Endocrine Abstracts

JOINT228

Objective: Steroidogenic Factor 1/Nuclear receptor subfamily 5 group A member 1 (SF-1/NR5A1) is essential for spleen development and function, and NR5A1 variants have been linked to abnormal spleen development. Hyposplenism exposes individuals to severe complications with potential serious sequelae. This study aimed to determine the prevalence and main features of hyposplenim in a cohort of French patients with NR5A1 variants.

Methods: Morphology and function of the spleen were assessed in 34 patients carrying a heterozygous NR5A1 variant. Quantification of pocked-RBCs, the reference marker for splenic function, was performed in all participants along radiological examination.

Results: Functional hyposplenism was observed in 61.7% of patients, with 47% having severe forms. 44.1% of participants had morphological abnormalities of the spleen, including complete absence in 11.7%. All patients with splenic morphological abnormalities on imaging also showed functional hyposplenism. 28% of patients with functional hyposplenism did not have any morphological abnormality on imaging. No association between NR5A1 genotype or gonadal phenotype and splenic anomalies was identified.

Conclusions: Functional hyposplenism is common in patients with NR5A1 variants, regardless of genotype and gonadal phenotype. Hence, assessing splenic function becomes mandatory in managing these patients, and preventive measures are critical when hyposplenism is present.