Increased Burden of Rare Sequence Variants in GnRH-Associated Genes in Women With Hypothalamic Amenorrhea.

ABSTRACT:

Context

Functional hypothalamic amenorrhea (HA) is a common, acquired form of hypogonadotropic hypogonadism that occurs in the setting of energy deficits and/or stress. Variability in individual susceptibility to these stressors, HA heritability, and previous identification of several rare sequence variants (RSVs) in genes associated with the rare disorder, isolated hypogonadotropic hypogonadism (IHH), in individuals with HA suggest a possible genetic contribution to HA susceptibility.

Objective

We sought to determine whether the burden of RSVs in IHH-related genes is greater in women with HA than controls.

Design

We compared patients with HA to control women.

Setting

The study was conducted at secondary referral centers.

Patients and other participants

SUBMITTER: Delaney A 

PROVIDER: S-EPMC7947783 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature