A patient with X-linked adrenal hypoplasia congenital and central precocious puberty caused by a novel NROB1 gene mutation

VernacularTitle:NROB1基因新突变所致先天性肾上腺发育不良患儿以中枢性性早熟发病
Author: Minlian DU ; Yanhong LI ; Jun ZHANG ; Hongshan CHEN
Publication Type:Journal Article
Keywords: NROB1 gene; Mutation; Adrenal hypoplasia congenital; Central precocious puberty
From: Chinese Journal of Endocrinology and Metabolism 2015;(2):116-119
CountryChina
Language:Chinese
Abstract: Objective To explore the possible role of NROB1 gene played in regulating hypothalamic-pituitary-gonad axis(HPGA) by analyzing the clinical and molecular characteristics in a case of central precocious puberty(CPP) with NROB1 gene mutation. Methods Clinical characteristics and direct sequencing of NROB1 gene in the patient were analyzed. Results A 11-month-old boy with manifested premature puberty, enlargement of penis/testes, and penile erection, but without manifestations of adrenal insufficiency was reportd. Clinical diagnosis was adrenal hypoplasia congenita( AHC) with CPP. The NR0B1 gene sequencing revealed a novel mutation in exon 1 (913C> T). Conclusion NR0B1 gene mutation may lead to the development of CPP in the patient with AHC. However, the mechanism remains unclear and thus deserves further exploration.