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NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty. 2016
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
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
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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