Late onset adrenal hyperplasia due to 3 beta-hydroxy-delta 5-steroid dehydrogenase deficiency in north Indian hirsute women.

The presence of late onset 3 beta-hydroxy steroid dehydrogenase (3 beta-HSD) type of congenital adrenal hyperplasia was studied in 58 north Indian hirsute women. The age range of these patients was 15 to 42 yr. Fifty two per cent of these patients had body mass index > 25. Basal serum testosterone, luteinizing hormone, follicle stimulating hormone, dehydroepiandrosterone sulphate (DHEAS), and 17 hydroxy progesterone (17 OHP) were estimated. All the patients underwent adrenocorticotropin (ACTH) stimulation test after an overnight dexamethasone suppression for the estimation of DHEAS, 17 OHP, and 17 hydroxy pregnenolone (delta 5-17p). Five (8.6%) hirsute women showed an exaggerated 17 OHP response to ACTH indicating 21-hydroxylase deficiency. Eight (13.8%) hirsute women had elevated basal DHEAS and ACTH-stimulated DHEAS as well as delta 5-17P responses indicative of 3 beta-HSD deficiency. In one patient hirsutism was the presenting manifestation of tumoural hyperandrogenism. Our findings indicate the presence of both 21-hydroxylase and 3 beta-HSD deficiency in north Indian hirsute women, with, 3 beta-HSD deficiency being the major cause of hirsutism in this population.

Fine needle aspiration cytology, sonography and radionuclide scanning in solitary thyroid nodule.

One hundred and ninety three consecutive patients with solitary thyroid nodule (STN), with a mean age of 36.0 +/- 12.8 years and male to female ratio of 5.6:1, were studied. Ninety five percent of patients came from iodine deficient regions. Seventy two percent presented for local neck swelling, 12.4% for hyperthyroid state and in 7.7% STN was discovered incidentally. Scintigraphically, 77.7% of nodules were cold, 12.4% hot and 8.5% warm. Sonographic evaluation did not reveal any characteristic echotexture diagnostic of malignancy, but detected clinically nonpalpable accessory nodules in 20.6% of patients. Fine needle aspiration cytology was positive for malignancy in 6.2% of patients. Features of follicular and Hurthle cell neoplasm were seen in 12.9% of aspirates. Eighty eight (45.6%) STN were resected surgically. Histologically, there was one false positive and one false negative aspirate and a case of parathyroid adenoma on aspiration proved to be parathyroid carcinoma on histology.

Congenital adrenal hyperplasia among peripubertal girls with hyperandrogenism.

Fifteen girls with severe hyperandrogenism were investigated by us during the last 6 years. Thirteen of these were cases of untreated congenital adrenal hyperplasia (CAH) and 2 were cases of tumoral (one sertoli leydig cell tumor of the ovary and one adrenal adenoma) hyperandrogenism. Here we present the clinical profile and laboratory data of those with congenital adrenal hyperplasia. All the girls had masculinization of genitalia (clitoromegaly alone 5, clitoromegaly with varying degree of posterior labial fusion 8). Eleven cases had hirsutism and 9 had short stature. Two patients underwent unilateral adrenelectomy with diagnosis of adrenal adenoma. Hormonal profile confirmed the diagnosis of CAH with 21 hydroxylase deficiency (elevated 17 OHP levels with exaggerated 17 OHP response to ACTH) in 12 cases and 3 beta hydroxy steroid dehydrogenase deficiency (elevated DHEAS and 17 pregnenelone levels and exaggerated DHEAS and 17 pregnenelone response to ACTH) in one case.

Clinical utility of ketoconazole in cases of adrenocortical carcinoma.

Ketoconazole, an imidazole derivative is known to decrease adrenal steroid biosynthesis by inhibiting cytochrome P450 dependent adrenal enzymes. Three patients of adrenal carcinoma treated with ketoconazole, 600-1200 mg daily showed significant fall in plasma and urinary cortisol levels, but no reduction in tumor size, one patient developed liver dysfunction which reverted back to normal on discontinuing the drug.

Postural variation of exophthalmometry in Graves' ophthalmopathy.

30 patients with Graves' ophthalmopathy were subjected to exophthalmometry in the upright and supine positions to determine if the difference in exophthalmometer readings in these two situations are significantly different and would help in distinguishing the early and late Graves' ophthalmopathy patients. The cases were divided into two groups (of 15 patients each) of early Graves' ophthalmopathy (Grades 0,1,2) and late Graves' ophthalmopathy (Grades 3,4,5) according to the American Thyroid Association classification. In addition, 15 age and sex matched normal individuals who served as controls, also underwent similar investigation. Contrary to earlier observations, the results showed statistically insignificant increase in exophthalmometer readings when going from the erect to the supine position. It was concluded that postural change in exophthalmometer readings neither helps in distinguishing normal subjects from patients of Graves' ophthalmopathy nor can it differentiate between various grades of Graves ophthalmopathy.

Spontaneous hypoparathyroidism: clinical, biochemical and radiological features.

The clinical, biochemical and radiological features of spontaneously occurring hypoparathyroidism in 13 patients (mean age 9 years, range 4 months to 20 years) are highlighted. Nine patients presented with a history of generalised seizures and 2 were in acute hypocalcemic crisis at the time of admission. Ocular involvement (corneal opacities, cataract) was present in 3 patients and vitiligo in 1 patient. The serum calcium level was low (mean 5.46 mg/dl, range 5.0-7.2) and serum phosphorus level was high (mean 8.49 mg/dl, range 6-14 mg/dl) in all the patients. Six patients had elevated serum alkaline phosphatase (greater than 20 KAU). Radiological examination revealed osteopenia in 3 patients. Nine patients underwent a head CT scan; 5 had evidence of basal ganglia calcification. The findings of elevated serum alkaline phosphatase and osteopenia are at variance with existing literature and may possibly reflect pre-existing vitamin D deficiency.

Effect of chronic opioid administration on glycosylated haemoglobin levels in heroin addicts.

Levels of stable form of HbA1 in blood were estimated in 20 male heroin addicts, so as to assess the effect of chronic opioid use on glucose metabolism. No significant difference in the levels of stable form of HbA1 was observed in the heroin addicts as compared to controls, indicating absence of any long-term impairment of glucose tolerance in heroin addicts.