title: [Male pseudohermaphroditism due to 17-alpha-hydroxylase deficiency].
abstract: A case of 17-alpha-hydroxylase deficiency in a genotypic male is described. The patient, who had grown up as a female, at the age of 18 years by chance was seen for enteritis. She presented primary amenorrhea and lack of secondary sexual characteristics combined with hypertension and mild hypokalemia due to excess of mineralcorticoids. The hormonal profile observed under basal conditions was evocative of a deficiency in 17-alpha-hydroxylase. High plasma aldosterone concentrations, in the face of suppressed PRA, were related to interference in RIA method: low plasma aldosterone values were observed when HPLC separation was applied. Eunucoid appearance and gigantism (195 cm) has rarely been observed as a fenotypic expression of this enzymatic deficit, but are justified by deficiency of both androgens and estrogens.
authors.affiliation: Istituto di Medicina Interna, Università degli Studi, Perugia.
authors.forename: L
authors.initials: L
authors.lastname: Bartolucci
authors.forename: M
authors.initials: M
authors.lastname: Fioretti
authors.forename: G
authors.initials: G
authors.lastname: Rossi
authors.forename: R
authors.initials: R
authors.lastname: Commissari
authors.forename: C
authors.initials: C
authors.lastname: Valori
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital; D000450:Aldosterone / Q000097:blood; D003937:Diagnosis, Differential; D012734:Disorders of Sex Development / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000201:enzymology*; D005260:Female; D005838:Genotype; D005877:Gigantism / Q000209:etiology; D006801:Humans; D008297:Male
chemical_list: D000450:Aldosterone
vernacular_title: Pseudoermafroditismo maschile da deficit di 17-alpha-idrossilasi.