Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1.

ABSTRACT:

Objective

What initiates the pubertal process in humans and other mammals is still unknown. We hypothesized that gene(s) taking roles in triggering human puberty may be identified by studying a cohort of idiopathic hypogonadotropic hypogonadism (IHH).

Methods

A cohort of IHH cases was studied based on autozygosity mapping coupled with whole exome sequencing.

Results

Our studies revealed three independent families in which IHH/delayed puberty is associated with inactivating SRA1 variants. SRA1 was the first gene to be identified to function through its protein as well as noncoding functional ribonucleic acid products. These products act as co-regulators of nuclear receptors including sex steroid receptors as well as SF-1 and LRH-1, the master regulators of steroidogene

SUBMITTER: Kotan LD 

PROVIDER: S-EPMC5096466 | biostudies-literature | 2016 Jun

REPOSITORIES: biostudies-literature