Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder affecting adrenal steroid biosynthesis.For the paediatric endocrinologist,the presentation is at birth manifest as ambiguous genitalia in girls and as salt loss in both sexes.The affected male has normal external genitalia and the salt loss is delayed until the second week of life.Hence,a life threatening salt-losing crisis may occur accounting for the sex imbalance of this disorder in the past.Several cou...

Objective: To assess the understanding of congenital adrenal hyperplasia (CAH) among families of Caucasian White (W) and Asian (A) with CAH, and also to evaluate the need for interpreters for Asian families attending the North West Regional CAH clinic.Design: A parent directed questionnaire was administered by two interviewers, one of whom spoke Urdu,Punjabi and Bengali to 18 A families ( M = 8 F=18) and 39 W families (M=20 F=22) with children with CAH, ...

The diagnosis of Congenital Adrenal Hyperplasia can be immensely difficult to cope with, especially if the infant presents unwell with associated salt-losing crisis. The need for education verbally and in written format is paramount. This needs to be staged and ongoing, with regular updates.New parents often need advice on general baby care/bonding. Add to this instruction on how to manage the condition, and things can become overwhelming. Practical advi...