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 to male with a stormy psychic readjustment period. We stress the value of the prolonged chorionic gonadotropin test for an early diagnosis.
Aguilar-Diosdado
M
M
Endocrinology Unit, Hospital "Puerta del Mar", Cádiz, Spain.
Gavilán-Villarejo
I
I
Escobar-Jiménez
L
L
Beltrán
J
J
Girón
J A
JA
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000097:blood / Q000172:deficiency* / Q000502:physiology; D000293:Adolescent; D000738:Androsterone / Q000652:urine; D006063:Chorionic Gonadotropin; D013196:Dihydrotestosterone / Q000097:blood; D012734:Disorders of Sex Development / Q000097:blood / Q000175:diagnosis* / Q000235:genetics*; D005192:Family Health; D005808:Genes, Recessive; D006801:Humans; D007621:Karyotyping; D008297:Male; D013030:Spain; D013739:Testosterone / Q000097:blood
D006063:Chorionic Gonadotropin; D013196:Dihydrotestosterone; D013739:Testosterone; D000738:Androsterone; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase