Approach Considerations
Factors to consider when planning for definitive management of differences (disorders) of sex development (DSDs) include the following:
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Phenotype
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Functional potential of the external and internal genitalia
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Tumor risk of the gonads
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Fertility potential
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Psychosexual issues (gender identity and sexual orientation)
Several professional organizations have published guidance for the management of patients with these conditions, including the Consortium on the Management of Disorders of Sex Development [13] ; the Global DSD Update Consortium [14] ; the DSD-TRN Psychosocial Workgroup, the DSD-TRN Advocacy Advisory Network, and the Accord Alliance [15] ; the Society for Endocrinology UK [16] ; and the British Society for Paediatric Endocrinology and Diabetes. [17]
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. It must be kept in mind 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 separation of the urethra and vagina, vaginoplasty, labioplasty, and clitoroplasty (see the images below). [18] In modern management of DSDs, clitoroplasty is a highly debatable practice and is rarely done except in very virilized female patients with Prader stage 4 or 5. The optimal timing of feminizing genitoplasty—early vs delayed—remains to be determined; the choice requires shared decision-making with the family. [19, 20]
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 (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. [21] Gender reassignment may be considered in patients with 46,XY DSD and genital inadequacy. [18]
Consultations
The following consultations may be obtained:
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Genetics/genetic counseling
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Endocrinology
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Pediatric gynecology
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Pediatric urology
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Psychology
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Social work
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Patient with 46,XX disorder of sex development (DSD). Note masculinized appearance of genitalia, with enlarged phallus and scrotal appearance of labia.
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Patient with congenital adrenal hyperplasia (CAH; 46,XX DSD). Note phalluslike clitoris and empty scrotal appearance of labia majora.
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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.
Tables
Previous Term |
Revised Term |
Female pseudohermaphrodite |
46,XX DSD |
Male pseudohermaphrodite |
46,XY DSD |
True hermaphrodite |
Ovotesticular DSD |
XX male |
46,XX testicular DSD |
XY sex reversal |
46,XY complete gonadal dysgenesis |
