As a pediatrician and urologist specifically concentrating on disorders of sexual development (DSD)- “congenital conditions in which the development of chromosomal, gonadal, or anatomical sex is atypical” (Arnold/Saguy, Lecture 11)- every once in a while, a pregnant woman, whose first child is born with congenital androgen hyperplasia (CAH), comes to my office asking for a medicinal point of view on the biological, psychological, and ethical methods of treatment of her second child. Since recent advancements in research on ambiguous genitalia has uncovered several treatments that attempt to prevent certain disorders of sexual development in children, the woman comes in for insight on a steroid treatment specifically to avoid her second child developing ambiguous genitalia.
As a doctor, I simply cannot allow for a pregnant patient to jump into a treatment, which in this case would be the prenatal dexamethasone treatment, without properly educating her on the benefits versus the risks. Though the dexamethasone treatment can help prevent ambiguous genitalia, there are slim chances and several factors that go into the treatment therapy working out successfully, there are ethical questions posed that require thorough consideration in order to achieve an ideal lifetime of fewer medical concerns for the parents of children with disorders of sexual development and the children with disorders of sexual development, there are concerns from a sociological standpoint, which lend to the ultimate decision to go in a different direction from the prenatal dexamethasone treatment, and there are the complexities of a sexual development disorder such as congenital adrenal hyperplasia.
Because the mother came in requesting a specific steroid treatment, called prenatal dexamethasone, to prevent a form of congenital adrenal hyperplasia- a gene mutation which leads to the synthesis of an adrenal hormone, cortisol, and causes an adrenal testosterone increase (Arnold/Saguy, Lecture 11)- (or ambiguous genitalia) some background knowledge on the disorders of sexual development and the therapy is necessary for the mother to fully understand what it is she is requesting for her unborn child. In order for a child to be born with congenital adrenal hyperplasia, both parents must carry the autosomal recessive trait. This means that every time a woman with the autosomal recessive trait becomes pregnant from sexual intercourse with a man who also carries the autosomal recessive trait, then the children born will have one in four chance of developing ambiguous genitalia (Speiser et al. 2000).
A gene encoding mutation of the adrenal steroid 21-hydroxylase enzyme leads to the most common form of congenital adrenal hyperplasia, a 21-OH deficiency that causes a cortisol synthetic block (Fernandez, 2010). “Failure of cortisol synthesis results in lack of inhibition of ACTH, increase in ACTH, which stimulates androgen production” (Arnold/Saguy, Lecture 11). Universally, 1 in 16000...