(1) Background: The mechanism of platinum resistance in ovarian cancer is not fully clarified, but the properly functioning DNA repair mechanism can counteract the effect of conventional anticancer treatment. The objective of our study was to evaluate the expression of an important DNA repair enzyme, the Poly (ADP-Ribose) Polymerase (PARP) expression in epithelial ovarian cancer (EOC) tissues depending on BRCA status and to assess its relationship with platinum resistance. (2) Methods: Immunostaining to highlight PARP protein expression was performed using a rabbit polyclonal anti-PARP antibody. The intensity and distribution of immunostaining were assessed by light. Somatic BRCA1 or BRCA2 mutation carriers were identified with bidirectional sequencing of DNA from archived tumor tissue, if the test could not be performed due to technical reasons from tumor cells, the sequencing was done from peripheral blood cells to identify germline mutation carriers. The median progression-free survival (PFS) was generated for each semiquantitative group of PARP expression among chemotherapy-naive cases at the time of PARP immunohistochemistry. (3) Results: In the overall population, negative PARP immunohistochemistry predicted significant PFS (20.1 vs. 11.9 months, p = 0.001) and OS (49 vs. 114 months, p = 0.014) benefit. Genotype-stratified subgroup analysis in BRCA-negative cases confirmed the role of PARP positivity indicating an unfavorable prognosis in the entire population (relapsed 73.91% vs. 92%; OR: 4.06; p = 0.04). In the cases of the subgroup carrying the BRCA mutation, the presence of PARP expression was not associated with less favorable relapse rates, but with marginal significance for overall survival predicted a lower chance of survival (OS more than 32 months 72.73% vs. 35%; OR: 0.2; p = 0.05). (4) Conclusion: The BRCA wild type patients with strong expression of PARP enzymes before the first set of chemotherapy have a poor prognosis.

Background/Objective: Infertility affects an estimated 40–50% of women with polycystic ovary syndrome (PCOS), the leading cause of anovulatory infertility, but only a small proportion of the patients require in vitro fertilization (IVF) therapy. Both PCOS and IVF are associated with an increased risk of obstetric complications. To compare preconception endocrine profiles and symptoms, as well as obstetric outcomes of PCOS patients who achieved successful pregnancies with and without IVF treatment. Methods: A single-center retrospective cohort study was conducted. Data spanning from 2012 to 2019 were compiled from patients with PCOS who visited the Gynecologic Endocrinology Unit and the Infertility Unit at the Department of Obstetrics and Gynecology, University of Debrecen. Patients diagnosed with PCOS who had had at least one successful delivery beyond the 23rd gestational week at the department were eligible for inclusion in the study. Results: Fifteen percent of the 206 pregnancies leading to successful deliveries of 232 newborns in our cohort conceived with IVF. A one year increase in the maternal age increased the odds of being in the IVF group by 22% (OR: 1.222, 95% confidence interval, CI: 1.11–1.35, p < 0.001). Baseline DHEAS and androstenedione levels were significantly lower in the IVF group as compared to the non-IVF group: 1 μmol/L increase in the DHEAS level decreased the odds of being in the IVF group by 18% (OR: 0.82, 95% CI: 0.66–1.01, p = 0.06), and 1 μg/L increase in the serum androstenedione concentration decreased the same odds by 42% (OR: 0.58, 95% CI: 0.33–1.02, p = 0.056). DHEAS levels <6.5 μmol/L had an OR 3.86 (95% CI 1.10–13.50, p = 0.04) and LH/FSH ratio <1.3 had an OR 3.58 (95% CI 1.18–10.81, p = 0.03) for being in the IVF group. The birth weight (3069 ± 683 g vs. 3362 ± 638 g, p = 0.02) and the gestational age (37.23 ± 2.55 vs. 38.54 ± 2.28 weeks, p = 0.004) were significantly lower in the IVF group, but in the singleton subgroups, no significant differences could be found. Birth weight percentiles showed no significant difference in either subgroup. In the IVF group, both preterm delivery (29% vs. 8.3%, OR 4.53, 95% CI 1.75–11.70, p = 0.002; singleton subgroup: 17.4% vs. 6.3%, OR 3.12, 95% CI 0.89–10.92, p = 0.07) and cesarean section (71% vs. 43.2%, OR 3.22, 95% CI 1.40–7.40, p = 0.006; singleton subgroup: 65.2% vs. 42.4%, OR 2.55, 95% CI 1.02–6.35, p = 0.04) were more frequent than in the non-IVF group. Gestational diabetes and preeclampsia were not significantly different in the IVF and non-IVF groups. Conclusions: In PCOS patients with successful pregnancies, those who conceive with IVF seem to be different in their baseline hormone levels and symptoms from the non-IVF group. Adverse obstetric outcomes are more common in the IVF group, and some of these differences persist when adjusting for singleton pregnancies and maternal age, too.

Hyperandrogenism is a determining diagnostic factor for PCOS. If pregnancy is conceived, it is considered high-risk due to several potential complications, but the correlation between pre-pregnancy androgen levels and obstetric outcomes is poorly characterized. Objective: To determine if pre-pregnancy serum androgen concentrations and androgen indexes differed when certain obstetric and neonatal outcomes appeared in PCOS. Methods: A single-center, retrospective study was carried out. All patients were treated between 2012 and 2019. A total of 73 patients had all the endocrine and obstetric data available. Pre-pregnancy hormone levels (total testosterone-T, androstenedione-AD, DHEAS (dehydroepiandrosterone sulfate), SHBG (sex-hormone-binding globulin), and TSH (thyroid-stimulating hormone) were collected, and T/SHBG, AD/SHBG, DHEAS/SHBG, T/AD indexes were calculated and compared. Results: When miscarriage was present in the history, significantly elevated pre-pregnancy AD levels were observed. Higher pre-pregnancy AD level was noted in PCOS patients delivering female newborns as compared to males. Additionally, a higher T/AD ratio was associated with subsequent preterm delivery, but significance was lost after age adjustment. Maternal age at delivery had a significant negative correlation with pre-pregnancy DHEAS levels and DHEAS/SHBG ratio. Pre-pregnancy SHBG displayed a significant negative correlation, while pre-pregnancy androgen/SHBG ratios exhibited positive correlations with both birth weight and birth weight percentile. Conclusions: Based on our data, AD and the T/AD ratio emerge as distinctive factors in certain outcomes, implying a potential specific role of altered 17-β-HSD (17β-hydroxysteroid dehydrogenase) enzyme activity, possibly influencing offspring outcomes. The pre-pregnancy T/SHBG ratio exhibits a potentially stronger correlation with fetal growth potential compared to SHBG alone. DHEAS and maternal age at delivery are strongly correlated in PCOS patients.

Aim: Turner syndrome (TS) is one of the most common genetic diseases in females, with typical physical features and comorbidities. Karyotype-phenotype associations and clinical significance of childhood versus adolescent/adulthood diagnosis are conflicting. Purpose: Determining the role of certain TS karyotypes and early (< 12 years of age) vs late (≥ 12 years) diagnosis in TS-specific phenotype and comorbidity penetrance. Patients and Methods: Retrospective analysis of baseline characteristics and 45 TS-specific features and comorbidities of 75 TS patients were diagnosed between 2009 and 2019 and followed-up until 2023 in our tertiary care center. Results: Thirteen different karyotypes were detected: 45,X,inv(10), 45,X,inv(9)(15), 45,X, 46,X,i(Xq), 46,X,del(Xp), 46,XX,del(X)q21, 45,X/46,X,del(X), 45,X/46,X,+mar, 45,X/46,X,rX, 45,X/46,XX, 45,X/46,XY, 45,X/47,XXX, 46,X,i(Xq)/47,XX,i(Xq). The classic karyotype with 45X monosomy showed an increased risk for hypertrichosis (28.6% vs 7.5%, OR 4.93, 95% CI [1.23– 19.73]), pterygium colli (34% vs 12%, OR 3.65, 95% CI [1.13– 11.75]) and short stature (91% vs 75%, OR 3.56 [0.89– 14.17]. Mosaic karyotypes had a smaller risk of pterygium colli (OR 0.28 [0.073– 1.092]) and short stature (OR 0.29 [0.086– 1.026]. 45X/46XX mosaicism was associated with an increased risk of hypertension (33% vs 6%, OR 7.75 [1.39– 43.08]), and the presence of the iso (Xq) chromosome increased the risk of celiac disease (28% vs 3%, OR 13.2 [1.52– 114.52]). 44/75 (58.6%) of the cohort were diagnosed at < 12 years of age. In the < 12-year-old diagnosis group, facial dysmorphism and low hairline, (OR 3.30, [1.26– 8.65]), low-set ears (OR 2.51 [0.98– 6.46]), and breasts abnormalities (OR 4.71 [1.72– 12.83]), short stature (OR 4.09 [1.13– 14.82]) and GH therapy (OR 4.93 [1.31– 16.01]) occurred more frequently. If diagnosed < 12 years, patients had a decreased risk of hepatosplenomegaly (OR 0.10 [0.02– 0.50]) and hypertension (OR 0.097 [0.01– 0.85]). Conclusion: TS patients should be handled as a heterogenous group, as they seem to differ in the penetrance of phenotypical features of the disease and the risk of comorbidities depending on karyotype and age at diagnosis.

Background: While Apgar score is still the cornerstone of perinatal assessment, umbilical cord blood acid–base analysis provides objective information on fetal acid–base status at birth. Guidelines recommend cord blood gas evaluation in selected high-risk cases of low Apgar scores. However, newborns with severe and borderline acidemia may have temporarily reassuring Apgar scores despite biochemical evidence of metabolic stress. This study aimed to evaluate the clinical significance of severe and borderline umbilical acidemia, especially in the case of pH 7.19–7.10 values as a gray zone, and to assess whether lactate, base excess and metabolic burden score improve neonatal risk stratification. Methods: We performed a retrospective analysis of 1.989 newborns with available (routine) umbilical cord arterial blood gas parameters and 1 and 5 min Apgar scores. Severe and borderline acidemia were defined as arterial pH < 7.10 and 7.19–7.10, respectively. Arterial pH, lactate and base excess parameters were assessed, along with 1 and 5 min Apgar scores and early perinatal outcomes including the need for neonatal intensive care unit admission and CPAP requirement. Results: Close observation or NICU admission was associated with lower pH, higher lactate, and more negative base excess with a higher metabolic burden score. Among newborns with arterial pH < 7.20 (n = 299), ROC analysis showed lactate with the highest discriminative performance for close observation or NICU admission (AUC 0.783), followed by metabolic burden score (AUC 0.759). Both lactate and the metabolic burden score outperformed the pH risk alone. Although Apgar scores were statistically lower among admitted newborns, median 5 min Apgar values remained clinically reassuring. Conclusions: Severe and borderline umbilical arterial acidemia may identify neonates requiring closer observation. Integrating lactate, base excess, metabolic burden score and Apgar score dynamics may improve early risk stratification to discover perinatal hypoxia, with identification of newborns requiring close postnatal observation.

SUMMARY Turner syndrome is one of the most common aneuploidies. In vitro fertilization with oocyte donation is the usual method of assisted conception, but spontaneous pregnancy can also occur. Although pregnancies in Turner syndrome are widely accepted to be associated with small for gestational age foetuses, neither the causal role of placental insufficiency nor the contribution of maternal and foetal factors is well understood. Between 2009 and 2023, we followed 75 patients diagnosed with Turner syndrome at our university clinic, [...] SUMMARY Turner syndrome is one of the most common aneuploidies. In vitro fertilization with oocyte donation is the usual method of assisted conception, but spontaneous pregnancy can also occur. Although pregnancies in Turner syndrome are widely accepted to be associated with small for gestational age foetuses, neither the causal role of placental insufficiency nor the contribution of maternal and foetal factors is well understood. Between 2009 and 2023, we followed 75 patients diagnosed with Turner syndrome at our university clinic,