Biomedical subjects
Publications and source records attributed to A C Ammini.
An 18-year-old girl presented with primary amenorrhea and absence of secondary sexual characteristics. She had gonadal dysgenesis, clitoromegaly, absence of the vagina and a 46,XY chromosome pattern.
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.
Six children with untreated congenital adrenal hyperplasia (CAH) were examined by computed tomography (CT). Three cases demonstrated diffuse enlargement of both adrenal glands with preservation of normal configuration and two showed tumorous transformation in one of the enlarged glands. One had equivocal enlargement of the adrenal gland. Even the youngest in this group (age 2 years) also showed bilateral hyperplasia.
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.
The incidence of trisomy X in the newborn population is estimated to be 1 in 1,000 liveborn females. Most of them have normal physical appearance and puberty. Therefore, the reported number of triple X females in the literature is low. We herein report one patient with triple X chromosomes, primary amenorrhoea and normal intelligence. Steroid hormonal levels, clinical and ultrasound findings were suggestive of ovarian failure/gonadal dysgenesis. This case emphasizes the need for chromosomal analysis in women presenting with premature ovarian failure leading to primary or secondary amenorrhoea.
Reproductive endocrine functions were studied in men with primary hypothyroidism during the hypothyroid phase and after achieving euthyroid status with thyroxine substitution therapy. Hypergonadotropism [luteinising hormone (LH), 18.7 +/- 7.3 IU/l; follicle-stimulating hormone (FSH), 6.3 +/- 2.0 IU/l], low serum testosterone (6.1 +/- 2.8 nmol/l), low serum sex-hormone-binding globulin (SHBG; 13.2 +/- 2.0 nmol/l) and subnormal testosterone response to human chorionic gonadotropin hCG; (30% increase in serum testosterone following hCG) observed during the hypothyroid phase were restored to normal (LH, 7.2 +/- 2.0 IU/l; FSH, 2.7 +/- 0.9 IU/l; testosterone, 12.9 +/- 2.7 nmol/l; SHBG, 26.5 +/- 8.4 nmol/l, and 2-fold increase in serum testosterone following hCG) with thyroxine substitution therapy. Some improvement in sperm count and motility was also observed.
The occurrence of late-onset congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency was studied in 60 consecutive hirsute women by means of adrenocorticotrophin (ACTH)-stimulated serum 17-hydroxyprogesterone (17-OHP) levels. Five (8.3%) women had an exaggerated response (ACTH-stimulated 17-OHP 3,160 +/- 560 ng/dl). All of them had regular periods and 3 were virilized. The other 2 were indistinguishable from those with idiopathic hirsutism or polycystic ovarian disease.
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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.
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Familial male pseudohermaphroditism (MPH) due to 17,20-desmolase deficiency is rare. Here we present two siblings with MPH possibly due to 17,20-desmolase deficiency. The first patient presented with unambiguous female external genitalia and hypergonadotrophic hypogonadism. Chromosomal analysis revealed 46 XY. Ultrasound evaluation of pelvis revealed gonads in the inguinal canal, and no uterus. These findings were confirmed on laparotomy. Histology revealed the gonads to be testes. The second patient had ambiguous genitalia (perineoscrotal hypospadias, bifid scrotum with palpable gonads) with a 46 XY chromosomal pattern. Both patients had high plasma 17-hydroxy progestrone (17 OHP), low normal dehydro epiandrosterone sulphate (DHEAS) and low plasma testosterone. Plasma testosterone and DHEAS showed no response to ACTH or HCG. These features are compatible with the diagnosis of 17,20-desmolase deficiency.
Serum PRL, TSH, T3 and T4 were estimated in the basal state and following iv bolus injection of 100 micrograms synthetic thyrotropin releasing hormone before and 7 days after cyproheptadine treatment in 5 healthy adult males. Only the PRL response to TRH was augmented after cyproheptadine. This is perhaps related to the antidopaminergic effect of cyproheptadine.
BACKGROUND: Insulinomas are rare tumors that are usually benign, single and curable by simple surgical excision. They can present problems in diagnosis and localization. STUDY DESIGN: Retrospective analysis of patients with insulinoma managed during a 13-year period (1992-2005) at a tertiary-level institution. RESULTS: 31 patients (mean age 38.4 [SD 13.3] years; 16 men) presented with hypoglycemic symptoms for 4.6 (5.5) years. In 22 (71%) patients, the lesion was successfully localized pre-operatively. Of various pre-operative localization techniques, CT angiography (5/6; 83%), intra-arterial digital subtraction angiography (11/17; 65%), dual-phase CT (8/14; 57%) and conventional MRI (4/13; 31%) had high rates of successful tumor localization. Intra-operative palpation and ultrasonography also had localization success rates (22/30 [76%] and 11/12 [92%], respectively); each identified one lesion that the other procedure did not localize. Of the 30 patients who underwent surgery, 28 had solitary tumor. CONCLUSION: Pre-operative investigations to localize insulinoma are helpful despite the availability of intra-operative ultrasound. Dual-phase CT should be the non-invasive investigation of first choice.
A 36 year old lady, presented with symptoms of proximal myopathy was found to have a history of thyrotoxicosis for which she had taken carbimazole irregularly for 1-1/2 years. On admission, clinical signs of thyrotoxicosis were detected and confirmed by estimating serum T3 and T4. Neurological examination revealed generalised wasting, loss of power in the proximal muscles with a myopathy confirmed on EMG. Serum calcium, phosphorous levels, and a 24 hour urine calcium excretion were low. Alkaline phosphatase levels were high. A diagnosis of thyrotoxicosis with osteomalacia was made. The patient improved within 3 weeks of starting carbimazole and vitamin D.