Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study
Authors' conclusion
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.
Study context
- Population
- Patients with difference of sex development (DSD) or primary ovarian insufficiency and asymptomatic carriers from 18 families, harboring 14 different NR5A1 variants18 families
- Exposure
- Individuals with NR5A1 variants vs healthy controls and asplenic patients
- Patientsn = 22
- Asymptomatic carriersn = 5
- Outcome
- Spleen anatomy (US) and function (blood cell count, WBC differentiation, % nonswitched memory B cells, pneumococcal antibody response, % pitted RBCs, Howell-Jolly bodies)
Main finding
As reported in the abstract
Thrombocytosis and spleen hypoplasia in heterozygous individuals
50%
Asplenia in individuals homozygous for p.(Arg103Gln)
4 of 5
Observational data: associations, not effects.
Original publication
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