Article
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
European journal of endocrinology - 3 Jan 2024
Cools Martine, Grijp Celien, Neirinck Jana, Tavernier Simon J, Schelstraete Petra, Van De Velde Julie, Morbée Lieve, De Baere Elfride, Bonroy Carolien, van Bever Yolande, Bruggenwirth Hennie, Vermont Clementien, Hannema Sabine E, De Rijke Yolanda, Abdulhadi-Atwan Maha, Zangen David, Verdin Hannah, Haerynck Filomeen
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.