Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.

ABSTRACT:

Context

The melanocortin 3 receptor (MC3R) has recently emerged as a critical regulator of pubertal timing, linear growth, and the acquisition of lean mass in humans and mice. In population-based studies, heterozygous carriers of deleterious variants in MC3R report a later onset of puberty than noncarriers. However, the frequency of such variants in patients who present with clinical disorders of pubertal development is currently unknown.

Objective

This work aimed to determine whether deleterious MC3R variants are more frequently found in patients clinically presenting with constitutional delay of growth and puberty (CDGP) or normosmic idiopathic hypogonadotropic hypogonadism (nIHH).

Methods

We examined the sequence of MC3R in 362 adolescents with a clinical diagnosis

SUBMITTER: Duckett K 

PROVIDER: S-EPMC10655545 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature