ArticleIndian journal of pediatrics2022
Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations.
Article in Indian journal of pediatrics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 4 citations in OpenAlex.
- Risk factors and preventive strategies for precocious puberty: a narrative review.Frontiers in pediatrics · 2026Review
- Article
- A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita.Annals of pediatric endocrinology & metabolism · 2024Article
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3 authors at 1 institution in 1 country.
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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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