Zenteno JC, Chávez B, Queipo G, Kofman-Alfaro S

Language: Spanish
References: 18
Page: 208-211
PDF size: 83.23 Kb.

ABSTRACT

Androgen insensitivity is a hereditary form of male pseudohermaphroditism which is transmitted with an X-linked recessive pattern. The clinical picture in affected subjects is highly variable: in the complete forms females external genitalia and mammary gland development can be observed while in partial or incomplete forms, several degrees of genital ambiguity are present. Mutations in the androgen receptor gene, disrupting normal male virilization of the external and internal genitalia, have been demonstrated as the cause of the disease. In this report, we describe the clinical, endocrinological, and genetic findings in a Mexican patient with partial androgen insensitivity syndrome and in whom a mutation in the androgen receptor was identified.

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