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Splenic structural and functional abnormalities in individuals with NR5A1/SF-1 variants.

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Summary
This summary is machine-generated.

Steroidogenic factor 1 (SF-1) gene variants are common in patients with hyposplenism, a condition affecting spleen function. Early assessment and preventive measures are crucial for managing these patients.

Keywords:
SF-1/NR5A1asplenismdisorders of sex development (DSD)hyposplenismspleen development

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Area of Science:

  • Genetics and Molecular Biology
  • Hematology
  • Pediatric Endocrinology

Background:

  • Steroidogenic factor 1 (SF-1), encoded by NR5A1, plays a critical role in spleen development and function.
  • Variants in the NR5A1 gene are associated with abnormal spleen development, leading to hyposplenism.
  • Hyposplenism increases susceptibility to severe infections and complications.

Purpose of the Study:

  • To determine the prevalence of hyposplenism in French patients with NR5A1 variants.
  • To characterize the principal features of hyposplenism in this cohort.
  • To investigate the relationship between NR5A1 variants and splenic anomalies.

Main Methods:

  • A cross-sectional, multicenter study was conducted on 34 patients with heterozygous NR5A1 variants.
  • Participants underwent splenic imaging (ultrasound, CT, or MRI).
  • Pocked red blood cell (pRBC) quantification was used to assess splenic function: <7% (normal), 7-20% (moderate hyposplenism), >20% (severe hyposplenism).

Main Results:

  • Functional hyposplenism was observed in 61.7% of patients (21/34), with 47% (16/34) having severe forms.
  • Morphological spleen abnormalities were present in 44.1% (15/34), including asplenia in 11.7% (4/34).
  • All patients with morphological abnormalities had functional hyposplenism, but 28% with functional hyposplenism had normal spleen morphology.

Conclusions:

  • Functional hyposplenism is frequent in patients with NR5A1 variants, irrespective of genotype or gonadal phenotype.
  • Assessing splenic function is essential for patient management.
  • Preventive measures are critical for patients diagnosed with hyposplenism.