Heterozygous variant in NR5A1 gene as a monogenic form of gonadal dysgenesis: a case report

NR5A1 gene mutations are associated principally to 46,XY DSD (Disorders of Sex Development), with an extensive range of phenotypic variability in patients, comprising gonadal dysgenesis and male infertility. NR5A1 gene plays a crucial role in reproduction, steroidogenesis, and sexual differentiation. The present case describes an Italian male adolescent with ambiguous genitalia at birth and a 46,XY karyotype who was investigated for DSD genetic panel conditions due to slow pubertal progression. A heterozygous variant in NR5A1 (NM_004959.4: c.937C>T, p.Arg313Cys) was identified in this patient and in his father. The same variant was previously described in other studies showing the wide heterogeneity of genotype-phenotype correlation in DSD patients.