Causes of differences of sex development – Official reprint from UpToDate (2025) Yee-Ming Chan, MD, PhD

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Ebook Info

  • Published: 2025
  • Format: PDF
  • File Size: 3.76 MB
  • Authors: Yee-Ming Chan, MD, PhD

Description

This topic review details the causes of Differences of Sex Development (DSD) in infants, defined as atypical genital appearance or discordance with chromosomal sex. It covers terminology, epidemiology (approx. 1 in 1000 to 4500 live births), and specific causes categorized by karyotype (XX and XY), including Congenital Adrenal Hyperplasia (CAH), Sex Chromosome DSD, and Androgen Insensitivity Syndrome (AIS).

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