Martine Cools, Celien Grijp, Jana Neirinck, Simon J Tavernier, Petra Schelstraete, Julie Van De Velde, Lieve Morbée, Elfride De Baere, Carolien Bonroy, Yolande van Bever, Hennie Bruggenwirth, Clementien Vermont, Sabine E Hannema, Yolanda De Rijke, Maha Abdulhadi-Atwan, David Zangen, Hannah Verdin, Filomeen Haerynck
OBJECTIVE: NR5A1 is a key regulator of sex differentiation and has been implicated in spleen development through transcription activation of TLX1. Concerns exist about hypo- or asplenism in individuals who have a difference of sex development (DSD) due to an NR5A1 disease-causing variant. We aimed to assess spleen anatomy and function in a clinical cohort of such individuals, and in their asymptomatic family member carriers. DESIGN: Cross-sectional assessment in 22 patients with a DSD or primary ovarian insufficiency and five asymptomatic carriers from 18 families, harboring 14 different NR5A1 variants...
December 21, 2023: European Journal of Endocrinology