausal transition are particularly vulnerable to mood disturbances and depression. This period is regarded as the important risk of these disorders. Depressive symptoms present increasing tendency during menopausal transition and decreasing tendency after menopause. Mood changes during menopausal transition have detrimental effects on these women’s quality of life. Decline of cognitive function during menopausal transition and menopause is referred to aging and to direct and indirect effects of hormonal changes on the brain. Direct effects concern direct influences of hormonal changes on the regions of neuronal system responsible for cognitive function control. Indirect effects are related to hormonal change influences on the brain which have impact on other symptoms like sleep, mood changes, and vasomotor symptoms. Vasomotor symptoms (VMS), which include hot flushes and night sweats, affect 70% of postmenopausal women <55 years of age. VMS often severely impact physical, sexual, and psychosocial life and overall well-being. Symptoms usually last from 6 to 10 years (median 7.4 years), and most women report that VMS are the most bothersome of all postmenopausal symptoms. Sleep disturbances are very meaningly affected by other menopausal symptoms such as hot flushes. Sleep disturbances may occur in the form of insomnia, sleep-disordered breathing, restless legs syndrome (RLS), mood and anxiety disorders, and other medical diseases associated with vasomotor symptoms and aging.

ACS Style

Agnieszka Podfigurna; Anna Szeliga; Błażej Męczekalski. Climacteric Syndrome. Endocrinology 2020, 1 -26.

AMA Style

Agnieszka Podfigurna, Anna Szeliga, Błażej Męczekalski. Climacteric Syndrome. Endocrinology. 2020; ():1-26.

Chicago/Turabian Style

Agnieszka Podfigurna; Anna Szeliga; Błażej Męczekalski. 2020. "Climacteric Syndrome." Endocrinology , no. : 1-26.

Review
Published: 14 December 2019 in Journal of Endocrinological Investigation
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Recent studies have found that kisspeptin/neurokinin B/dynorphin neurons (KNDy neurons) in the infundibular nucleus play a crucial role in the reproductive axis. Analogs, both agonists and antagonists, of kisspeptin and neurokinin B (NKB) are particularly important in explaining the physiological role of KNDy in the reproductive axis in animals. The use of kisspeptin and NKB analogs has helped elucidate the regulators of the hypothalamic reproductive axis. This review describes therapeutic uses of Kiss-1 and NKB agonists, most obviously the use of kisspeptin agonists in the treatment for infertility and the induction of ovulation. Kisspeptin antagonists may have potential clinical applications in patients suffering from diseases associated with enhanced LH pulse frequency, such as polycystic ovary syndrome or menopause. The inhibition of pubertal development using Kiss antagonists may be used as a therapeutic option in precocious puberty. Kisspeptin antagonists have been found capable of inhibiting ovulation and have been proposed as novel contraceptives. Hypothalamic amenorrhea and delayed puberty are conditions in which normalization of LH secretion may potentially be achieved by treatment with both kisspeptin and NKB agonists. NKB antagonists are used to treat vasomotor symptoms in postmenopausal women, providing rapid relief of symptoms while supplanting the need for exogenous estrogen exposure. There is a wide spectrum of therapeutic uses of Kiss-1 and NKB agonists, including the management of infertility, treatment for PCOS, functional hypothalamic amenorrhea or postmenopausal vasomotor symptoms, as well as contraceptive issues. Nevertheless, further research is needed before kisspeptin and NKB analogs are fully incorporated in clinical practice.

ACS Style

A. Szeliga; A. Podfigurna; G. Bala; B. Meczekalski. Kisspeptin and neurokinin B analogs use in gynecological endocrinology: where do we stand? Journal of Endocrinological Investigation 2019, 43, 555 -561.

AMA Style

A. Szeliga, A. Podfigurna, G. Bala, B. Meczekalski. Kisspeptin and neurokinin B analogs use in gynecological endocrinology: where do we stand? Journal of Endocrinological Investigation. 2019; 43 (5):555-561.

Chicago/Turabian Style

A. Szeliga; A. Podfigurna; G. Bala; B. Meczekalski. 2019. "Kisspeptin and neurokinin B analogs use in gynecological endocrinology: where do we stand?" Journal of Endocrinological Investigation 43, no. 5: 555-561.

Case report
Published: 13 November 2019 in Gynecological Endocrinology
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Approximately, 5% of ovarian tumors have hormonal activity. Steroid cell tumors (SCTs) represent about 0.1% of all ovarian tumors. They cause hyperandrogenism associated with typical virilization. In this case report, we present 45-year-old women with unmalignant ovarian SCT-producing androgens which cause severe virilization and secondary amenorrhea lasting two years. Transvaginal ultrasound, computed tomography of adrenal glands, magnetic resonance imaging of small pelvis, laboratory tests (including serum concentration of FSH, LH, testosterone (T), androstenedione (A), dehydroepiandrosterone sulfate (DHEA-S), as well as ROMA index) were performed. During hormonal evaluation, elevated concentrations of serum T – on admission 1.72 ng/ml and one month later 3.75 ng/ml (normal range 0.08–0.82 ng/ml) and A – 24.90 ng/ml (normal range 0.40–3.40 ng/ml) were found. The ROMA index was within the normal range. Enlargement of the left ovary by solid mass 56 × 43 mm was found during ultrasound examination. Based on small pelvis MRI scan and hormonal finding, patient was qualified for laparotomy. During this procedure, the left salpingo-oophorectomy with removal of the tumor was performed. The histopathological examination identified SCT. During follow-up examination, one day after surgery, we found serum testosterone levels within normal ranges – 0.74 ng/ml (normal range 0.08–0.82 ng/ml). This case shows that hormone-producing ovarian tumors are rare but very important clinical causes of severe hyperandrogenism.

ACS Style

Anna Szeliga; Aleksandra Zysnarska; Agnieszka Podfigurna; Marzena Maciejewska-Jeske; Rafał Moszyński; Stefan Sajdak; Piotr Jasiński; Andrzej Frankowski; Andrea R. Genazzani; Błażej Męczekalski. Ovarian steroid cell tumor as an example of severe hyperandrogenism in 45-year-old woman. Gynecological Endocrinology 2019, 36, 303 -307.

AMA Style

Anna Szeliga, Aleksandra Zysnarska, Agnieszka Podfigurna, Marzena Maciejewska-Jeske, Rafał Moszyński, Stefan Sajdak, Piotr Jasiński, Andrzej Frankowski, Andrea R. Genazzani, Błażej Męczekalski. Ovarian steroid cell tumor as an example of severe hyperandrogenism in 45-year-old woman. Gynecological Endocrinology. 2019; 36 (4):303-307.

Chicago/Turabian Style

Anna Szeliga; Aleksandra Zysnarska; Agnieszka Podfigurna; Marzena Maciejewska-Jeske; Rafał Moszyński; Stefan Sajdak; Piotr Jasiński; Andrzej Frankowski; Andrea R. Genazzani; Błażej Męczekalski. 2019. "Ovarian steroid cell tumor as an example of severe hyperandrogenism in 45-year-old woman." Gynecological Endocrinology 36, no. 4: 303-307.

Case reports
Published: 30 October 2019 in International Journal of Molecular Sciences
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We analyzed three cases of Complete Androgen Insensitivity Syndrome (CAIS) and report three hitherto undisclosed causes of the disease. RNA-Seq, Real-timePCR, Western immunoblotting, and immunohistochemistry were performed with the aim of characterizing the disease-causing variants. In case No.1, we have identified a novel androgen receptor (AR) mutation (c.840delT) within the first exon in the N-terminal transactivation domain. This thymine deletion resulted in a frameshift and thus introduced a premature stop codon at amino acid 282. In case No.2, we observed a nonsynonymous mutation in the ligand-binding domain (c.2491C>T). Case No.3 did not reveal AR mutation; however, we have found a heterozygous mutation in CYP11A1 gene, which has a role in steroid hormone biosynthesis. Comparative RNA-Seq analysis of CAIS and control revealed 4293 significantly deregulated genes. In patients with CAIS, we observed a significant increase in the expression levels of PLCXD3, TM4SF18, CFI, GPX8, and SFRP4, and a significant decrease in the expression of SPATA16, TSACC, TCP10L, and DPY19L2 genes (more than 10-fold, p < 0.05). Our findings will be helpful in molecular diagnostics of patients with CAIS, as well as the identified genes could be also potential biomarkers for the germ cells differentiation process.

ACS Style

Agnieszka Malcher; Piotr Jedrzejczak; Tomasz Stokowy; Soroosh Monem; Karolina Nowicka-Bauer; Agnieszka Zimna; Adam Czyzyk; Marzena Maciejewska-Jeske; Blazej Meczekalski; Katarzyna Bednarek-Rajewska; Aldona Wozniak; Natalia Rozwadowska; Maciej Kurpisz; Nowicka- Bauer; Maciejewska- Jeske; Bednarek- Rajewska. Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and their Molecular Characteristics. International Journal of Molecular Sciences 2019, 20, 5418 .

AMA Style

Agnieszka Malcher, Piotr Jedrzejczak, Tomasz Stokowy, Soroosh Monem, Karolina Nowicka-Bauer, Agnieszka Zimna, Adam Czyzyk, Marzena Maciejewska-Jeske, Blazej Meczekalski, Katarzyna Bednarek-Rajewska, Aldona Wozniak, Natalia Rozwadowska, Maciej Kurpisz, Nowicka- Bauer, Maciejewska- Jeske, Bednarek- Rajewska. Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and their Molecular Characteristics. International Journal of Molecular Sciences. 2019; 20 (21):5418.

Chicago/Turabian Style

Agnieszka Malcher; Piotr Jedrzejczak; Tomasz Stokowy; Soroosh Monem; Karolina Nowicka-Bauer; Agnieszka Zimna; Adam Czyzyk; Marzena Maciejewska-Jeske; Blazej Meczekalski; Katarzyna Bednarek-Rajewska; Aldona Wozniak; Natalia Rozwadowska; Maciej Kurpisz; Nowicka- Bauer; Maciejewska- Jeske; Bednarek- Rajewska. 2019. "Novel Mutations Segregating with Complete Androgen Insensitivity Syndrome and their Molecular Characteristics." International Journal of Molecular Sciences 20, no. 21: 5418.

Original article
Published: 25 October 2019 in Journal of Endocrinological Investigation
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Introduction Polycystic ovary syndrome (PCOS) is a common endocrine disorder affecting 5–10% of women of reproductive age. It is characterized by chronic anovulation leading to menstrual disorders, and increased infertility. The syndrome can also manifest as hirsutism and acne. Aim of the study The aim of the study was to compare, over a duration of 6 months, the effects of drospirenone (DRSP) versus chlormadinone acetate (CMA) containing oral contraceptives (OCs) on clinical, hormonal, and metabolic parameters in 120 PCOS women. Materials and methods 120 women with the diagnosis of PCOS according to the Rotterdam 2003 criteria were recruited to the study. All patients were divided to two treatment groups of OCs, containing: 3 mg DRSP/30 mcg EE (ethinylestradiol) (60 patients) and 2 mg CMA/30 mcg EE (60 patients). Clinical parameters such as hirsutismus and acne were evaluated. Metabolic parameters such as serum insulin, glucose concentration, homeostatic model assessment of insulin resistance, body mass index, systolic and diastolic blood pressures were also measured. Among hormonal parameters, serum estradiol, luteinizing hormone, follicle-stimulating hormone, prolactin, testosterone, dehydroepiandrosterone sulfate, thyroid-stimulating hormone, and free thyroxine were measured. Results The use of both DRSP- or CMA-containing OCs provided similar positive therapeutic effects with regard to clinical, metabolic, and hormonal parameters. Among clinical parameters, like hirsutismus, after 6 months of continuous OC treatment, a statistically significant improvement was observed in both groups: DRSP (p < 0.0001) and CMA OC treatment (p < 0.0001). In addition, significant improvement was showed according to acne lesions both after DRSP (p < 0.0001) and CMA treatments (p < 0.0001). Among glucose, insulin levels and HOMA-IR, there were statistically significant higher levels in both groups after DRSP (p < 0.0001, p < 0.0001, p < 0.05) and CMA OC treatment (p < 0.02, p < 0.0001, p < 0.0001). Hormonal parameters such as LH, FSH, prolactin, testosterone and DHEA-S were statistically significant lower in both groups after DRSP (p < 0.0001, p < 0.0001, p < 0.01, p < 0,002, and p < 0.0001) and CMA OC treatment (p < 0.0001, p < 0.0001, p < 0.04, p < 0.002, and p < 0.0001). Conclusions Further research, however, is needed not only to define optimal duration, and to clarify the effects of treatment on long-term metabolic outcomes, but also to explore different treatment options and possible combined therapies.

ACS Style

A. Podfigurna; B. Meczekalski; F. Petraglia; S. Luisi. Clinical, hormonal and metabolic parameters in women with PCOS with different combined oral contraceptives (containing chlormadinone acetate versus drospirenone). Journal of Endocrinological Investigation 2019, 43, 483 -492.

AMA Style

A. Podfigurna, B. Meczekalski, F. Petraglia, S. Luisi. Clinical, hormonal and metabolic parameters in women with PCOS with different combined oral contraceptives (containing chlormadinone acetate versus drospirenone). Journal of Endocrinological Investigation. 2019; 43 (4):483-492.

Chicago/Turabian Style

A. Podfigurna; B. Meczekalski; F. Petraglia; S. Luisi. 2019. "Clinical, hormonal and metabolic parameters in women with PCOS with different combined oral contraceptives (containing chlormadinone acetate versus drospirenone)." Journal of Endocrinological Investigation 43, no. 4: 483-492.

Review
Published: 22 May 2019 in Gynecological Endocrinology
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Background: Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder leading to chromosomal instability and an array of symptoms, including characteristic facial features (bird-like face), predisposition to malignancies, as well as hypergonadotropic hypogonadism. This case report discusses the diagnostic process and management of a 23-year-old Polish female patient who was admitted to hospital with symptoms of secondary amenorrhea and clinical features corresponding to NBS. Methods: Clinical examination, per-rectal ultrasound, laboratory diagnostics (including serum concentrations of FSH, LH, estradiol, testosterone, and TSH), as well as SSCP analysis and classic karyotyping were performed. Results: During hormonal evaluation elevated serum concentration of FSH and LH and decreased serum concentration of estradiol were measured. The genetic testing revealed translocation 7;14 (t(7;14)) and inversion 7 in 22% of examined cells which confirmed the initial hypothesis of NBS. The diagnosis was finally verified by identifying a Slavic founder mutation, c.657_661del5, on both allels of the NBN gene. Furthermore, hormonal serum evaluation conducted after four weeks allowed the patient to be diagnosed with premature ovarian insufficiency (POI) suspected earlier on the grounds of preliminary examinations (ultrasound imaging and laboratory tests). Conclusions: Chromosomal instability resulting from a mutation present in Nijmegen breakage syndrome patients might be a causative factor of premature ovarian insufficiency. Therefore, females diagnosed with NBS should undergo additional diagnostic procedures in order to determine further management and treatment.

ACS Style

Anna Szeliga; Aleksandra Zysnarska; Zuzanna Szklarska; Ewelina Truszkowska; Agnieszka Podfigurna; Adam Czyzyk; Andrea R. Genazzani; Krystyna Chrzanowska; Blazej Meczekalski. A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management. Gynecological Endocrinology 2019, 35, 999 -1002.

AMA Style

Anna Szeliga, Aleksandra Zysnarska, Zuzanna Szklarska, Ewelina Truszkowska, Agnieszka Podfigurna, Adam Czyzyk, Andrea R. Genazzani, Krystyna Chrzanowska, Blazej Meczekalski. A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management. Gynecological Endocrinology. 2019; 35 (11):999-1002.

Chicago/Turabian Style

Anna Szeliga; Aleksandra Zysnarska; Zuzanna Szklarska; Ewelina Truszkowska; Agnieszka Podfigurna; Adam Czyzyk; Andrea R. Genazzani; Krystyna Chrzanowska; Blazej Meczekalski. 2019. "A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management." Gynecological Endocrinology 35, no. 11: 999-1002.