complete androgen insensitivity
Reifenstein's syndrome
The features of this form of male pseudohermaphroditism are hypospadias, hypogonadism, gynecomastia, normal XY karyotype, and a pedigree pattern consistent with X-linked recessive inheritance.
Macroscopical synopsis:
Gynecomastia
Bifid scrotum
Microphallus
Hypospadias
Male pseudohermaphroditism
Hypogonadism
Absent vas deferens
Microscopical synopsis:
Leydig cell hyperplasia
hyaline tubular ghosts
mitotic germ cells but no spermatozoa
Etiology:
mutations in the androgen receptor gene (AR - MIM.313700)
MIM.312300
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