Disorders of Sex Development :: Nationwide Children's Hospital

Disorders Of Sex Development (DSD)

Disorders of Sex Development

Disorders of sex development (DSD) represent a multitude of diseases in which there is deviation from the normal sexual development into a boy or a girl. These deviations can represent minor anatomic and biologic abnormalities or can result in more extreme findings that challenge more conventional definitions of male and female and make a specific gender assignment difficult at the time of birth.  Regardless of the presentation, disorders of sexual development require sensitive discussion and handling due to the potentially confusing, anxiety provoking nature of the disease.  

Types of disorders included in DSD

  • Ambiguous genitalia
  • Androgen insensitivity syndrome (complete, partial, mild)
  • Congenital adrenal hyperplasia
  • Gonadal dysgenesis (pure, mixed, partial)
  • Ovotesticular DSD
  • Klinefelter syndrome
  • Turner syndrome
  • Bilateral vanishing testis/testicular regression syndromes
  • Leydig cell agenesis
  • Disorders of testosterone biosynthesis
  • 5-alpha reductase deficiency
  • Disorders of Mullerian-inhibiting substance
  • Mayer-Rokitansky-Kuster-Hauser syndrome/vaginal agenesis
  • Persistent mullerian duct syndrome
  • Sex-chromosome mosaicism
  • Aphallia
  • Severe hypospadias or epispadias
  • Clitoromegaly


DSD symptoms may include:

  • Abnormal genital exam with ambiguous appearing genitalia
  • Life-threatening issues at birth with electrolyte disturbances
  • Significantly delayed puberty or menstruation
  • Cyclical abdominal pain without menstruation at time of puberty
  • Virilization in a female at puberty
  • Female inguinal hernia (uncommon)


Normal sexual development occurs due to several important steps during development. First the chromosomal sex of the embryo occurs during fertilization. Next, the appropriate gonadal organ has to develop. This organ then influences the development of the other internal reproductive organs and external genitalia. Interference in any one of these steps can result in deviation of normal development and a disorder of sex development. 


Patients can be diagnosed based on physical exam, laboratory work including hormonal and chromosomal studies or some imaging of the internal urinary and reproductive symptoms. Actual tissue may be needed with a biopsy of the gonadal organ. 

THRIVE Program at Nationwide Children’s

At Nationwide Children’s, we have an unique team designed to address disorders of sex development. The THRIVE Program [hyperlink program page] is a multidisciplinary clinic composed of specialists in urology, endocrinology, genetics, psychology, psychiatry and social work to ensure all medical, surgical, psychological and social aspects are addressed. The team provides comprehensive and long-term care for care for differences/disorders of sex development, complex urological conditions and gender concerns in order to provide guidance and support to patients and their families through all phases of growth into adulthood.

  • Role of the Urologist in THRIVE: Evaluate and explain the underlying anatomical condition
  • Discuss long term functional goals with patients and families and help determine if surgical intervention is needed
  • Discuss the type of surgery that might be performed and expected outcomes
  • Offer long term follow-up to ensure adequate preparation and transition to adult life

contact info

Urology Clinic: (614) 722-6630
Nurse Line: (614) 722-3145
Appointment Line: (614) 722-6200

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Nationwide Children's Hospital
700 Children's Drive Columbus, Ohio 43205 614.722.2000