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Article

A rare case of central precocious puberty in a male infant with adrenal hypoplasia congenita.

Journal of pediatric endocrinology & metabolism : JPEM - 17 Dec 2024

Mastoropoulou Aikaterini, Lane Andrew H

Abstract excerpt

OBJECTIVES: We describe a male with adrenal hypoplasia congenita (AHC) caused by a novel mutation in NR0B1, who was noted at 9 months of age to have central precocious puberty (CPP). CASE PRESENTATION: A 3-week-old full-term male presented with hypothermia and lethargy, and a 0.3 kg weight loss since birth. Labs were consistent with adrenal crisis, he was stabilized with stress dose hydrocortisone (HC), insulin,...

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Identifiers

PMID: 39468683
DOI: 10.1515/jpem-2024-0321

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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