S12.11 CLASSICAL VERSUS NON-CLASSICAL CONGENITAL ADRENAL HYPERPLASIA: GENOTYPE PHENOTYPE CORRELATIONS: AN INSIGHTFUL FAMILY CASE STUDY

Introduction: The phenotype of non-salt wasting congenital adrenal hyperplasia (CAH) is difficult to ascertain based on clinical assessment especially in a male (1). However it is important to identify all CAH patients who are likely to benefit from treatment. A combination of clinical, biochemical and genetic evaluation will permit identification of many more patients who may benefit from treatment. We present a family in which genotyping has highlighted the effects of mild excess androgens during growth. Case Report: The index case is a male child born at term after an uneventful pregnancy who presented on day 16 with a salt wasting crisis. Mild hyperpigmentation of genital skin was noted. There was no history of consanguinity or miscarriages in the family. Blood biochemistry demonstrated hyperkalemia, hyponatremia, raised 17-hydroxy progesterone and plasma renin activity. The child was diagnosed with salt wasting CAH and was initiated on hydrocortisone, fludrocortisone and salt. He