Short report: SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated-patient's management

Abstract

Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies was recently highlighted. We provide new evidence of this involvement, describing a novel heterozygous nonsense NR5A1 mutation in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia.

We provide new evidence of steroidogenic factor 1 (encoded by SF1/NR5A1) in spleen development, describing a novel heterozygous nonsense NR5A1 mutation (c.1227C > A; p.Tyr409*) in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia. We then recommend that any NR5A1 mutated patient be explored for spleen anatomy and function (ultrasound examination of the spleen and search for Howell-Jolly bodies in blood).

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