NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty
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DOI：
10.1159/000448726
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发表时间：
2016-01-01
影响因子：
2.3
通讯作者：
Fukami, Maki
中科院分区：
文献类型：
--
作者：
Shima, Hirohito;Yatsuga, Shuichi;Fukami, Maki
NR0B1是X连锁先天性肾上腺发育不全的致病基因，其特征是肾上腺功能不全、低促性腺激素性性腺功能减退和不育。我们在一个没有肾上腺功能不全迹象的性早熟男孩中发现了一个NR0B1移码突变。血液检查显示睾酮水平升高，对促性腺激素释放激素（GnRH）刺激的促性腺激素反应过度，肾上腺激素水平正常。GnRH类似物治疗部分改善了他的临床特征。分子分析鉴定了NR0B1中的p.Glu3fsAla*16。这些结果扩大了NR0B1突变的临床表现，包括中枢性性早熟无肾上腺功能不全。NR0B1突变可能是通过GnRH依赖性和非依赖性机制导致雄激素过度产生的基础。(C)2016 S. Karger AG，巴塞尔。
NR0B1 is the causative gene for X-linked adrenal hypoplasia congenita, characterized by adrenal insufficiency, hypogonadotropic hypogonadism, and infertility. We identified an NR0B1 frameshift mutation in a boy with precocious puberty who had no signs of adrenal insufficiency. Blood examination revealed elevated testosterone levels and gonadotropin hyperresponses to gonadotropin releasing hormone (GnRH) stimulation, together with normal adrenal hormone levels. GnRH analog treatment partially ameliorated his clinical features. Molecular analysis identified a p.Glu3fsAla*16 in NR0B1. These results expand the clinical manifestations of NR0B1 mutations to include central precocious puberty without adrenal insufficiency. NR0B1 mutations likely underlie androgen overproduction via GnRH-dependent and -independent mechanisms. (C) 2016 S. Karger AG, Basel.