Treatment of Manifestations
A consensus statement on the management of disorders of sex development (DSDs) was developed under the sponsorship of the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology [Lee et al 2006]. Further consensus guidelines for the care of children with DSD were developed by the Texas Children's Hospital [Douglas et al 2010] (full text) and others [Parisi et al 2007] (full text).
Evaluation and long-term management should be received at a center with an interdisciplinary care team (including clinical geneticists, endocrinologists, surgeons, and mental health professionals) experienced in the diagnosis and management of DSDs.
The general concepts of care include the following.
Sex assignment
Surgical decisions should be made after detailed discussion with the family about risks, benefits, and limitations of any proposed surgery. Many surgeries are not medically necessary and thus, consideration should be given to delay the surgery in order to allow the affected individual to participate in the decision-making process.
Surgical intervention in minors with DSD is controversial, particularly in those being reared female. Surgical intervention should focus on functionality; whenever possible, removal of tissue and irreversible procedures should be avoided.
When male sex of rearing is chosen, surgical options may include hypospadias repair, orchiopexy, scrotoplasty, and phalloplasty. Removal of müllerian remnants may be considered.
When female sex of rearing is chosen, surgical options may include clitoroplasty, vaginoplasty, and urogenital sinus mobilization. Vaginal dilation is also used for creation/expansion of the vagina.
Note: (1) No controlled clinical trials of the efficacy of different surgical techniques have been conducted. The long-term data regarding the quality of life and sexual function among those assigned male and female sex vary. (2) There is no consensus on the appropriate timing of the surgical procedures listed.
Management of gonads
Streak gonads and dysgenetic gonads are at increased risk for gonadoblastoma and should be surgically removed if nonfunctional.
If a dysgenetic gonad is located in the inguinal canal, it may be placed into the scrotum if results of an hCG stimulation test indicate some testicular function.
Removal of gonads that are not consistent with the assigned sex of rearing is controversial.
Depending on the specific diagnosis, potentially functional gonads may be retained with appropriate surveillance for tumor development.
Routine surveillance for the development of contrasexual puberty is warranted in those whose sex of rearing is discordant with gonadal sex.
In some states, removal of potentially functional gonads in a minor requires a court order.
Hormone therapy. Sex steroid therapy is important for the development of secondary sexual characteristics and for normal adolescent bone mass accrual.
Psychosocial aspects of care. As noted in the Lee et al consensus statement, "The initial contact with the parents of a child with a DSD is important, because first impressions from these encounters often persist…. Ample time and opportunity should be made for continued discussion with review of information previously provided." [Lee et al 2006]
Open communication with affected individuals and families, including their active participation in the decision-making process, is critical.
Providers need to address the concerns of the affected individual and family respectfully and in strict confidence.
Fertility
Regular follow up with an interdisciplinary DSD team including endocrinology, medical genetics, obstetrics/gynecology, psychology, and urology is indicated.