Male pseudohermaphroditism with 5-alpha-reductase deficiency: report of two new familial cases. The importance of early diagnosis

We report two new familial cases of male pseudohermaphroditism due to 5-alpha-reductase deficiency, from the south of Spain. They were born with ambiguous genitalia and were reared as females. At the time of puberty, both brothers virilized partially and underwent a change of gender role from female...

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Bibliographic Details
Published in:	Journal of pediatric endocrinology & metabolism : JPEM Vol. 8; no. 1; p. 67
Main Authors:	Aguilar-Diosdado, M, Gavilán-Villarejo, I, Escobar-Jiménez, L, Beltrán, J, Girón, J A
Format:	Journal Article
Language:	English
Published:	Germany 01-01-1995
Subjects:	3-Oxo-5-alpha-Steroid 4-Dehydrogenase - blood 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - deficiency 3-Oxo-5-alpha-Steroid 4-Dehydrogenase - physiology Adolescent Androsterone - urine Chorionic Gonadotropin Dihydrotestosterone - blood Disorders of Sex Development - blood Disorders of Sex Development - diagnosis Disorders of Sex Development - genetics Family Health Genes, Recessive Humans Karyotyping Male Spain Testosterone - blood Spain
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Summary:	We report two new familial cases of male pseudohermaphroditism due to 5-alpha-reductase deficiency, from the south of Spain. They were born with ambiguous genitalia and were reared as females. At the time of puberty, both brothers virilized partially and underwent a change of gender role from female to male with a stormy psychic readjustment period. We stress the value of the prolonged chorionic gonadotropin test for an early diagnosis.
ISSN:	0334-018X
DOI:	10.1515/JPEM.1995.8.1.67