ESPE2024 Poster Category 2 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (24 abstracts)
A Rarely Detected Variant in 46,XX Disorders of Sex Development: Recurrent p.Arg92Trp Variant in NR5A1
Mehmet Ali Oktay 1 , Agah Akın 1 , Esra Döğer 1 , Gülsüm Kayhan 2 , Gizem Eşme Kocaman 1 , Mahmut Orhun Çamurdan 1 & Aysun Bideci 1
1Gazi University Faculty of Medicine Department of Pediatric Endocrinology, Ankara, Turkey. 2Gazi University Faculty of Medicine Department of Genetics, Ankara, Turkey
Introduction: 46,XX testis/ovotesticular (OT) disorders of sex development (DSD) are rare conditions where gonadal differentiation in 46,XX individuals leads towards testicular development. SRY-negative 46,XX OT-DSD is even rarer compared to other DSDs.
Case Presentation: A male patient presented at the age of 3 due to micropenis. Physical examination revealed penile hypospadias and bifid scrotum; phallus length was 2.2 cm, and testes volumes were 1 cc each, bilateral in the scrotum. Karyotype analysis showed 46,XX and SRY negativity. The AMH concentration was 29.72 ng/ml, within the normal ranges for male children (7.4-373.1). A significant increase in testosterone levels was observed in the HCG stimulation test. Testis biopsy could not be performed. Despite the 46,XX karyotype, whole exome sequencing identified an NR5A1 variant (c.274C>T, p.Arg92Trp).
Conclusion: The NR5A1 gene plays a role in activating and suppressing testicular differentiation during gonadal differentiation. Variants in this gene can lead to various DSDs. Recently, the p.Arg92Trp variant has been shown to be involved in 46,XX (ovo)testicular DSD. SRY-independent testicular and ovotesticular DSDs can represent different opposite-sex phenotypes.
Keywords: NR5A1, p.Arg92Trp, 46 XX
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