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Abstract

April - June 2021 | Vol. 14 | Issue 2 | 02-04
NR5A1-related Disorders: Case Report, Review of Phenotypes and Issues in Genetic Counseling
Aashita Takkar, Dhanya Lakshmi Narayanan, Anju Shukla
Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India
Address for Correspondence Email: anju.shukla@manipal.edu
 
Abstract
Nuclear Receptor Subfamily 5 Group A Member 1 (NR5A1) encoded steroidogenic factor-1 (SF-1) regulates transcription of genes involved in steroidogenesis, sexual development and reproduction. SF-1 protein is expressed in the bipotential gonad and later in developing ovaries, testes and adrenal cortex. Pathogenic variants in NR5A1 are known to be associated with a wide spectrum of disorders of sex development. Individuals with a variant in NR5A1 can present with either 46,XX sex reversal 4 (MIM# 617480), 46,XY sex reversal 3 (MIM# 612965), adrenocortical insufficiency (MIM#612964), premature ovarian failure 7 (MIM#612964) or spermatogenic failure 8 (MIM#613957). We hereby report a 7-months-old infant with ambiguous genitalia and a known variant, c.251G>A p. (Arg84His) in NR5A1 in heterozygous state inherited from his mother. We also review the phenotypes and genetic counseling issues pertaining to these disorders.
 
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