Joel Steelman, M.D.Many people may have heard or read about the ongoing controversy regarding the gender of the South African runner, Caster Semnya. Headlines have proclaimed that Caster is a hermaphrodite with rumored findings of no uterus and a testosterone level within the male normal range.

Pediatric endocrinology actually has a strong presence in medical fact finding and decision making in cases like Caster’s. Disorders of sex development (DSD) is the medical term that refers to individuals who don’t clearly classify as male or female. DSD has been referred to in the past as ambiguous genitalia, intersex disorders or the very out-dated term hermaphrodites. Evaluation and management of Disorders of Sex Development has become a hot topic. I was at a recent combined US and International meeting for pediatric endocrinologists which had at least one session per day dealing with different aspects of care in DSD.

Since there have been so much recent discussion on DSD, it’s not surprising that even the definition is a debated topic.  My “simple definition” for DSD is a situation where an individual is born with internal and/or external reproductive organs that are not entirely consistent with either male or female. Individuals with DSD most often present as infants, and I meet most of my patients as infants in the nursery. This condition may have other accompanying abnormalities in the body such as kidney problems or deformities in the arms or legs, to name a few.

DSD has an estimated incidence of roughly 1 infant for every 30,000 born per year My personal experience as a pediatric endocrine specialist in several children’s specialty hospitals including Cook Children’s Medical Center has been to see about 2-5 infants per year with DSD.  

The evaluation of infants born with DSD often requires prolonged meticulous testing to arrive at a final diagnosis and treatment plan. As a pediatric endocrinologist, I rely on the support and help of other pediatric specialists including neonatologists, pediatric urologists, geneticists, and social workers when seeking a diagnosis and treatment plan for children with DSD.

Disorders of sex development isn’t a diagnosis on its own but opens a huge landscape of different medical conditions, most with genetic basis, that occurred early in a baby’s life while developing in the womb. With the exception of congenital adrenal hyperplasia and androgen insensitivity, most of these conditions don’t run in families and simply happen out of the blue. Infants begin life in the womb with gonads that may transform into either testes or ovaries. The process of transformation of these forming gonads takes place early in fetal life, by the 20th week of gestation. Here is a link that shows internal and external development in a male baby. The control of both genetics and hormones are important in development in both male and female babies, and disruption in any of these steps will lead to some form of DSD.

The diagnosis process in a child with DSD is hard emotionally on the families and child, if the child is beyond infancy. Factors such as prolonged uncertainty in diagnosis worry about needed treatments, and the undefined worries about a child’s place in society weigh heavily on families.

I can only imagine the emotional distress that Caster and her family are experiencing especially with the spotlight of worldwide attention. Perhaps, this experience will teach all of us a new appreciation of the challenges in DSD.