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

Research output: Contribution to journalArticle

3 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 languageEnglish
Pages (from-to)205-209
Number of pages5
JournalSexual Development
Volume10
Issue number4
DOIs
Publication statusPublished - 01-10-2016

Fingerprint

Adrenal Insufficiency
Frameshift Mutation
Gonadotropin-Releasing Hormone
Precocious Puberty
Mutation
Hypogonadism
Gonadotropins
Infertility
Androgens
Testosterone
Hormones
Genes
Central Precocious Puberty
Therapeutics

All Science Journal Classification (ASJC) codes

  • Endocrinology, Diabetes and Metabolism
  • Embryology
  • Developmental Biology

Cite this

Shima, H., Yatsuga, S., Nakamura, A., Sano, S., Sasaki, T., Katsumata, N., ... Fukami, M. (2016). NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty. Sexual Development, 10(4), 205-209. https://doi.org/10.1159/000448726
Shima, Hirohito ; Yatsuga, Shuichi ; Nakamura, Akie ; Sano, Shinichiro ; Sasaki, Takako ; Katsumata, Noriyuki ; Suzuki, Erina ; Hata, Kenichiro ; Nakabayashi, Kazuhiko ; Momozawa, Yukihide ; Kubo, Michiaki ; Okamura, Kohji ; Kure, Shigeo ; Matsubara, Yoichi ; Ogata, Tsutomu ; Narumi, Satoshi ; Fukami, Maki. / NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty. In: Sexual Development. 2016 ; Vol. 10, No. 4. pp. 205-209.
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Shima, H, Yatsuga, S, Nakamura, A, Sano, S, Sasaki, T, Katsumata, N, Suzuki, E, Hata, K, Nakabayashi, K, Momozawa, Y, Kubo, M, Okamura, K, Kure, S, Matsubara, Y, Ogata, T, Narumi, S & Fukami, M 2016, 'NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty', Sexual Development, vol. 10, no. 4, pp. 205-209. https://doi.org/10.1159/000448726

NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty. / Shima, Hirohito; Yatsuga, Shuichi; Nakamura, Akie; Sano, Shinichiro; Sasaki, Takako; Katsumata, Noriyuki; Suzuki, Erina; Hata, Kenichiro; Nakabayashi, Kazuhiko; Momozawa, Yukihide; Kubo, Michiaki; Okamura, Kohji; Kure, Shigeo; Matsubara, Yoichi; Ogata, Tsutomu; Narumi, Satoshi; Fukami, Maki.

In: Sexual Development, Vol. 10, No. 4, 01.10.2016, p. 205-209.

Research output: Contribution to journalArticle

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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

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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.

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Shima H, Yatsuga S, Nakamura A, Sano S, Sasaki T, Katsumata N et al. NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty. Sexual Development. 2016 Oct 1;10(4):205-209. https://doi.org/10.1159/000448726