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Article

Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations.

Indian journal of pediatrics - 1 Jun 2022

Gupta Priyanka, Sharma Rajni, Jain Vandana

Abstract excerpt

Adrenal hypoplasia congenita (AHC) is a rare disorder of the adrenal gland due to mutations in the nuclear receptor superfamily 0, group B, member 1 (NR0B1) gene. It commonly presents with adrenal insufficiency and hypogonadotropic hypogonadism, but there is a wide variability in the age as well as the clinical phenotype at presentation. Also, the mechanism of pubertal abnormalities in this condition, which...

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PMID: 35230670
DOI: 10.1007/s12098-021-04055-2

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