Coexistence of SRY, DHX37 and POR gene variants in a patient with 46,XY disorder of sex development

Abstract excerpt

Abstract Objectives Here we present a case of 46,XY disorder of sex development (DSD) in which three variants were detected in the SRY, DHX37, and POR genes. Case presentation A patient with 46,XY karyotype and female phenotype presented at 15 years 3 months of age due to absence of puberty. She exhibited facial signs such as midfacial hypoplasia, long face, proptosis, bulbous nose, mild prognathism and skeletal...

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• Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
• Share to Hormonal and reproductive studies
• Share to Sexual Differentiation and Disorders