Dissemin is shutting down on January 1st, 2025

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Karger Publishers, Sexual Development, 2(13), p. 60-66, 2019

DOI: 10.1159/000496777

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A Follow-Up from Infancy to Puberty in a Japanese Male with<b><i> SRY</i></b>-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in <b><i>NR5A1</i></b>

Journal article published in 2019 by Akiko Saito-Hakoda, Junko Kanno, Dai Suzuki, Sayaka Kawashima, Miki Kamimura, Koji Hirano, Kiyohide Sakai, Maki Igarashi ORCID, Maki Fukami ORCID, Ikuma Fujiwara
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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Abstract

<i>SRY</i>-negative 46,XX testicular disorders of sex development (DSD) are very rare conditions. Recently, we identified a novel heterozygous <i>NR5A1 </i>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 <i>SRY</i>-negative 46,XX testicular DSD, carrying this p.Arg92Trp mutation in <i>NR5A1</i>. 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.