The management of congenital adrenal hyperplasia from paediatric to adult care
Congenital adrenal hyperplasia (CAH) is a life-time disorder affecting 1 in 10 00015 000 infants and in 9095% of cases is due to a reduction in the activity of the adrenal 21-hydroxylase enzyme. CAH is frequently diagnosed in the newborn period with virilisation of the genitalia in females and salt-wasting (SW) in both sexes, the latter associated with very low levels of 21-hydroxylase enzyme activity. The simple virilising (SV) form presents during childhood with rapid growth, advancing bone age and signs of virilisation.
Childhood management is dominated by (i) careful attention to achieving steroid replacement doses that will be associated with normal growth, pubertal timing and good health, (ii) emphasis on compliance and (iii) education of parents about the condition and the management of potential crisis situations. As growth is completed and full pubertal maturation achieved, then the need for the young person to assume responsibility for their condition and treatment becomes important. At this stage the families will have experienced 15 or more years of paediatric care. As these young people have had their daily treatment dictated by parental routines and wishes, this transitional period is often a difficult time with the adolescent revealing a poor understanding of CAH, variable compliance with steroid replacement and oppositional behaviours, which can impact on educational achievements and engagement with medical services.
Height outcomes from paediatric CAH clinics are good (in our clinic the median height SDS at 15 years is −0.26 for SW and −0.05 for SV), but we do recognise a plethora of other health issues that these young CAH patients, in particular the girls, may face including the consequences of hyperandrogenism, PCOS, obesity (BMI >+2 SDS in 18%), infertility, and genital tract, psychosexual and psychosocial problems (18%).
A structured approach to management in the transition years is absolutely essential involving paediatric and adult endocrinology services with access to psychology, surgery, reproductive medicine, dietetic input and social services. However the exact model to achieve optimal transition has not yet been defined, and is an area that merits research and service evaluation.