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.

• Authors: L Perrone, T Criscuolo, A A Sinisi, M Graziani, T Manzo, R Sicuranza, A Bellastella, M Faggiano
• Journal: Acta endocrinologica (Acta Endocrinol (Copenh)) Vol. 110 Issue 4 Pg. 532-9 (Dec 1985) ISSN: 0001-5598 [Print] Denmark
• PMID: 3867211 (Publication Type: Case Reports, Journal Article)

Chemical References

• Melanins
• Steroids
• 3-Hydroxysteroid Dehydrogenases

Topics

• 3-Hydroxysteroid Dehydrogenases (deficiency)
• Abnormalities, Multiple (enzymology, genetics)
• Consanguinity
• Disorders of Sex Development (enzymology, genetics)
• Heart Septal Defects, Atrial (enzymology, genetics)
• Humans
• Hypospadias (enzymology, genetics)
• Infant
• Male
• Melanins (analysis)
• Steroids (metabolism)