Germ Cell Tumors in 46, XY Gonadal Dysgenesis.

Introduction: To present the clinical data, investigative profile, management, and follow-up of patients with 46, XY gonadal dysgenesis with germ cell tumors from the endocrine unit of a tertiary care university hospital. Materials and Methods: This retrospective study included 3 cases of 46, XY gonadal dysgenesis with germ cell tumors evaluated and managed at the Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, over a period of 13 years from (September 2008 to December 2021). Results: Over a period of 13 years, we diagnosed and managed 7 patients with 46, XY gonadal dysgenesis. This included 4 patients with pure gonadal dysgenesis (PGD; Swyer syndrome), 2 patients with mixed gonadal dysgenesis (MGD), and one patient with partial gonadal dysgenesis. Out of these 7 patients, three patients developed germ cell tumors, one patient with MGD, and two patients with pure PGD (Swyer syndrome). In all three patients, germ cell tumor was the first presentation of DSD. The patient with MGD presented with primary amenorrhea and virilization, while the two patients with PGD presented as phenotypic females with primary amenorrhea and pelvic mass. All three patients developed seminomatous cancers. Patient with MGD developed seminoma and the two patients with PGD (Swyer syndrome) developed dysgerminoma. The patients were managed with bilateral gonadectomy with removal of the tumor. In addition, the 2 patients with PGD (Swyer syndrome) received combined chemotherapy. On a follow up ranging from 1 to 10 years, all three patients are disease free. Conclusions: we conclude that germ cell tumors may be the first presentation of 46, XY gonadal dysgenesis. In all phenotypic females with primary amenorrhea and dysgerminoma, karyotype is a must to uncover the diagnosis of PGD. In addition virilization may be clue to the presence of germ cell tumor in a patient with 46, XY gonadal dysgenesis.

Vitamin D Toxicity: A Prospective Study from a Tertiary Care Centre in Kashmir Valley.

BACKGROUND: Vitamin D toxicity (VDT), a "not uncommon" cause of hypercalcemia, can be life-threatening and cause substantial morbidity, if not treated promptly. AIMS: To describe presentation, management, and outcome in 32 patients with VDT diagnosed over 3 years. MATERIALS AND METHODS: Patients presenting with VDT at a tertiary care centre in Srinagar Kashmir India were included. Evaluation included detailed history and biochemical tests including serum calcium, phosphate, creatinine, intact parathyroid hormone (iPTH), 25-hydroxy Vitamin D (25-OHD), and 24-hour urinary calcium. RESULTS: The clinical manifestations of the 32 patients (median age 65; range 3-77 years) included gastrointestinal symptoms (constipation and vomiting), polyuria/polydipsia, altered sensorium, pancreatitis, acute kidney injury, and nephrocalcinosis. The median total serum calcium level was 13.95 (range 11.10-17.20) mg/dl and median 25-OHD level was 306 (range 105-2800) ng/ml. All patients had suppressed or low normal iPTH and hypercalciuria and 78% had azotemia. All patients had received multiple intramuscular injections of vitamin D3. The median cumulative dose was 4,200,000 (range, 1,800,000-30,000,000) IU. The median time to resolution of hypercalcemia was 7 months (range 4-18 months). CONCLUSION: We conclude that VDT is an increasingly common cause of symptomatic hypercalcemia. VDT needs prolonged follow up as it takes months to abate its toxicity. Enhancing awareness among general practitioners regarding the toxicity resulting from high doses of vitamin D is the key to prevent VDT. We suggest that VDT be considered in patients, especially the elderly, presenting with polyuria, polydispsia, vomiting, azotemia, or encephalopathy.

Prevalence of ultrasonography proved polycystic ovaries in North Indian women with type 2 diabetes mellitus.

BACKGROUND: Polycystic ovaries (PCO) and their clinical expression (the polycystic ovary syndrome [PCOS]) as well as type 2 diabetes mellitus (T2DM) are common medical conditions linked through insulin resistance. We studied the prevalence of PCO and PCOS in women with diet and/or oral hypoglycemic treated T2DM and non-diabetic control women. DESIGN: Prospective study. METHODS: One hundred and five reproductive age group women with diet and /or oral hypoglycemic treated T2DM were the subjects of the study. Sixty age-matched non-diabetic women served as controls. Transabdominal ultrasonographic assessment of the ovaries was used to diagnose PCO. Clinical, biochemical and hormonal parameters were also noted. RESULTS: Ultrasonographic prevalence of PCO was higher in women with diabetes than in non-diabetic subjects (61.0% vs. 36.7%, P < 0.003) whereas that of PCOS was 37.1% in diabetic subjects and 25% in non-diabetic controls (P > 0.1). Diabetic women with PCO had diabetes of significantly longer duration than those without PCO (4.19+/-2.0 versus 2.9+/-1.6 yrs; p < 0.05). Among both diabetic and non-diabetic women, those with PCO had significantly higher plasma LH, LH/FSH ratio, total testosterone and androstenedione levels. CONCLUSION: This study demonstrates a higher prevalence of PCO in women with T2DM as compared to non-diabetic subjects.

Clinical and endocrine aspects of pituitary tumors.

OBJECTIVE: To study the clinical spectrum and endocrine profile of pituitary tumors presenting to a tertiary care endocrine center. METHODS: Retrospective analysis of clinical and hormonal data of patients with pituitary tumors admitted in the Endocrinology Department of Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir India between January 1989 and December 1998. RESULTS: Over a period of one decade, 75 subjects were diagnosed to have pituitary tumors. Somatotroph adenoma was the most common pituitary mass lesion seen (44/75) and followed in the decreasing order of frequency, by non-functioning pituitary tumor (12/75), prolactinoma (11/75) and corticotroph adenoma (8/75). Overall there was a male preponderance (male to female ratio was 41:34). Subjects with somatotroph adenoma presented with classical features of acromegaly: mean fasting and post glucose suppression growth hormone levels were 34.04+/-11.67 and 36.47+/-6.64 ng/ml. Eleven subjects (9 females and 2 males) had prolactinoma; females presented with the classical symptom complex of amenorrhea-galactorrhea while males presented with headache, visual disturbances and impotence. The 12 subjects with nonfunctioning pituitary tumors presented with features of mass lesion. Of the 8 subjects (6 females and 2 males) with corticotroph adenomas, 2 were confirmed to have periodic hormonogenesis. CONCLUSION: In an endocrine center, functioning pituitary tumors are more often seen than non-functioning tumors.

Copper, zinc and magnesium levels in type-1 diabetes mellitus.

OBJECTIVE: Alterations in plasma concentrations of several trace elements have been reported to occur in type-1 diabetes mellitus. These micronutrients are suspected to have a role in pathogenesis and progression of the disease. METHODS: In a comparative analysis, the plasma concentration of copper, zinc and magnesium was estimated in 37 patients with type-1 diabetes mellitus and 25 healthy non-diabetic subjects at Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, India. Trace elements were estimated using a GBC 902 double beam atomic absorption spectrophotometer. RESULTS: Mean plasma concentrations of copper and magnesium were comparable between diabetic patients and control subjects. Plasma zinc levels were significantly higher (P=0.022) in diabetic patients (17.78 0.6 micromol/L) as compared to controls (15.80 0.75 micromol/L). Glycemic control and presence of microalbuminuria did not influence the plasma levels of copper, zinc and magnesium. CONCLUSION: Plasma zinc levels are significantly higher in type-1 diabetes mellitus patients, while plasma copper and magnesium levels are not significantly altered. No effect of sex, glycemic control or presence of microalbuminuria could be demonstrated on plasma concentration of trace elements in type-1 diabetes mellitus patients.