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Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing.

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Title: Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing.
Authors: Błaszczyk E; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland. ewa.blaszczyk@sum.edu.pl., Więcek M; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Jazela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland., Kudela G; Department of Pediatric Surgery and Urology, Medical University of Silesia, Katowice, Poland., Koszutski T; Department of Pediatric Surgery and Urology, Medical University of Silesia, Katowice, Poland., Kowalczyk K; Chair and Department of Gynecology, Obstetrics and Oncological Gynecology, Medical University of Silesia, Katowice, Poland., Sikora J; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Wiernik A; Department of Pediatric Surgery and Urology, Medical University of Silesia, Katowice, Poland., Żarczyńska M; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Kempińska W; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland., Bielska-Brodziak A; Faculty of Law and Administration, University of Silesia, Katowice, Poland., Gawlik-Starzyk A; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland. agawlik@mp.pl.
Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Jun 27; Vol. 21 (1). Date of Electronic Publication: 2026 Jun 27.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE
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  Data: Refining the diagnosis of 46,XY disorders of sex development: insight from whole-exome sequencing.
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  Data: <searchLink fieldCode="AU" term="%22Błaszczyk+E%22">Błaszczyk E</searchLink>; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland. ewa.blaszczyk@sum.edu.pl.<br /><searchLink fieldCode="AU" term="%22Więcek+M%22">Więcek M</searchLink>; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.<br /><searchLink fieldCode="AU" term="%22Jazela-Stanek+A%22">Jazela-Stanek A</searchLink>; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.<br /><searchLink fieldCode="AU" term="%22Kudela+G%22">Kudela G</searchLink>; Department of Pediatric Surgery and Urology, Medical University of Silesia, Katowice, Poland.<br /><searchLink fieldCode="AU" term="%22Koszutski+T%22">Koszutski T</searchLink>; Department of Pediatric Surgery and Urology, Medical University of Silesia, Katowice, Poland.<br /><searchLink fieldCode="AU" term="%22Kowalczyk+K%22">Kowalczyk K</searchLink>; Chair and Department of Gynecology, Obstetrics and Oncological Gynecology, Medical University of Silesia, Katowice, Poland.<br /><searchLink fieldCode="AU" term="%22Sikora+J%22">Sikora J</searchLink>; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.<br /><searchLink fieldCode="AU" term="%22Wiernik+A%22">Wiernik A</searchLink>; Department of Pediatric Surgery and Urology, Medical University of Silesia, Katowice, Poland.<br /><searchLink fieldCode="AU" term="%22Żarczyńska+M%22">Żarczyńska M</searchLink>; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.<br /><searchLink fieldCode="AU" term="%22Kempińska+W%22">Kempińska W</searchLink>; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.<br /><searchLink fieldCode="AU" term="%22Bielska-Brodziak+A%22">Bielska-Brodziak A</searchLink>; Faculty of Law and Administration, University of Silesia, Katowice, Poland.<br /><searchLink fieldCode="AU" term="%22Gawlik-Starzyk+A%22">Gawlik-Starzyk A</searchLink>; Departments of Pediatrics and Pediatric Endocrinology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland. agawlik@mp.pl.
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  Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2026 Jun 27; Vol. 21 (1). <i>Date of Electronic Publication: </i>2026 Jun 27.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE
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              Text: 2026 Jun 27
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