[Male pseudohermaphroditism related to 17-alpha hydroxylase deficiency].
A case of male pseudohermaphroditism with adrenal failure and female external genitalia is described. The hormonal pattern and the clinical evolution of the patient are compatible to a partial 17 alpha hydroxylase deficiency.
Liotta
A
A
Clinica Pediatrica I, Università di Palermo, Italia.
Cammarata
M
M
Corsello
G
G
Ferrara
D
D
Giuffrè
L
L
D000312:Adrenal Hyperplasia, Congenital; D000324:Adrenocorticotropic Hormone / Q000097:blood; D003241:Consanguinity; D012734:Disorders of Sex Development / Q000188:drug therapy / Q000209:etiology* / Q000235:genetics; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D007223:Infant; D007621:Karyotyping; D008297:Male; D008775:Methylprednisolone / Q000627:therapeutic use; D013250:Steroid Hydroxylases / Q000172:deficiency*
D000324:Adrenocorticotropic Hormone; D013250:Steroid Hydroxylases; D006854:Hydrocortisone; D008775:Methylprednisolone
Pseudoermafroditismo maschile riferibile al deficit di 17-alpha-idrossilasi.