Differences of sex development (DSD) are conditions that people are born with and that affect how the reproductive system or genitals develop. There are many different conditions that are included in the group of DSD conditions. Some of these are rare, but some are more common than people might think. These conditions can be diagnosed at any age - in babies, children and adults. At Cincinnati Children’s, we care for people with a broad range of conditions that involve sex chromosomes, sex glands and hormones, and genital appearance. Examples are listed below:

Sex Chromosomes

  • Mixed gonadal dysgenesis
  • Sex chromosome mosaicism
  • Conditions resulting from different number or appearance of X and Y sex chromosomes

Sex Glands and Hormones

  • Gonadal dysgenesis (complete or partial)
  • Gonadal regression syndrome (“vanishing testes”)
  • Ovotesticular DSD
  • Congenital adrenal hyperplasia
  • Conditions resulting from inability to make male sex hormones (e.g., testosterone), including 5α-reductase deficiency
  • Androgen insensitivity (complete or partial, CAIS or PAIS)
  • Conditions involving 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