Questionnaire Study to Assess Long-term Psychosocial and Functional Outcomes in Individuals With Virilising Form of Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal-recessive disorders that results in virilisation of the female child due to intrauterine exposure to androgens at a critical phase of differentiation. Female infants may present with a variable degree of genital virilisation, and depending on it and on parental wishes, genital surgery (also called genitoplasty) is offered in infancy/early childhood. Some patients do not undergo surgery in infancy or early childhood, some of these patients may present at a later stage for consideration of genitoplasty, some may request further genitoplasty.

In current practice, most clitoral procedures involve dorsal neurovascular bundle preservation. However, damage to the clitoral innervation through incision could lead to disruption of neurological pathways, compromising clitoral sensitivity, erotic sensation and pleasure.

There is limited and controversial data measuring qualitative outcomes of sexual function and genital sensitivity following feminizing genitoplasty in childhood and it is very important to assess modern surgical and functional outcomes.

Another controversial topic is the timing of surgery, early infancy versus delayed to adolescence/adulthood, when the patient is able to give her opinion.

Currently there is extensive debate at national and international level about the best timing of such surgery and there are proposals to stop funding for all childhood surgery in the above group of children until they are old enough to make a decision.