NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty

Hirohito Shima; Shuichi Yatsuga; Akie Nakamura; Shinichiro Sano; Takako Sasaki; Noriyuki Katsumata; Erina Suzuki; Kenichiro Hata; Kazuhiko Nakabayashi; Yukihide Momozawa; Michiaki Kubo; Kohji Okamura; Shigeo Kure; Yoichi Matsubara; Tsutomu Ogata; Satoshi Narumi; Maki Fukami

doi:10.1159/000448726

NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty

Hirohito Shima, Shuichi Yatsuga, Akie Nakamura, Shinichiro Sano, Takako Sasaki, Noriyuki Katsumata, Erina Suzuki, Kenichiro Hata, Kazuhiko Nakabayashi, Yukihide Momozawa, Michiaki Kubo, Kohji Okamura, Shigeo Kure, Yoichi Matsubara, Tsutomu Ogata, Satoshi Narumi, Maki Fukami

HOSP - Pediatrics

Research output: Contribution to journal › Article › peer-review

8 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	205-209
Number of pages	5
Journal	Sexual Development
Volume	10
Issue number	4
DOIs	https://doi.org/10.1159/000448726
Publication status	Published - 2016 Oct 1

Keywords

Adrenal insufficiency
DAX1
GnRH
Hypothalamus-pituitary-gonadal axis
Mutation
Puberty

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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title = "NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty",

abstract = "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.",

keywords = "Adrenal insufficiency, DAX1, GnRH, Hypothalamus-pituitary-gonadal axis, Mutation, Puberty",

author = "Hirohito Shima and Shuichi Yatsuga and Akie Nakamura and Shinichiro Sano and Takako Sasaki and Noriyuki Katsumata and Erina Suzuki and Kenichiro Hata and Kazuhiko Nakabayashi and Yukihide Momozawa and Michiaki Kubo and Kohji Okamura and Shigeo Kure and Yoichi Matsubara and Tsutomu Ogata and Satoshi Narumi and Maki Fukami",

note = "Funding Information: This study was supported by the National Center Biobank Network, by the Grant-in-Aid from the Japan Society for the Promotion of Science, by the Grant-in-Aid and for Scientific Research on Innovative Areas from the Ministry of Education, Culture, Sports, Science and Technology, and by the Grants from the Ministry of Health, Labor and Welfare, from the Japan Agency for Medical Research and Development, from the National Center for Child Health and Development, and from the Takeda foundation. Publisher Copyright: {\textcopyright} 2016 S. Karger AG, Basel.",

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doi = "10.1159/000448726",

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TY - JOUR

T1 - NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty

AU - Shima, Hirohito

AU - Yatsuga, Shuichi

AU - Nakamura, Akie

AU - Sano, Shinichiro

AU - Sasaki, Takako

AU - Katsumata, Noriyuki

AU - Suzuki, Erina

AU - Hata, Kenichiro

AU - Nakabayashi, Kazuhiko

AU - Momozawa, Yukihide

AU - Kubo, Michiaki

AU - Okamura, Kohji

AU - Kure, Shigeo

AU - Matsubara, Yoichi

AU - Ogata, Tsutomu

AU - Narumi, Satoshi

AU - Fukami, Maki

N1 - Funding Information: This study was supported by the National Center Biobank Network, by the Grant-in-Aid from the Japan Society for the Promotion of Science, by the Grant-in-Aid and for Scientific Research on Innovative Areas from the Ministry of Education, Culture, Sports, Science and Technology, and by the Grants from the Ministry of Health, Labor and Welfare, from the Japan Agency for Medical Research and Development, from the National Center for Child Health and Development, and from the Takeda foundation. Publisher Copyright: © 2016 S. Karger AG, Basel.

PY - 2016/10/1

Y1 - 2016/10/1

N2 - 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.

AB - 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.

KW - Adrenal insufficiency

KW - DAX1

KW - GnRH

KW - Hypothalamus-pituitary-gonadal axis

KW - Mutation

KW - Puberty

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ER -

NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty

Abstract

Keywords

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