Raúl Villanueva Rodríguez, Alberto Vielma Valdez, Maricruz Cassou Martinez, Laura Leticia Pérez Corrales, Ramón G de Los Santos Aguilar, Luis David Sol Oliva
{"title":"先天性类脂性肾上腺皮质增生症是 46 XY 性分化障碍的一个鲜为人知的病因。","authors":"Raúl Villanueva Rodríguez, Alberto Vielma Valdez, Maricruz Cassou Martinez, Laura Leticia Pérez Corrales, Ramón G de Los Santos Aguilar, Luis David Sol Oliva","doi":"10.1155/2024/5399577","DOIUrl":null,"url":null,"abstract":"<p><strong>Case: </strong>We present the case of a woman who, during the neonatal period, presented salt-losing adrenal insufficiency associated with 46 XY gonadal dysgenesis. The genetic study found a steroidogenic acute regulatory protein (StAR) mutation.</p><p><strong>Conclusion: </strong>Mutations in StAR result in a nonfunctional protein, which clinically translates into congenital adrenal hyperplasia and, in the case of patients with 46 XY karyotype, is accompanied by gonadal dysgenesis characterized by androgen deficiency, without alterations in anti-Müllerian hormone.</p>","PeriodicalId":9621,"journal":{"name":"Case Reports in Endocrinology","volume":null,"pages":null},"PeriodicalIF":0.9000,"publicationDate":"2024-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380710/pdf/","citationCount":"0","resultStr":"{\"title\":\"Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder.\",\"authors\":\"Raúl Villanueva Rodríguez, Alberto Vielma Valdez, Maricruz Cassou Martinez, Laura Leticia Pérez Corrales, Ramón G de Los Santos Aguilar, Luis David Sol Oliva\",\"doi\":\"10.1155/2024/5399577\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Case: </strong>We present the case of a woman who, during the neonatal period, presented salt-losing adrenal insufficiency associated with 46 XY gonadal dysgenesis. The genetic study found a steroidogenic acute regulatory protein (StAR) mutation.</p><p><strong>Conclusion: </strong>Mutations in StAR result in a nonfunctional protein, which clinically translates into congenital adrenal hyperplasia and, in the case of patients with 46 XY karyotype, is accompanied by gonadal dysgenesis characterized by androgen deficiency, without alterations in anti-Müllerian hormone.</p>\",\"PeriodicalId\":9621,\"journal\":{\"name\":\"Case Reports in Endocrinology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.9000,\"publicationDate\":\"2024-08-31\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11380710/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Endocrinology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/2024/5399577\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"ENDOCRINOLOGY & METABOLISM\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Endocrinology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2024/5399577","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"ENDOCRINOLOGY & METABOLISM","Score":null,"Total":0}
Congenital Lipoid Adrenal Hyperplasia, as a Poorly Understood Cause of 46 XY Sexual Differentiation Disorder.
Case: We present the case of a woman who, during the neonatal period, presented salt-losing adrenal insufficiency associated with 46 XY gonadal dysgenesis. The genetic study found a steroidogenic acute regulatory protein (StAR) mutation.
Conclusion: Mutations in StAR result in a nonfunctional protein, which clinically translates into congenital adrenal hyperplasia and, in the case of patients with 46 XY karyotype, is accompanied by gonadal dysgenesis characterized by androgen deficiency, without alterations in anti-Müllerian hormone.