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 journalArticlepeer-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 languageEnglish
Pages (from-to)60-66
Number of pages7
JournalSexual Development
Volume13
Issue number2
DOIs
Publication statusPublished - 2019 Jun 1

Keywords

  • Hypergonadotropic hypogonadism
  • NR5A1
  • Testicular disorder of sexual development
  • Testosterone supplementation

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Embryology
  • Developmental Biology

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