Abstract
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 include not just delayed or absent pubertal development, but also precocious puberty in a small proportion of cases, is not clear. In this paper, three unrelated patients with 3 different mutations are described, who presented with variable age of onset of adrenal insufficiency, gonadal development, and puberty, highlighting the need for high index of suspicion of this condition in children presenting with atypical features of adrenal insufficiency.
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PG collected the data and drafted the manuscript; RS helped with clinical care, and provided inputs to the paper; VJ conceived the paper, critically revised, and finalized the manuscript. All authors have approved the final manuscript. VJ will act as the guarantor for this paper.
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Gupta, P., Sharma, R. & Jain, V. Adrenal Hypoplasia Congenita—Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations. Indian J Pediatr 89, 587–590 (2022). https://doi.org/10.1007/s12098-021-04055-2
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DOI: https://doi.org/10.1007/s12098-021-04055-2