The Disorders of Sex Development (DSD) Center at Cincinnati Children’s provides care for all ages, from counseling before birth to treatment through adulthood.  Our goal is to meet the needs of our patients and families as partners of the healthcare team. 

There are many different types of disorders of sex development (DSD).  Some of these are rare, but some are more common than people might think.  These conditions can affect anyone, including babies, children and adults.  At Cincinnati Children’s we treat a broad range of conditions that involve abnormalities of sex chromosomes, sex glands and hormones, and genital appearance.  Examples are listed below:

Sex Chromosomes

  • Mixed gonadal dysgenesis
  • Sex chromosome mosaicism
  • Disorders resulting from abnormal number or appearance of X and Y sex chromosomes, including Klinefelter syndrome 

Sex Glands and Sex Hormones

  • Gonadal dysgenesis (complete or partial)
  • Gonadal regression syndrome (“vanishing testes”)
  • Ovotesticular DSD
  • Congenital adrenal hyperplasia
  • Disorders resulting from inability to make male sex hormones (e.g., testosterone), including 5α-reductase deficiency
  • Androgen insensitivity (complete or partial, CAIS or PAIS)
  • Disorders of anti-Müllerian hormone (AMH) / persistent Müllerian duct syndrome

Genital Appearance and Other Abnormalities

  • Micropenis
  • Severe hypospadias (penoscrotal hypospadias)
  • Absent vagina / Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH syndrome)
  • Müllerian duct abnormalities, such as MURCS syndrome