Delineating the role of single-nucleotide polymorphism of CYP19 gene on aromatase activity in South Indian women with polycystic ovary syndrome.

BACKGROUND: Polycystic ovary syndrome is a common multifactorial endocrinopathy disorder affecting 5-15% of reproductive women worldwide. The CYP19 gene encodes key enzyme aromatase involved in androgen-to-estrogen conversion which plays a crucial role in the pathophysiology of the syndrome. Very few studies have been done in the Indian population; hence, we investigated whether CYP19 gene rs2414096 SNP is associated with PCOS and hyperandrogenism susceptibility in Karnataka women. METHODS: Three-hundred subjects including 150 PCOS and 150 age-matched controls were involved in the current case-control study. Sex hormones and biochemical estimation were performed by ELISA. Sanger sequencing and PCR-RFLP were used to genotype the SNP rs2414096. Genotypic-phenotypic association was studied. Statistical analysis was performed. RESULTS: The GG genotype was more common in patients, while the GA genotype was more common in control women. LH/FSH was significantly increased in GG genotype in PCOS when compared with AA and GA genotypes. Variations of CYP19 rs2414096 were not statistically significant with PCOS. CONCLUSION: CYP19 rs2414096 polymorphism was not associated with PCOS; however, the homozygous wild GG genotype may exhibit reduced aromatase activity with subsequent hyperandrogenism implicating endocrine abnormalities.

Xanthogranulomatous endometritis with unilateral salpingo-oophoritis in a postmenopausal woman masquerading as a malignancy.

Xanthogranulomatous endometritis (XGE) is a rare pathological entity which is characterised by sheets of foamy histiocytes and lymphoplasmacytic infiltrates. This condition can mimic endometrial carcinoma. We report a case, clinically suspected as carcinoma of the endometrium/ovary, which was diagnosed as XGE with left salpingo-oophoritis on histopathology.

Prenatal Diagnosis of Umbilical Artery Aneurysm with Good Fetal Outcome and Review of Literature.

Umbilical artery aneurysm is a rare condition. Till date, 14 cases are reported and only 4 had good fetal outcome. Umbilical artery aneurysm is associated with high risk of fetal aneuploidy and fetal demise. Though umbilical cord anomalies are rare, they are associated with significant fetal morbidity and mortality. We report a case of umbilical artery aneurysm which was detected at 33 weeks of gestation on ultrasonography as an anechoic cyst close to cord insertion with turbulent blood flow in it. The patient was hospitalized and with intensive fetal surveillance and early delivery, a live born fetus was achieved. Baby's karyotype was normal. Pathologic examination confirmed umbilical artery aneurysm close to cord insertion.

Delayed menopause due to ovarian granulosa cell tumour.

A patient presented to us with complaints of inability to attain menopause even at the age of 64. She has been having irregular cycles of bleeding for 5 days every 2-3 months from the age of 54. On evaluation, she was found to have endometrial hyperplasia and ultrasonography showed a homogenous solid ovarian mass of size of the 4 cm x 3.5 cm. She underwent staging laparotomy with total abdominal hysterectomy bilateral salpingo-oophorectomy and infra colic omentectomy. Histopathology confirmed granulosa cell tumour of the ovary. Most commonly granulosa cell tumour presented with post-menopausal bleeding and abnormal uterine bleeding, however, women with delayed menopause also have to be evaluated thoroughly for estrogen secreting ovarian tumours. There should be an element of suspicion if patient doesn't attain menopause as specified and they need to be evaluated in detail.

Bilateral primary fallopian tube carcinoma with the classical clinical features: a case report.

Bilateral primary fallopian tube carcinoma is a rare diagnosis in our gynaecological practice. Very often, the diagnosis is mistaken for an ovarian carcinoma or a tubo-ovarian mass. A correct, preoperative diagnosis is made only in 4% of the cases. This is due to the nonspecific symptoms. The Latzko's triad of a watery vaginal discharge, a colicky lower abdominal pain and a pelvic mass is typical of a fallopian tube carcinoma, but this triad is noted only in less than 15% of the patients. Here, we are reporting such a case where the patient presented with all the classical features of a primary fallopian tube carcinoma. This case is also being reported for it's extreme rarity.