ECEESPE2025 ePoster Presentations Reproductive and Developmental Endocrinology (128 abstracts)
A novel de novo mutation of the DHX37 gene in patients with 46,XY DSD
Afaf Alsagheir 1 , Abeer Alabduljabbar 2 , Sara Abid 3 , Dania Farooq 3 , Sara Aljazaeri 3 , Yara Khamag 3 , Raghad Alhuthil 2 & Latifah Alfahad 4
1Section of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; 2Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; 3College of Medicine, Alfaisal University, Riyadh, Saudi Arabia; 4Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
JOINT1815
Introduction: The set of conditions referred to as 46, XY gonadal dysgenesis (GD) is marked by abnormalities in sexual development. As in DHX37, an autosomal gene located on chromosome 1, encodes an RNA helicase that plays a crucial role in essential RNA processes. Mutations in DHX37 are associated with a range of DSD phenotypes, such as atypical genitalia and hormonal disruptions, thus makes it crucial to highlight DHX37 gene importance in sex differentiation and the significance of genetic testing for diagnosing DSD cases.
Objective: To report a novel mutation and to update the literature regarding the manifestation of the case of a De Novo heterozygous variant in DHX37 that causes 46, XY gonadal dysgenesis, which is a rare condition in DSD.
Case Presentation: We report 3 cases in King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia, presented with unusual manifestations and subsequently diagnosed with an uncommon disease. Initially presented with ambiguous genitalia, further karyotyping revealed the presence of a positive SRY gene and a 46XY chromosomal pattern.
Conclusion: A total of 3 cases following in pediatric endocrinology clinic having 46 XY Disorder of Sexual Development (DSD). Consequently, a heterozygous missense variant of DHX37 was discovered using whole exome sequencing which was not reported before in our region. One of the cases had a novel Missense variant and we suggest upgrading the variant classification of DHX37:c.1433G>T p.(Gly478Val) to likely pathogenic, according to the evidence found in our patient.
Keywords: DSD, DHX37 gene, 46XY, ambiguous genitalia, Saudi Arabia.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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