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hrp0097p1-169 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

RXFP2: validating its role in autosomal recessive bilateral cryptorchidism and a novel association with male infertility

Syryn Hannes , Verdin Hannah , Van de Velde Julie , Peelman Frank , Becker Marianne , Brachet Cécile , den Brinker Marieke , Depoorter Sylvia , Fudvoye Julie , Klink Daniel , Lysy Philippe , Massa Guy , Reynaert Nele , Rochtus Anne , Staels Willem , Van Loocke Marlies , Sinclair Andrew , Ayers Katie , Bathgate Ross , Cools Martine , De Baere Elfride

Background/Aims: Cryptorchidism or undescended testis is a prevalent congenital urogenital condition affecting male newborns with an incidence rate ranging from 1.0 to 4.6%. Mouse models have implicated INSL3 and its receptor RXFP2 (formerly known as GREAT or LGR8) in the development of the condition. RXFP2 acts as a G protein-coupled receptor that triggers the generation of cAMP by binding INSL3. But despite the established role in testicular descent, so far ...

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hrp0097p1-365 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Etiology, histology and long-term outcome of bilateral testicular regression: a large Belgian series

Tack Lloyd , Brachet Cécile , Beauloye Veronique , Heinrichs Claudine , Boros Emese , De Waele Kathleen , van der Straaten Saskia , Van Aken Sara , Craen Margarita , Lemay Annelies , Rochtus Anne , Casteels Kristina , Beckers Dominique , Mouraux Thierry , Logghe Karl , Van Loocke Marlies , Massa Guy , Van de Vijver Koen , Syryn Hannes , Van De Velde Julie , De Baere Elfride , Verdin Hannah , Cools Martine

Background: Long-term outcome studies on bilateral testicular regression (BTR) are currently lacking, hampering counseling of patients and parents. Although a vascular origin was initially reported, recent studies revealed a genetic origin in a subset of patients (i.e. DHX37 gene variants). How this relates to patient outcomes remains unclear.Methods: Thirty-five patients with BTR were recruited in eight Belgian centers ...

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ESPE Abstracts

RXFP2: validating its role in autosomal recessive bilateral cryptorchidism and a novel association with male infertility

Etiology, histology and long-term outcome of bilateral testicular regression: a large Belgian series

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