Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development.

doi:10.1159/000505527

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Article

Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development.

Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Jan 2019

Sudhakar Digumarthi V S, Jaishankar Shveta, Regur Phanindranath, Kumar Umesh, Singh Raghvendra, Kabilan Usha, Namduri Sree, Dhyani Jaishree, Gupta Nalini J, Chakravarthy Baidyanath, Vaman Khadilkar, Shabir Iram, Khadgawat Rajesh, Deenadayal Mamata, Chaitanya A Datar, Dada Rima, Sharma Yogendra, Anand Anuranjan, Thangaraj Kumarasamy

Abstract excerpt

Steroidogenic factor 1 (NR5A1/SF1) is a key transcription factor that is known to regulate the development of adrenal glands and gonads and is also involved in steroidogenesis. Several pathogenic NR5A1 variants have been reported to cause 46,XY disorders of sex development (DSD), with varying clinical phenotypes ranging from hypospadias to complete gonadal dysgenesis. Most often, the primary cause of DSD is due...

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PMID: 32008008
DOI: 10.1159/000505527

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