Case report: Uterine leiomyoma with fumarate hydratase deficiency.

Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant disease caused by mutations in the fumarate hydratase gene. The syndrome is characterized by skin leiomyomatosis, uterine leiomyomatosis, and renal cell carcinoma. Herein, we report a case of fumarate hydratase deficient leiomyoma. The patient was a young female presenting with large uterine leiomyoma and multiple kidney angiomyolipomas. The report presents the chosen treatment and the challenges of differential diagnosis.

Synchronous endometrial and ovarian cancer: A case report.

BACKGROUND: Synchronous endometrial and ovarian cancer (SEOC) is a rare genital tract tumor. Precise diagnosis is crucial for the disease management since prognosis and overall survival differ substantially between metastatic endometrial cancer (EC) or OC. In this review we present 2 cases of women who were diagnosed with SEOC, and discuss the clinical characteristic of SEOC, diagnostic and molecular profiling issues. Next generation sequencing of 10 gene panel was performed on cancerous tissue and uterine lavage samples. CASE SUMMARY: In our report patients with SEOC had endometroid type histology with early stage and low-grade histology for both EC and OC. They underwent surgical treatment and staging. Next-generation sequencing of 10 gene-panel identified CTNNB1, PIK3CA, and PTEN gene mutations in ovarian tissue in one case, while none of these genes were mutated in other case. Literature review in support to our data suggest a good prognosis for SEOC diagnosed at early stage. CONCLUSION: Accurate diagnosis of SEOC is essential for disease management and gene mutation analysis can be helpful as a complementary diagnostic and prognostic tool.

Ovarian Leydig Cell Tumor and Ovarian Hyperthecosis in a Postmenopausal Woman: A Case Report and Literature Review.

Ovarian Leydig cell tumor is a rare type of ovarian steroid cell neoplasms, presenting in only 0.1% of all ovarian tumor cases, and is generally androgen-secreting and unilateral. Although they are often malignant non-spreading tumors, which have excellent prognosis, benign ovarian Leydig cell tumors with low-risk malignancy can be also detected. Ovarian hyperthecosis is a rare non-neoplastic disorder, in most cases bilateral. Ovarian tumors and ovarian hyperthecosis are one of the main causes of hyperandrogenism in postmenopausal women, a condition strongly associated with both hormonal and metabolic changes. Here, we report a 65-year-old patient with complaints of excessive body hairiness and alopecia. The laboratory investigation showed increased levels of serum testosterone and dehydroepiandrosterone sulfate (DHEA-S). Imaging, including transvaginal ultrasound and pelvic MRI revealed the presence of two masses in the ovaries. The patient underwent a laparoscopic bilateral salpingo-oophorectomy due to the ovarian tumors unknown etiology, and histopathological examination revealed a unilateral benign left ovarian Leydig cell tumor with bilateral ovarian stromal hyperplasia and ovarian hyperthecosis. Making differential diagnosis between ovarian tumors and ovarian hyperthecosis is difficult. Bilateral salpingo-oophorectomy is the treatment of choice in postmenopausal women with benign Leydig cell ovarian tumor, as well as ovarian hyperthecosis, as it offers both a cure and diagnostic confirmation.

Challenges in the Diagnosis of XY Differences of Sexual Development.

Background: We report the clinical case of female patient with 46,XY difference of sexual development (DSD) and discuss the challenges in the differential diagnosis between complete gonadal dysgenesis (also called Swyer syndrome) and complete androgen insensitivity syndrome. Case Presentation: The patient's with primary amenorrhea gynaecological examination and magnetic resonance imaging (MRI) revealed the absence of the uterus and a very short vagina. Two sclerotic structures, similar to ovaries, were recognised bilaterally in the iliac regions. Hormonal assay tests revealed hypergonadotropic hypogonadism and the testosterone level was above normal. The karyotype was 46,XY and a diagnosis of Swyer syndrome was made. At the age of 41, the patient underwent a gynaecological review and after evaluating her tests and medical history, the previous diagnosis was questioned. Therefore, a molecular analysis of sex-determining region Y (SRY) and androgen receptor (AR) genes was made and the results instead led to a definite diagnosis of complete androgen insensitivity syndrome. Conclusions: The presented case illustrates that differentiating between complete gonadal dysgenesis and complete androgen insensitivity can be challenging. A well-established diagnosis is crucial because the risk of malignancy is different in those two syndromes, as well as the timing and importance of gonadectomy.

Ovarian Sertoli Cell Tumor with Immature Prepubertal-like Sertoli Cell Component: A Case Report and Literature Review.

The Sertoli cell tumor of the ovary is a rare ovarian tumor with non-specific symptoms. According to the literature, endocrine manifestations occur in two-thirds of patients, but testosterone production is extremely rare. Typically, it is a unilateral benign tumor of the ovary that most commonly presents in adolescents and young women of childbearing potential. We report a 29-year-old patient, previously diagnosed to have polycystic ovarian syndrome, who presented with complaints of amenorrhea for the past three years. A transvaginal ultrasound scan revealed polycystic structure ovaries and a solid cystic formation of 32 × 31 mm size with strong blood flow in the left ovary. The laboratory tests reported an elevated testosterone level. During laparoscopic surgery, a solid, yellowish tumor was removed and the left ovary was resected. Histological examination revealed a left ovary Sertoli cell tumor with an immature prepubertal-like Sertoli cell component. Following surgery, the serum testosterone levels returned to normal and the menstrual cycle became regular. Due to the substantially low incidence of ovarian Sertoli cell tumors, information on their clinical behavior, morphologic spectrum, optimal management, and prognosis is limited. They are characterized by a wide variety of clinical manifestations, treated surgically, and, if diagnosed at an early stage, have good prognosis. We emphasize the extraordinarily rare clinical presentation of this case report.