• PMID: 27135758
• Gene Name: NR5A1
• Condition: 46 XY DSD without adrenal insufficiency
• Association: This study describes a novel heterozygous c.814A > C (p. T272P) NR5A1 mutation in a patient with 46, XY DSD without adrenal insufficiency.
• Mutation: c.814A > C (p. T272P)
• Population size: 1
• Population details: 1 DSD
• Age: 20 day old male
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: 46 XY DSD without adrenal insufficiency

A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency

Tuhan H, Anik A, Catli G, Onay H, Aykut A, Abaci A, Bober E.

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. CI - © 2016 Blackwell Verlag GmbH. FAU - Tuhan, H AU - Tuhan H AD - Department of Pediatric Endocrinology, School of Medicine, Dokuz Eylul University, Izmir, Turkey. FAU - Anik, A AU - Anik A AD - Department of Pediatric Endocrinology, School of Medicine, Dokuz Eylul University, Izmir, Turkey. FAU - Catli, G AU - Catli G AD - Department of Pediatric Endocrinology, School of Medicine, Dokuz Eylul University, Izmir, Turkey. FAU - Onay, H AU - Onay H AD - Department of Medical Genetics, School of Medicine, Ege University, Izmir, Turkey. FAU - Aykut, A AU - Aykut A AD - Department of Medical Genetics, School of Medicine, Ege University, Izmir, Turkey. FAU - Abaci, A AU - Abaci A AD - Department of Pediatric Endocrinology, School of Medicine, Dokuz Eylul University, Izmir, Turkey.