Reifenstein syndrome

Reif·en·stein syn·drome

(rī'fĕn-stīn), [MIM*312300 and MIM*313700]
partial androgen sensitivity; a familial form of male pseudohermaphroditism characterized by varying degrees of ambiguous genitalia or hypospadias, postpubertal development of gynecomastia, and infertility associated with seminiferous tubular sclerosis; cryptorchidism may be present, and Leydig cell hypofunction may lead to impotence in later years; chromosomal studies show 46,XY karyotype; X-linked recessive inheritance, caused by mutation in the androgen receptor gene (AR) on Xq.

Reif·en·stein syn·drome

(rīf'ĕn-stīn sin'drōm)
Partial androgen sensitivity; a familial form of male pseudohermaphroditism characterized by varying degrees of ambiguous genitalia or hypospadias, postpubertal development of gynecomastia, and infertility associated with seminiferous tubular sclerosis; cryptorchidism may be present, and Leydig cell hypofunction may lead to impotence in later years; chromosomal studies show 46,XY karyotype; X-linked recessive inheritance, caused by mutation in the androgen receptor gene (AR) on Xq.

Reifenstein syndrome

(rīf′ĕn-shtīn″)
[Edward Conrad Reifenstein, Jr., U.S. endocrinologist, 1908–1975]
A rare X-linked condition in which males have a genetic alteration in their androgen receptors, which blocks the effect of testosterone and related hormones on the development of male secondary sexual characteristics. Boys with the syndrome have both small penises and pseudovaginas at birth and therefore an intersexed appearance.

Reifenstein,

Edward C., Jr., U.S. endocrinologist, 1908-1975.
Reifenstein syndrome - a familial form of male pseudohermaphroditism.