title: Male pseudohermaphroditism due to 3 beta-hydroxysteroid dehydrogenase-isomerase deficiency associated with atrial septal defect.
abstract: Male pseudohermaphroditism in a 6 month old boy, due to congenital 3 beta-hydroxysteroid dehydrogenase deficiency, associated with atrial septal defect, is reported. At 2 weeks he required therapy for severe dehydration and projectile vomiting. The parents were first cousins and one female sibling had died suddenly at 2 months. The patient presented with melanoderma, perineal hypospadias with testicles in a bifid scrotum and atrial septal defect (ostium secundum). Complete cytogenetic studies showed a 46,XY karyotype. Serum sodium ranged from 129 to 140 mEq/l and serum potassium from 5.1 to 4.6 mEq/l. Basal plasma hormonal studies showed normal androstenedione (delta 4A), decreased cortisol (F), slightly elevated ACTH, 17-hydroxy-progesterone (17-OH-P) and testosterone (T), and highly increased dehydroepiandrosterone-sulphate (DHEA-S) levels. ACTH stimulation increased and DXM suppression decreased the plasma levels of DHEA-S, 17-OH-P and T but not that of F; hCG stimulation during cortisone therapy did not change the levels of DHEA-S and T. Corticosteroid therapy normalized electrolyte levels and reduced melanoderma and hormonal hypersecretion. Moderately elevated plasma levels of 17-OH-P and T suggest a partial testicular 3 beta-HSD deficiency. The multifactorial inheritance and the relatively high prevalence of atrial septal defect vs the rarity of adrenal enzymatic defect suggest a causal association even if a common genetic factor cannot be excluded.
mesh_terms: D015096:3-Hydroxysteroid Dehydrogenases / Q000172:deficiency*; D000015:Abnormalities, Multiple / Q000201:enzymology* / Q000235:genetics; D003241:Consanguinity; D012734:Disorders of Sex Development / Q000201:enzymology* / Q000235:genetics; D006344:Heart Septal Defects, Atrial / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D007021:Hypospadias / Q000201:enzymology / Q000235:genetics; D007223:Infant; D008297:Male; D008543:Melanins / Q000032:analysis; D013256:Steroids / Q000378:metabolism
chemical_list: D008543:Melanins; D013256:Steroids; D015096:3-Hydroxysteroid Dehydrogenases