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
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...
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| Veröffentlicht in: | Sexual development 2019-06, Vol.13 (2), p.60-66 |
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| creator | Saito-Hakoda, Akiko Kanno, Junko Suzuki, Dai Kawashima, Sayaka Kamimura, Miki Hirano, Koji Sakai, Kiyohide Igarashi, Maki Fukami, Maki Fujiwara, Ikuma |
| description | 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. |
| doi_str_mv | 10.1159/000496777 |
| format | Article |
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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.</description><identifier>ISSN: 1661-5425</identifier><identifier>EISSN: 1661-5433</identifier><identifier>DOI: 10.1159/000496777</identifier><identifier>PMID: 30739115</identifier><language>eng</language><publisher>Basel, Switzerland: S. Karger AG</publisher><subject>46, XX Disorders of Sex Development - blood ; 46, XX Disorders of Sex Development - genetics ; Adolescent ; Analysis ; Child ; Child, Preschool ; Development ; Diagnosis ; Follow-Up Studies ; Gene mutations ; Genetic aspects ; Heterozygote ; Humans ; Infant ; Infants ; Male ; Mutation - genetics ; Original Article ; Puberty ; Puberty - genetics ; Sex-Determining Region Y Protein - metabolism ; Steroidogenic Factor 1 - genetics ; Testis - growth & development ; Testis - pathology ; Testosterone - blood ; XX male syndrome</subject><ispartof>Sexual development, 2019-06, Vol.13 (2), p.60-66</ispartof><rights>2019 S. Karger AG, Basel</rights><rights>2019 S. Karger AG, Basel.</rights><rights>COPYRIGHT 2019 S. Karger AG</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c407t-d6ca1d26df288258c79b6f4272f68419bc45651bc7ad50a9401e38add66650f33</citedby><cites>FETCH-LOGICAL-c407t-d6ca1d26df288258c79b6f4272f68419bc45651bc7ad50a9401e38add66650f33</cites><orcidid>0000-0001-9971-4035</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,2423,27901,27902</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30739115$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Saito-Hakoda, Akiko</creatorcontrib><creatorcontrib>Kanno, Junko</creatorcontrib><creatorcontrib>Suzuki, Dai</creatorcontrib><creatorcontrib>Kawashima, Sayaka</creatorcontrib><creatorcontrib>Kamimura, Miki</creatorcontrib><creatorcontrib>Hirano, Koji</creatorcontrib><creatorcontrib>Sakai, Kiyohide</creatorcontrib><creatorcontrib>Igarashi, Maki</creatorcontrib><creatorcontrib>Fukami, Maki</creatorcontrib><creatorcontrib>Fujiwara, Ikuma</creatorcontrib><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</title><title>Sexual development</title><addtitle>Sex Dev</addtitle><description>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.</description><subject>46, XX Disorders of Sex Development - blood</subject><subject>46, XX Disorders of Sex Development - genetics</subject><subject>Adolescent</subject><subject>Analysis</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Development</subject><subject>Diagnosis</subject><subject>Follow-Up Studies</subject><subject>Gene mutations</subject><subject>Genetic aspects</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Infant</subject><subject>Infants</subject><subject>Male</subject><subject>Mutation - genetics</subject><subject>Original Article</subject><subject>Puberty</subject><subject>Puberty - genetics</subject><subject>Sex-Determining Region Y Protein - metabolism</subject><subject>Steroidogenic Factor 1 - genetics</subject><subject>Testis - growth & development</subject><subject>Testis - pathology</subject><subject>Testosterone - blood</subject><subject>XX male syndrome</subject><issn>1661-5425</issn><issn>1661-5433</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpt0kFv0zAUB_AIgdgYHLgjZIkLSKTYTmInx6hjULQN1HbSOEWO8xzMkjjYzrZ-GL4rrloqTZp8sGX9_s961oui1wTPCMmKTxjjtGCc8yfRMWGMxFmaJE8PZ5odRS-c-40xw5Rmz6OjBPOkCNHj6G-JzkzXmbv4akTKmh4tBiUGuUHeoB9TDdZvkB6QQN_EKAZwgC5EB-hO-19otfwZX0IrvL4FlLKP19doDc5rOXXColPtjG3AIqPQCu7RKdxCZ8YeBo_mwtqNHtpQd5yVti3o2o7oYvKhlhm2D14us5K8jJ4p0Tl4td9Poquzz-v51_j8-5fFvDyPZYq5jxsmBWkoaxTNc5rlkhc1UynlVLE8JUUt04xlpJZcNBkWRYoJJLloGsZYhlWSnETvd3VHa_5MoYWq105C14WOzeQqSjHmOS8KHui7HW3DN1R6UMZbIbe8KhnlCc45zoOaPaLCaqDX0gygdLh_EPjwIBCMh3vfism5arFaPmqlNc5ZUNVodS_spiK42g5EdRiIYN_uO5vqHpqD_D8BAbzZgRthW7AHsM__A8RTtN4</recordid><startdate>20190601</startdate><enddate>20190601</enddate><creator>Saito-Hakoda, Akiko</creator><creator>Kanno, Junko</creator><creator>Suzuki, Dai</creator><creator>Kawashima, Sayaka</creator><creator>Kamimura, Miki</creator><creator>Hirano, Koji</creator><creator>Sakai, Kiyohide</creator><creator>Igarashi, Maki</creator><creator>Fukami, Maki</creator><creator>Fujiwara, Ikuma</creator><general>S. Karger AG</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>ISR</scope><scope>7X8</scope><orcidid>https://orcid.org/0000-0001-9971-4035</orcidid></search><sort><creationdate>20190601</creationdate><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</title><author>Saito-Hakoda, Akiko ; Kanno, Junko ; Suzuki, Dai ; Kawashima, Sayaka ; Kamimura, Miki ; Hirano, Koji ; Sakai, Kiyohide ; Igarashi, Maki ; Fukami, Maki ; Fujiwara, Ikuma</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c407t-d6ca1d26df288258c79b6f4272f68419bc45651bc7ad50a9401e38add66650f33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>46, XX Disorders of Sex Development - blood</topic><topic>46, XX Disorders of Sex Development - genetics</topic><topic>Adolescent</topic><topic>Analysis</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Development</topic><topic>Diagnosis</topic><topic>Follow-Up Studies</topic><topic>Gene mutations</topic><topic>Genetic aspects</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Infant</topic><topic>Infants</topic><topic>Male</topic><topic>Mutation - genetics</topic><topic>Original Article</topic><topic>Puberty</topic><topic>Puberty - genetics</topic><topic>Sex-Determining Region Y Protein - metabolism</topic><topic>Steroidogenic Factor 1 - genetics</topic><topic>Testis - growth & development</topic><topic>Testis - pathology</topic><topic>Testosterone - blood</topic><topic>XX male syndrome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Saito-Hakoda, Akiko</creatorcontrib><creatorcontrib>Kanno, Junko</creatorcontrib><creatorcontrib>Suzuki, Dai</creatorcontrib><creatorcontrib>Kawashima, Sayaka</creatorcontrib><creatorcontrib>Kamimura, Miki</creatorcontrib><creatorcontrib>Hirano, Koji</creatorcontrib><creatorcontrib>Sakai, Kiyohide</creatorcontrib><creatorcontrib>Igarashi, Maki</creatorcontrib><creatorcontrib>Fukami, Maki</creatorcontrib><creatorcontrib>Fujiwara, Ikuma</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Science</collection><collection>MEDLINE - Academic</collection><jtitle>Sexual development</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Saito-Hakoda, Akiko</au><au>Kanno, Junko</au><au>Suzuki, Dai</au><au>Kawashima, Sayaka</au><au>Kamimura, Miki</au><au>Hirano, Koji</au><au>Sakai, Kiyohide</au><au>Igarashi, Maki</au><au>Fukami, Maki</au><au>Fujiwara, Ikuma</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>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</atitle><jtitle>Sexual development</jtitle><addtitle>Sex Dev</addtitle><date>2019-06-01</date><risdate>2019</risdate><volume>13</volume><issue>2</issue><spage>60</spage><epage>66</epage><pages>60-66</pages><issn>1661-5425</issn><eissn>1661-5433</eissn><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.</abstract><cop>Basel, Switzerland</cop><pub>S. Karger AG</pub><pmid>30739115</pmid><doi>10.1159/000496777</doi><tpages>7</tpages><orcidid>https://orcid.org/0000-0001-9971-4035</orcidid></addata></record> |
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| source | Karger电子期刊和电子书数据库; MEDLINE; Alma/SFX Local Collection |
| subjects | 46, XX Disorders of Sex Development - blood 46, XX Disorders of Sex Development - genetics Adolescent Analysis Child Child, Preschool Development Diagnosis Follow-Up Studies Gene mutations Genetic aspects Heterozygote Humans Infant Infants Male Mutation - genetics Original Article Puberty Puberty - genetics Sex-Determining Region Y Protein - metabolism Steroidogenic Factor 1 - genetics Testis - growth & development Testis - pathology Testosterone - blood XX male syndrome |
| 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 |
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