Disorders of Sex Development Treatment & Management

Updated: Dec 04, 2019
  • Author: Osama Al-Omar, MD, MBA, FACS, FEBU; Chief Editor: Marc Cendron, MD  more...
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Approach Considerations

Factors to consider when planning for definitive management of disorders of sex development (DSDs) include the following:

  • Phenotype
  • Functional potential of the external and internal genitalia
  • Tumor risk of the gonads
  • Fertility potential
  • Psychosexual issues (gender identity and sexual orientation)

Medical Care

Medical therapy for DSDs depends on the underlying cause and is indicated for the conditions associated with ambiguous genitalia, including congenital adrenal hyperplasia (CAH). Supplemental hormone therapy may be implemented if gonadal function is compromised.


Surgical Care

There remains considerable controversy surrounding the treatment of DSDs. No one debates the need to address and treat underlying physiologic problems such as those associated with CAH. The controversy primarily revolves around issues of gender reassignment. Gender assignment by the physician and family may not correlate with gender preference by the patient in adulthood. Remember that the most important sex organ is the brain, which may undergo hormonal imprinting in utero.

Various activists and some healthcare professionals have called for a moratorium on gender reassignment and genital surgery until studies have been completed on the long-term effects of such surgery. Several long-term follow-up studies are being conducted, including a study by the North American Task Force on Intersexuality. Many healthcare professionals oppose the proposed moratorium.

In a virilized female, the surgical procedure is termed feminizing genitoplasty and includes vaginoplasty, labiaplasty, and clitoroplasty (see the images below). [13] The optimal timing of feminizing genitoplasty has not been determined. [14, 15]

Patient with congenital adrenal hyperplasia (CAH; Patient with congenital adrenal hyperplasia (CAH; 46,XX DSD). Note phalluslike clitoris and empty scrotal appearance of labia majora.
Same patient with congenital adrenal hyperplasia ( Same patient with congenital adrenal hyperplasia (CAH; 46,XX DSD), after feminizing genitoplasty surgery. Note achievement of three components of surgery: clitoroplasty, vaginoplasty. and labiaplasty. Upper catheter is in urethra and lower one in vagina.

Undervirilized males typically have hypospadias requiring surgical reconstruction. The limited data available on the timing of reconstructive hypospadias surgery derive mainly from reconstructive studies and expert opinion; until more and better data become available, it may be reasonable to advocate early surgery, between the ages of 6 and 18 months. [16] Gender reassignment may be considered in patients with 46,XY DSD and genital inadequacy. [13]



The following consultations may be obtained:

  • Genetics/genetic counseling
  • Endocrinology
  • Pediatric gynecology
  • Pediatric urology
  • Psychology
  • Social work