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Article

Pleomorphism of the HPG axis with NR0B1 gene mutation - a case report of longitudinal follow-up of a proband with central precocious puberty.

Journal of pediatric endocrinology & metabolism : JPEM - 26 Jul 2022

Zhang Jun, Chen Qiuli, Guo Song, Li Yanhong, Ma Huamei, Zheng Rujiang, Du Minlian

Abstract excerpt

OBJECTIVES: X-linked adrenal hypoplasia congenita (AHC) is characterized by adrenal insufficiency and hypogonadotropic hypogonadism. Herein, we report a rare case of X-linked AHC with central precocious puberty (CPP). CASE PRESENTATION: An 11-month-old male patient was found to have premature pubarche, enlargement of the penis, and frequent erection. LH and FSH levels after the GnRHa test were in the pubertal...

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Identifiers

PMID: 35417110
DOI: 10.1515/jpem-2021-0762

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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