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Biomedical subjects

M Genel

Publications and source records attributed to M Genel.

At least 91 records · Page 5Linked to original sources
PubMed1977

Steroid profile in a case of adrenal carcinoma with severe hypertension.

The case of a young boy who had Cushing's syndrome and severe hypertension in association with metastatic adrenal carcinoma is described. Marked elevation of the mineralocorticoid 11-deoxycorticosterone was demonstrated in the plasma. 11-Deoxycortisol, 17alpha-hydroxyprogesterone, and urinary tetrahydro-11-deoxycortisol and pregnanetriol were also elevated. Aldosterone excretion was low. The data implicate defective 11beta hydroxylation and suggest that excessive 11-deoxycorticosterone production may have been responsible for the hypertension.

17-Hydroxycorticosteroids↗
PubMed1977

Intraerythrocytic adaptation (2,3 DPG,P50) in thalassemia minor.

P50 and 2,3 DPG content of erythrocytes were determined in 25 patients with heterozygous beta thalassemia minor to assess the adaptive mechanisms to anemia. 2,3 DPG levels were appropriately elevated for the degree of anemia. However, P50 values were not proportionately increased. No correlations were noted between hemoglobin level, 2,3 DPG, or P50 and the presence of symptomatic complaints of fatigue or weakness in these heterozygous patients.

Diphosphoglyceric Acids↗
PubMed1977

False elevation of plasma cortisol in congenital adrenal hyperplasia.

Plasma cortisol values in seven patients with the 21-hydroxylase variant of CAH ranged from 9 to 35 micron/100 ml. (mean+/-S.E.=22+/-4) as determined fluorimetrically and from 22 to 35 microng/100 ml. (26+/-2) by competitive protein-binding radioassay. In these same patients the cortisol values obtained after Sephadex LH-20 column chromatography were much lower, ranging from 1 to 12.5 microng/100 ml. (5+/-2, p less than 0.01). In six normal subjects, cortisol values were similar before and after chromatography. Plasma concentrations of progesterone, 17alpha-hydroxyprogesterone, and 21-deoxycortisol in the CAH patients were increased 10 to 100-fold. The elevated cortisol values determined by customary methods were shown to be due to cross-interference of these and other steroids in the assays. Plasma cortisol values obtained routinely are falsely elevated and therefore misleading as a gauge of adrenal insufficiency in CAH.

Adolescent↗
PubMed1975

Long-term therapy of viramin D-resistant richets with 25-hydroxycholecalciferol.

The long-term effects of the vitamin D metabolite, 25-hydroxycholecalciferol (25-HCC), were evaluated in 2 children with hypophosphatemic vitamin D-resistant rickets. Serial total balance studies demonstrated an apparent lack of correlation between the effects of the vitamin on intestinal absorption of calcium and phosphorus and both the onset of healing in 1 of the 2 patients treated with 5,000 to 7,500 u of the metabolite and the absence of demonstrable radiologic improvement in another patient in whom the final dosage was 20,000 u. per day. At first, the metabolite induced a positive calcium balance in both patients resulting largely from a reduction in intestinal calcium excretion. Despite a continued positive calcium balance, 1 of the 2 patients did not demonstrate further healing, while in the other patient healing was noted even when total calcium balance was negative. Serum phosphate levels did not return to normal in either patient, nor was phosphate excretion altered by 25-HCC. Serum alkaline phosphatase remained elevated in both. Serum immunoassayable parathyroid hormone levels were consistently normal to high-normal in the 2 patients throughout more than 24 months of observation. No instances of hypercalcemia and only occasional hypercalciuric episodes were noted.

Alkaline Phosphatase↗
PubMed1975

Persistent testicular delta5-isomerase-3beta-hydroxysteroid dehydrogenase (delta5-3beta-HSD) deficiency in the delta5-3beta-HSD form of congenital adrenal hyperplasia.

A partial testicular defect in testosterone secretion has been documented in a pubertal male with a congenital adrenal hyperplasia due to hereditary deficiency of the delta5-isomerase-3beta-hydroxysteroid dehydrogenase enzyme complex (delta5-3beta-HSD). Diagnosis of the enzymatic defect is based on the clinical picture of ambiguous genitalia and salt-losing crisis in infancy, together with high urinary delta5-pregnenetriol and plasma dehydroepiandrosterone when the patient was taken off replacement corticoid treatment. No hormonal response to ACTH or salt deprivation was demonstrable. In addition, in vivo studies revealed a partial enzymatic defect in the testis. Although plasma testosterone was low-normal (250 ng/100 ml), plasma delta5-androstenediol was markedly elevated and rose to a greater extent than testosterone after human chorionic gonadotropin administration. In vitro testicular incubation studies suggested a testicular delta5-3beta-HSD enzyme defect with less delta4 products formed from delta5 precursors than in a control testis. Histochemical studies of the testis were also consistent with this defect. Testicular biopsy revealed spermatogenic arrest, generally diminished Leydig cells, but with focal areas of Leydig cell hyperplasia as well as benign Leydig cell hyperplasia as well as benign Leudig cell nodules within the spermatic cord. In vivo studies of steroid metabolism suggested intact peripheral or hepatic delta5-3beta-HSD activity. These studies imply that delta5-3beta-HSD activity differs in the gonad, adrenal, and peripheral organs. These findings are compatible with the concept that the enzyme complex consists of subunits and/or that enzymes in these organs are under different genetic control.

17-alpha-Hydroxypregnenolone↗