Expanding the phenotype and genotype of female GnRH deficiency.

ABSTRACT:

Context

GnRH deficiency is a rare genetic disorder of absent or partial pubertal development. The clinical and genetic characteristics of GnRH-deficient women have not been well-described.

Objective

To determine the phenotypic and genotypic spectrum of a large series of GnRH-deficient women.

Design, setting, and subjects

Retrospective study of 248 females with GnRH deficiency evaluated at an academic medical center between 1980 and 2010.

Main outcome measures

Clinical presentation, baseline endogenous GnRH secretory activity, and DNA sequence variants in 11 genes associated with GnRH deficiency.

Results

Eighty-eight percent had undergone pubarche, 51% had spontaneous thelarche, and 10% had 1-2 menses. Women with spontaneous thelarche were more likely to

SUBMITTER: Shaw ND 

PROVIDER: S-EPMC3047229 | biostudies-literature | 2011 Mar

REPOSITORIES: biostudies-literature