hrp0082p1-d3-99 | Sex Development | ESPE2014

Development of a Next Generation Sequencing Panel for Disorders of Sex Development

Fews Graham A , Hughes Lowri , Bounford Kirsten McKay , Cole Trevor , Krone Nils , Madonald Fiona

Background: Disorders of sex development (DSDs) refer to congenital disorders where the chromosomal, gonadal or anatomical sex is atypical. Patients typically present neonatally with ambiguous genitalia preventing immediate gender assignment or during adolescence where atypical sexual development becomes apparent. Genetic testing is key in establishing a diagnosis, allowing for personalised patient management and may significantly reduce the period of uncertainty for families ...

hrp0089p2-p348 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Revisiting the Diagnosis: Next Generation Sequencing (NGS) Identifies Concurrence of PAIS in a Previously Reported Case of Klinefelter Syndrome (47,XXY) with Hypospadias

Mohamed Zainaba , Allen Stephanie , Bounford Kirsten McKay , Idkowiak Jan , Godber Caroline , Chandran Harish , McCarthy Liam , Cole Trevor , Kirk Jeremy , Krone Nils

Background: Klinefelter syndrome (KFS) is a sex chromosomal disorder characterised by hypogonadism, progressive testicular failure, gynaecomastia and learning difficulties. Genital anomalies are rarely observed in KFS. Androgen insensitivity has been previously postulated, but not proven to cause genital ambiguity in KFS. Androgen receptor (AR) gene defects are reported in AIS, but have not been reported in children with KFS with mild hypospadias. We describe a novel ...