A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency.

ABSTRACT:

Context

Type 1 familial glucocorticoid deficiency (FGD) (OMIM #607397) is a rare autosomal recessive disorder due to mutations in melanocortin-2-receptor (MC2R) gene encoding the G protein-coupled adrenocorticotropic (ACTH) transmembrane receptor.

Objective

The aim of the study is to describe 2 siblings born to a healthy consanguineous family presenting with clinical and biochemical features of FGD, harboring a novel homozygous MC2R variant.

Methods

Both patients are siblings born at term via normal delivery with normal birth weights. The first sibling presented with symptoms of hypoglycemia, repeated episodes of infections starting from 2 days of age. At 18 months of age, low serum cortisol was found, and he was started on hydrocortisone replacement therapy. The seco

SUBMITTER: Mohammed I 

PROVIDER: S-EPMC9049112 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature