Male pseudohermaphroditism due to 17-ketoreductase deficiency: Report of a case without gynecomastia and without vaginal pouch

A black adult subject, exhibiting complete virilization at puberty with psychological female orientation, was investigated. An older sister had similar physical habitus. Hormonal data showed an androstenedione/testosterone ratio > 1. This led us to the diagnosis of 17-ketoreductase deficiency, wi...

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Veröffentlicht in:	American journal of obstetrics and gynecology 1986-01, Vol.154 (1), p.148-149
1. Verfasser:	Caufriez, Anne
Format:	Artikel
Sprache:	eng
Schlagworte:	17-Hydroxysteroid Dehydrogenases - deficiency 17-ketoreductase deficiency Adrenocorticotropic Hormone Adult Biological and medical sciences Chorionic Gonadotropin Disorders of Sex Development - enzymology Disorders of Sex Development - genetics Disorders of Sex Development - surgery Female Gynecology. Andrology. Obstetrics Gynecomastia - pathology Hormones - blood Humans Male Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance Male pseudohermaphroditism Medical sciences Vagina - abnormalities
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Beschreibung
Zusammenfassung:	A black adult subject, exhibiting complete virilization at puberty with psychological female orientation, was investigated. An older sister had similar physical habitus. Hormonal data showed an androstenedione/testosterone ratio > 1. This led us to the diagnosis of 17-ketoreductase deficiency, with possible genetic transmission of the defect.
ISSN:	0002-9378 1097-6868
DOI:	10.1016/0002-9378(86)90413-8