title: A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency.
abstract: Steroidogenic factor-1 (SF-1), also known as nuclear receptor subfamily 5 group A member 1 (NR5A1), is a member of orphan receptor subfamily and located on chromosome 9 (9q33). In 46, XY individuals with mutation of SF-1 gene, adrenal failure, testis dysgenesis, androgen synthesis defects, hypospadias and anorchia with microphallus, infertility can occur from severe to mild. We report a case of a 20-day-old male who is admitted to our clinic due to ambiguous genitalia. In this report, we describe a novel heterozygous c.814A > C (p. T272P) NR5A1 mutation in a patient with 46, XY DSD without adrenal insufficiency. We describe a novel missense mutation c.814A > C (p. T272P) in NR5A1 gene which had not previously been reported. Also this report highlights that the potential diagnostic utility of next-generation sequencing is an effective strategy versus Sanger sequencing to identify genetic mosaicism in clinical practice.
authors.affiliation: Department of Pediatric Endocrinology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.
authors.forename: H
authors.initials: H
authors.lastname: Tuhan
authors.affiliation: Department of Pediatric Endocrinology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Anik
authors.affiliation: Department of Pediatric Endocrinology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.
authors.forename: G
authors.initials: G
authors.lastname: Catli
authors.affiliation: Department of Medical Genetics, School of Medicine, Ege University, Izmir, Turkey.
authors.forename: H
authors.initials: H
authors.lastname: Onay
authors.affiliation: Department of Medical Genetics, School of Medicine, Ege University, Izmir, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Aykut
authors.affiliation: Department of Pediatric Endocrinology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.
authors.forename: A
authors.initials: A
authors.lastname: Abaci
authors.affiliation: Department of Pediatric Endocrinology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.
authors.forename: E
authors.initials: E
authors.lastname: Bober
mesh_terms: D000309:Adrenal Insufficiency / Q000235:genetics; D058490:Disorder of Sex Development, 46,XY / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D000072260:RNA Splicing Factors / Q000235:genetics*
chemical_list: D000072260:RNA Splicing Factors; C107467:SF1 protein, human
keywords: Ambiguous genitalia; disorders of sex development; steroidogenic factor-1