Rossana Santiago de Sousa Azulay, Alexandre Nogueira Facundo, Sarah Sousa E Sousa, Gilvan Cortes Nascimento, Marcelo Magalhães, Clariano Pires de Oliveira Neto, Joana D'arc Matos França de Abreu, Débora Cristina Ferreira Lago, Sabrina da Silva Pereira Damianse, Viviane Chaves de Carvalho, Caio Andrade Nascimento, Vandilson Pinheiro Rodrigues, Fernanda Borchers Coeli-Lacchini, Margaret de Castro, Manuel Dos Santos Faria
{"title":"Unique Case Report: A Rare Association of 21-Hydroxylase Deficiency with Triple X Karyotype.","authors":"Rossana Santiago de Sousa Azulay, Alexandre Nogueira Facundo, Sarah Sousa E Sousa, Gilvan Cortes Nascimento, Marcelo Magalhães, Clariano Pires de Oliveira Neto, Joana D'arc Matos França de Abreu, Débora Cristina Ferreira Lago, Sabrina da Silva Pereira Damianse, Viviane Chaves de Carvalho, Caio Andrade Nascimento, Vandilson Pinheiro Rodrigues, Fernanda Borchers Coeli-Lacchini, Margaret de Castro, Manuel Dos Santos Faria","doi":"10.3390/genes16030354","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background</b>: Congenital adrenal hyperplasia (CAH) represents a group of autosomal recessive disorders characterized by impaired cortisol synthesis in the adrenal glands. Over 90% of CAH cases result from a deficiency of the enzyme 21-hydroxylase (21OHD). The clinical spectrum of 21OHD ranges from the severe, life-threatening salt-wasting classic form, often presenting with prenatal virilization in females, to the non-classic (milder) form, which lacks glucocorticoid deficiency. Females with the non-classic form may experience symptoms of hyperandrogenism or infertility later in life, while males with non-classic CAH are often undiagnosed due to the subtler presentation. The coexistence of genetic anomalies and CAH is rarely reported in the literature, particularly in cases involving Triple X syndrome-a condition typically associated with a mild and frequently underdiagnosed clinical course. <b>Case presentation</b>: Here, we present a unique case of a 38-year-old woman with a history of premature ovarian failure and subsequent clinical features of hyperandrogenism. Further investigation revealed a novel association between partial 21OHD and a Triple X karyotype-an association not previously documented in the literature. <b>Conclusions</b>: This case highlights the potential for coexisting rare genetic conditions and underscores the critical importance of thorough and meticulous clinical evaluation.</p>","PeriodicalId":12688,"journal":{"name":"Genes","volume":"16 3","pages":""},"PeriodicalIF":2.8000,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11942218/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genes","FirstCategoryId":"99","ListUrlMain":"https://doi.org/10.3390/genes16030354","RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Background: Congenital adrenal hyperplasia (CAH) represents a group of autosomal recessive disorders characterized by impaired cortisol synthesis in the adrenal glands. Over 90% of CAH cases result from a deficiency of the enzyme 21-hydroxylase (21OHD). The clinical spectrum of 21OHD ranges from the severe, life-threatening salt-wasting classic form, often presenting with prenatal virilization in females, to the non-classic (milder) form, which lacks glucocorticoid deficiency. Females with the non-classic form may experience symptoms of hyperandrogenism or infertility later in life, while males with non-classic CAH are often undiagnosed due to the subtler presentation. The coexistence of genetic anomalies and CAH is rarely reported in the literature, particularly in cases involving Triple X syndrome-a condition typically associated with a mild and frequently underdiagnosed clinical course. Case presentation: Here, we present a unique case of a 38-year-old woman with a history of premature ovarian failure and subsequent clinical features of hyperandrogenism. Further investigation revealed a novel association between partial 21OHD and a Triple X karyotype-an association not previously documented in the literature. Conclusions: This case highlights the potential for coexisting rare genetic conditions and underscores the critical importance of thorough and meticulous clinical evaluation.
期刊介绍:
Genes (ISSN 2073-4425) is an international, peer-reviewed open access journal which provides an advanced forum for studies related to genes, genetics and genomics. It publishes reviews, research articles, communications and technical notes. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.