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.
Farlex Partner Medical Dictionary © Farlex 2012

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.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

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.
Medical Dictionary, © 2009 Farlex and Partners

Reifenstein,

Edward C., Jr., U.S. endocrinologist, 1908-1975.
Reifenstein syndrome - a familial form of male pseudohermaphroditism.
Medical Eponyms © Farlex 2012
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