Ovarian cancer is a leading cause of death among women with gynecological cancers, and is often diagnosed at advanced stages, leading to poor outcomes. This review explores genetic aspects of high-grade serous, endometrioid, and clear-cell ovarian carcinomas, emphasizing personalized treatment approaches. Specific mutations such as TP53 in high-grade serous and BRAF/KRAS in low-grade serous carcinomas highlight the need for tailored therapies. Varying mutation prevalence across subtypes, including BRCA1/2, PTEN, PIK3CA, CTNNB1, and c-myc amplification, offers potential therapeutic targets. This review underscores TP53’s pivotal role and advocates p53 immunohistochemical staining for mutational analysis. BRCA1/2 mutations’ significance as genetic risk factors and their relevance in PARP inhibitor therapy are discussed, emphasizing the importance of genetic testing. This review also addresses the paradoxical better prognosis linked to KRAS and BRAF mutations in ovarian cancer. ARID1A, PIK3CA, and PTEN alterations in platinum resistance contribute to the genetic landscape. Therapeutic strategies, like restoring WT p53 function and exploring PI3K/AKT/mTOR inhibitors, are considered. The evolving understanding of genetic factors in ovarian carcinomas supports tailored therapeutic approaches based on individual tumor genetic profiles. Ongoing research shows promise for advancing personalized treatments and refining genetic testing in neoplastic diseases, including ovarian cancer. Clinical genetic screening tests can identify women at increased risk, guiding predictive cancer risk-reducing surgery.
Polycystic ovary syndrome (PCOS) is a complex endocrine disorder that affects women of reproductive age and is characterized by hyperandrogenism, ovulatory dysfunction and polycystic ovarian morphology. PCOS is often associated with hormonal imbalances, metabolic dysfunction and comorbid psychiatric disorders, including eating disorders (EDs). The review identifies key hormonal factors—serotonin, leptin, insulin, ghrelin, kisspeptin and cortisol—and their roles in the pathophysiology of PCOS and associated psychiatric symptoms. Serotonin deficiency, commonly seen in PCOS patients, is associated with mood and eating disorders. Fluctuations in leptin, the satiety hormone, affect hypothalamic–pituitary–ovarian axis function and ovarian follicle maturation, increasing the risk of infertility. Elevated levels of kisspeptin in PCOS patients contribute not only to hormonal dysregulation but also to increased susceptibility to eating disorders such as bulimia and binge eating, likely due to its influence on the limbic system and glucose metabolism. Hyperinsulinemia and insulin resistance further impair reproductive and metabolic health, while promoting eating disorders such as binge eating and bulimia. Ghrelin and cortisol also emerge as significant factors. The review emphasizes the bidirectional relationship between PCOS and eating disorders, in which hormonal imbalances perpetuate psychiatric conditions, creating a vicious cycle. A multidisciplinary approach including gynecologists, endocrinologists, psychiatrists and nutritionists is recommended to ensure complex treatment. Early identification of those at risk through targeted screening and personalized interventions is key. Future research should focus on discovering the underlying hormonal mechanisms to improve treatment strategies and quality of life for women with PCOS.
Background and Clinical Significance: Herlyn–Werner–Wunderlich (HWW) syndrome, also known as OHVIRA syndrome (Obstructed HemiVagina and Ipsilateral Renal Anomaly), is a rare congenital anomaly of the female urogenital system characterized by uterine duplication, unilateral vaginal obstruction, and renal agenesis on the same side. The condition often remains undiagnosed until adolescence, when it presents with palpable pelvic mass, dysmenorrhea, and chronic pelvic pain. Case report: We present the case of a 13-year-old female patient diagnosed with OHVIRA syndrome following imaging studies. Surgical treatment involved incision of the vaginal septum and evacuation of accumulated blood, leading to symptom resolution and restoration of reproductive tract patency. Conclusions: This article discusses the clinical characteristics, diagnostic challenges, and the importance of early surgical intervention, emphasizing the necessity of considering this syndrome in the differential diagnosis of adolescent females with cyclic abdominal pain and renal anomalies. Early diagnosis and treatment can prevent severe health complications and improve both patients’ quality of life and fertility.