{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T00:11:40Z","timestamp":1786579900996,"version":"build-2736575974"},"reference-count":17,"publisher":"The Endocrine Society","issue":"7","license":[{"start":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T00:00:00Z","timestamp":1780963200000},"content-version":"vor","delay-in-days":20,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"FAPESP","doi-asserted-by":"publisher","award":["2019\/26780-9"],"award-info":[{"award-number":["2019\/26780-9"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"FAPESP","doi-asserted-by":"publisher","award":["2024\/23694-2"],"award-info":[{"award-number":["2024\/23694-2"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001807","name":"FAPESP","doi-asserted-by":"publisher","award":["2025\/07534-8"],"award-info":[{"award-number":["2025\/07534-8"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"CnPQ","doi-asserted-by":"publisher","award":["307571\/2021-1"],"award-info":[{"award-number":["307571\/2021-1"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,5,20]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>The luteinizing hormone\/choriogonadotropin receptor (LHCGR) is essential for Leydig cell function, gonadal steroidogenesis, and male sexual differentiation. Loss-of-function variants in LHCGR are a rare cause of 46,XY differences of sex development (DSD). We report 2 46,XY adult sisters born to consanguineous parents, who presented with primary amenorrhea and absent secondary sexual characteristics. Both exhibited tall stature, female external genitalia, hypergonadotropic hypogonadism with very low testosterone levels. Imaging revealed bilateral cryptorchid testes and absence of M\u00fcllerian structures. Both sisters underwent bilateral gonadectomy, and histopathological findings provide strong morphological support for Leydig cell hypoplasia. Genetic testing identified a novel homozygous splice-site variant (c.384-2A&amp;gt;G) in LHCGR, predicted to cause aberrant splicing and a loss of receptor function. These findings expand the mutational spectrum of LHCGR-related DSD, a rare cause of 46,XY DSD.<\/jats:p>","DOI":"10.1210\/jcemcr\/luag155","type":"journal-article","created":{"date-parts":[[2026,5,30]],"date-time":"2026-05-30T11:44:20Z","timestamp":1780141460000},"source":"Crossref","is-referenced-by-count":1,"title":["Two adult 46,XY sisters with female-like phenotype due to a novel homozygous\n                    <i>LHCGR<\/i>\n                    splice-site variant"],"prefix":"10.1210","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1404-0030","authenticated-orcid":false,"given":"Marcela G","family":"Meirelles","sequence":"first","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM\/42, Laborat\u00f3rio SELA, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (HC-FMUSP) , S\u00e3o Paulo 05403-000 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata C","family":"Scalco","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM\/42, Laborat\u00f3rio SELA, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (HC-FMUSP) , S\u00e3o Paulo 05403-000 ,","place":["Brazil"]},{"name":"Unidade de Endocrinologia Gen\u00e9tica (LIM\/25), Disciplina de Endocrinologia, Departamento de Cl\u00ednica M\u00e9dica, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (HC-FMUSP) , S\u00e3o Paulo 01246-903 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana M","family":"Marques","sequence":"additional","affiliation":[{"name":"Unidade de Endocrinologia do Desenvolvimento, Laborat\u00f3rio de Horm\u00f4nios e Gen\u00e9tica Molecular LIM\/42, Laborat\u00f3rio SELA, Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo (HC-FMUSP) , S\u00e3o Paulo 05403-000 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9","family":"Lima Junior","sequence":"additional","affiliation":[{"name":"Divis\u00e3o de Endocrinologia, Departamento de Cl\u00ednica M\u00e9dica, Faculdade de Ci\u00eancias M\u00e9dicas, Irmandade da Santa Casa de Miseric\u00f3rdia de S\u00e3o Paulo , S\u00e3o Paulo 01221-020 ,","place":["Brazil"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina F","family":"Bueno","sequence":"additional","affiliation":[{"name":"Divis\u00e3o de Endocrinologia, Departamento de Cl\u00ednica M\u00e9dica, Faculdade de Ci\u00eancias M\u00e9dicas, Irmandade da Santa Casa de Miseric\u00f3rdia de S\u00e3o Paulo , S\u00e3o Paulo 01221-020 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