Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.

Elfride De BaereCelien GrijpJana NeirinckSimon J TavernierPetra SchelstraeteJulie Van De VeldeLieve MorbéeElfride De BaereCarolien BonroyYolande van BeverHennie BruggenwirthClementien VermontSabine E HannemaYolanda De RijkeMaha Abdulhadi-AtwanDavid ZangenHannah VerdinFilomeen Haerynck

Published in: European journal of endocrinology (2024)

Individuals harboring a heterozygous NR5A1 variant that may cause DSD have a considerable risk for functional hyposplenism, irrespective of their gonadal phenotype. Splenic function should be assessed in these individuals, and if affected or unknown, prophylaxis is recommended to prevent invasive encapsulated bacterial infections. The splenic phenotype associated with NR5A1 variants is more severe in homozygous individuals and is, at least for the p.(Arg103Gln) variant, associated with asplenism.

Keyphrases

early onset
copy number
physical activity
risk factors
dna methylation
genome wide