Clinical, Hormonal, and Genetic Spectrum of 46 XY Disorders of Sexual Development (DSD) Patients.

Rajan Palui Lavanya Ravichandran Sadish Kumar Kamalanathan Aaron Chapla Jaya Prakash Sahoo Niya Narayanan Dukhabandhu Naik Nihal Thomas

Published in: Indian journal of pediatrics (2024)

In the present study, a positive genetic diagnosis was detected in nine patients (24%), including five novel variants. In this study, mutations in the AR gene was the most reported. The authors did not find the testosterone: dihydrotestosterone (T: DHT) ratio to be an accurate hormonal diagnostic tool.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
copy number
mental health
gene expression
metabolic syndrome
patient reported outcomes
adipose tissue
transcription factor
mass spectrometry
polycystic ovary syndrome