[Hirsutism. Two familial cases of 21-hydroxylase deficiency].

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Article

[Hirsutism. Two familial cases of 21-hydroxylase deficiency].

Annales de dermatologie et de venereologie - 1 Jan 1995

Roux S, Morel Y, Gorin I, Escande J P

Abstract excerpt

INTRODUCTION: One to six percent of women with hirsutism have 21-hydroxylase deficiency. Beyond these classical congenital forms, the most frequent cases present non-specific signs of hyperandrogenism. The diagnosis of the deficiency is based on 17-hydroxy-progesteron (17-OHP) assay before and after ACTH stimulation. CASE REPORT: We observed 2 sisters with a non-classical deficiency in 21-hydroxylase. Their...

Topics

17-alpha-Hydroxyprogesterone
Adrenal Hyperplasia, Congenital
Adult
Female
Hirsutism
Homozygote
Humans
Hydroxyprogesterones
Molecular Biology
Mutation
Phenotype

Source

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Identifiers

PMID: 8687058

Provenance

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