IDSD2026 Poster Abstracts Poster Abstracts (93 abstracts)
From clinical misdiagnosis to molecular diagnosis: the power of next-generation sequencing in 46,XY DSD
Asma Tajouri 1 , Abir Jebali 1 , Mohamed Nasreddine Rajoua 1,2 , Ons Azaiez 3 , Ridha M’rad 1,4 , Mediha Trabelsi 1,4 & Maher Kharrat 1,3
1Human Genetics Laboratory LR99ES10, Faculty of Medicine of Tunis, University of Tunis El Manar. Tunis, Tunisia; 2Laboratoire de génomique, Fondation Jean Dausset – CEPH (Centre d’étude du polymorphisme humain), 75010 Paris, France; 3Research platform in “science and technology” of Medicine, Faculty of Medicine of Tunis, University of Tunis El Manar, Tunis, Tunisia; 4Department of Congenital and Hereditary diseases, Charles Nicolle hospital of Tunis, Tunisia. Correspondence to: [email protected]
Background: Disorders of Sex Development or DSD are congenital abnormalities characterized by a discordance between genetic, gonadal and phenotypic sex. Phenotypes range from moderate malformations of the external genitalia or sexual ambiguities to complete sex reversal. Accurate molecular diagnosis through Next Generation Sequencing (NGS) and Whole Exome Sequencing (WES) contributes to better personalized patient management. The aim of this study was to establish a molecular diagnosis in 3 Tunisian patients with 46,XY DSD using the WES technique.
Methods: WES, using Novaseq 6000 technology, was conducted in 3 Tunisian patients with 46,XY DSD : gonadal dysgenesis in 2 patients and androgen insensitivity in the 3rd patient.
Results: The performed NGS demonstrated that the patients of our study were clinically misdiagnosed. In fact, the WES results allowed us to identify 2 hemizygous AR novel variations in 2 gonadal dysgenesis patients and a novel homozygous DHH variant in androgen insensitivity syndrome patient. In essence, next generation sequencing allowed the revision of the clinical diagnosis in these 46,XY DSD patients.
Conclusions: In conclusion, 46,XY DSD is a complicated polygenic disease hence the interest of the NGS that allows to establish an accurate molecular diagnosis regardless of the severity of the disease and reassessment of the clinical diagnosis
Volume 118
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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