Team offers multidisciplinary expertise for patients with disorders of sex development

When genitals are not clearly male or female at birth, a child has what is termed ambiguous, or atypical, genitalia. This diagnosis can be traumatizing to parents, who must quickly develop an understanding of the diagnosis’ complex underlying causes.

Because gender assignment will affect a child for the rest of his or her lifetime, it is critical for parents to work with medical professionals who can guide them through what is often an emotionally charged time.

To help parents make these very difficult decisions, a multidisciplinary team at St. Louis Children’s Hospital offers expertise in diagnosing and treating disorders of sex development (DSD).

Making a correct determination of gender is important for both medical treatment and for the long-term physical health and emotional well being of the child. The DSD team strives to be timely in its recommendations, with the goal of meeting within 24 hours of an infant’s condition being identified.

In the past, a baby’s sex generally was determined by a physician based on the appearance of a newborn’s genitals; this approach was thought to save parents distress in cases of atypical genitalia. Today, medical professionals look much more carefully at a child’s chromosomal gender in order to gain a clear picture of the DSD in individual patients and to allow families the opportunity to make the very best choice for their child.

Doing so involves a physical exam and family history, and also chromosome analysis, hormone testing, electrolyte tests, and imaging such as a genitogram, ultrasound or MRI to evaluate the internal sex organs. In some cases, specific genetic testing is recommended.

Washington University faculty — specialists in endocrinology, urology, gynecology, genetics, psychology and ethics — work together to provide parents with as much medical insight as possible and then make recommendations for treatment based on their findings and in accordance with parents’ cultural, religious and social beliefs.

“Individuals with DSDs often present with complex medical concerns. Our goal is to apply an in-depth, multidisciplinary approach — using a shared decision-making process — to deliver the best care possible for all patients,” says Abby Hollander, MD, who serves as one of two co-leaders of the Washington University DSD Team.

DSDs encompass a group of congenital conditions in which a discrepancy exists between a baby’s external and internal genitals or there is discordance between a baby’s physical and genetic sex.

The most common DSD is congenital adrenal hyperplasia, an autosomal recessive disorder. DSDs occur because of hormonal imbalances that may result from inappropriate exposure of the fetus to male or female hormones during development, or due to a mutation that prevents proper recognition of hormones.

The team also provides services to older children and adolescents whose DSDs were not diagnosed at birth. One example is Turner syndrome, a condition seen in girls, in which the absence of part or all of one of the X chromosomes prevents the ovaries from working properly.

Although treatment options for DSDs are varied, they generally involve hormone replacement on an ongoing basis.

More controversial is the issue of surgical “correction” of genitals, or more specifically, the timing of such surgery. While often helpful to parents, who want to end any gender ambiguity and hope their child will have no memory of surgery, today’s focus is on the long-term health of the individual patient.

Reconstructive surgical procedures are discussed with families in a shared decision-making process and tailored to the DSD condition and expectations of the family. Surgery may be done early, late or in stages: correcting outward appearance in infancy, and then correcting internal structures after puberty.

The treatment goal is to provide patients with genitals that are as normal as possible in appearance and function — whether for urine elimination, reproduction or for sexual activity.

In addition to clinical care, members of the DSD team are involved in a variety of collaborative DSD-related research, including genetics, genomics, surgical reconstruction and psychosocial studies.

Current NIH-sponsored studies include Short-term Outcomes of Interventions for Reproductive Dysfunction and participation in the national DSD Translational Research Network (DSD-TRN), a collaborative group focused on understanding the genetic causes and psychological implications of DSD conditions and improving the standard of care for patients dealing with DSDs.  “Our DSD team at is committed to advancing the understanding and management of DSD conditions,” says pediatric urologist Paul Austin, MD, who serves as principal investigator for the DSD-TRN at Washington University School of Medicine and co-leader of the DSD team with Hollander.

Other studies by the Washington University DSD team include a Retrospective Review of DSD Cases and Bridging Genomics and Epigenomics in DSD.

These studies, combined with its clinical efforts, ensure that the Washington University DSD team at St. Louis Children’s Hospital offers state-of-the-art management for a variety of DSDs.

Learn more about the Washington University DSD team >>

To refer a patient for evaluation by Washington University DSD specialists at St. Louis Children’s Hospital, please contact Children’s Direct at 800-678-HELP (4357).