A follow-up from infancy to puberty in a Japanese male with SRY -Negative 46,XX Testicular disorder of sex development carrying a p.Arg92Trp mutation in NR5A1

Akiko Saito-Hakoda; Junko Kanno; Dai Suzuki; Sayaka Kawashima; Miki Kamimura; Koji Hirano; Kiyohide Sakai; Maki Igarashi; Maki Fukami; Ikuma Fujiwara

doi:10.1159/000496777

A follow-up from infancy to puberty in a Japanese male with SRY -Negative 46,XX Testicular disorder of sex development carrying a p.Arg92Trp mutation in NR5A1

Akiko Saito-Hakoda, Junko Kanno, Dai Suzuki, Sayaka Kawashima, Miki Kamimura, Koji Hirano, Kiyohide Sakai, Maki Igarashi, Maki Fukami, Ikuma Fujiwara

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

2 Citations (Scopus)

Abstract

SRY-negative 46,XX testicular disorders of sex development (DSD) are very rare conditions. Recently, we identified a novel heterozygous NR5A1 mutation, p.Arg92Trp (c.274C>T, p.R92W), in 2 unrelated cases of 46,XX testicular/ovotesticular DSD. We report the clinical course from infancy to puberty in a Japanese male with SRY-negative 46,XX testicular DSD, carrying this p.Arg92Trp mutation in NR5A1. The patient naturally acquired the development of a penis and pubic hair during puberty. However, hypergonadotropic hypogonadism subsequently developed. More clinical cases will be needed to fully understand the effects of the p.Arg92Trp mutation on the ability to maintain testosterone secretion in 46,XX testicular DSD.

Original language	English
Pages (from-to)	60-66
Number of pages	7
Journal	Sexual Development
Volume	13
Issue number	2
DOIs	https://doi.org/10.1159/000496777
Publication status	Published - 2019 Jun 1
Externally published	Yes

Keywords

Hypergonadotropic hypogonadism
NR5A1
Testicular disorder of sexual development
Testosterone supplementation

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Embryology
Developmental Biology

UN SDGs

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

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10.1159/000496777

Cite this

Saito-Hakoda, A, Kanno, J , Suzuki, D , Kawashima, S, Kamimura, M, Hirano, K, Sakai, K, Igarashi, M, Fukami, M & Fujiwara, I 2019, 'A follow-up from infancy to puberty in a Japanese male with SRY -Negative 46,XX Testicular disorder of sex development carrying a p.Arg92Trp mutation in NR5A1', Sexual Development, vol. 13, no. 2, pp. 60-66. https://doi.org/10.1159/000496777

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title = "A follow-up from infancy to puberty in a Japanese male with SRY -Negative 46,XX Testicular disorder of sex development carrying a p.Arg92Trp mutation in NR5A1",

abstract = "SRY-negative 46,XX testicular disorders of sex development (DSD) are very rare conditions. Recently, we identified a novel heterozygous NR5A1 mutation, p.Arg92Trp (c.274C>T, p.R92W), in 2 unrelated cases of 46,XX testicular/ovotesticular DSD. We report the clinical course from infancy to puberty in a Japanese male with SRY-negative 46,XX testicular DSD, carrying this p.Arg92Trp mutation in NR5A1. The patient naturally acquired the development of a penis and pubic hair during puberty. However, hypergonadotropic hypogonadism subsequently developed. More clinical cases will be needed to fully understand the effects of the p.Arg92Trp mutation on the ability to maintain testosterone secretion in 46,XX testicular DSD.",

keywords = "Hypergonadotropic hypogonadism, NR5A1, Testicular disorder of sexual development, Testosterone supplementation",

author = "Akiko Saito-Hakoda and Junko Kanno and Dai Suzuki and Sayaka Kawashima and Miki Kamimura and Koji Hirano and Kiyohide Sakai and Maki Igarashi and Maki Fukami and Ikuma Fujiwara",

note = "Funding Information: We are grateful to Dr. Fumiyoshi Fujishima and Dr. Yuto Yamazaki (Department of Pathology, Tohoku University Hospital, Sendai, Japan) for the immunohistochemical technical support and helpful advices. This work was supported by Japan Society for the Promotion of Science (JSPS) KAKENHI Grant Number 15K09420 (for ASH). Publisher Copyright: {\textcopyright} 2019 S. Karger AG, Basel.",

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doi = "10.1159/000496777",

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AU - Saito-Hakoda, Akiko

AU - Kanno, Junko

AU - Suzuki, Dai

AU - Kawashima, Sayaka

AU - Kamimura, Miki

AU - Hirano, Koji

AU - Sakai, Kiyohide

AU - Igarashi, Maki

AU - Fukami, Maki

AU - Fujiwara, Ikuma

N1 - Funding Information: We are grateful to Dr. Fumiyoshi Fujishima and Dr. Yuto Yamazaki (Department of Pathology, Tohoku University Hospital, Sendai, Japan) for the immunohistochemical technical support and helpful advices. This work was supported by Japan Society for the Promotion of Science (JSPS) KAKENHI Grant Number 15K09420 (for ASH). Publisher Copyright: © 2019 S. Karger AG, Basel.

PY - 2019/6/1

Y1 - 2019/6/1

N2 - SRY-negative 46,XX testicular disorders of sex development (DSD) are very rare conditions. Recently, we identified a novel heterozygous NR5A1 mutation, p.Arg92Trp (c.274C>T, p.R92W), in 2 unrelated cases of 46,XX testicular/ovotesticular DSD. We report the clinical course from infancy to puberty in a Japanese male with SRY-negative 46,XX testicular DSD, carrying this p.Arg92Trp mutation in NR5A1. The patient naturally acquired the development of a penis and pubic hair during puberty. However, hypergonadotropic hypogonadism subsequently developed. More clinical cases will be needed to fully understand the effects of the p.Arg92Trp mutation on the ability to maintain testosterone secretion in 46,XX testicular DSD.

AB - SRY-negative 46,XX testicular disorders of sex development (DSD) are very rare conditions. Recently, we identified a novel heterozygous NR5A1 mutation, p.Arg92Trp (c.274C>T, p.R92W), in 2 unrelated cases of 46,XX testicular/ovotesticular DSD. We report the clinical course from infancy to puberty in a Japanese male with SRY-negative 46,XX testicular DSD, carrying this p.Arg92Trp mutation in NR5A1. The patient naturally acquired the development of a penis and pubic hair during puberty. However, hypergonadotropic hypogonadism subsequently developed. More clinical cases will be needed to fully understand the effects of the p.Arg92Trp mutation on the ability to maintain testosterone secretion in 46,XX testicular DSD.

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A follow-up from infancy to puberty in a Japanese male with SRY -Negative 46,XX Testicular disorder of sex development carrying a p.Arg92Trp mutation in NR5A1

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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