Paediatric Endocrinology and Metabolism

We are currently involved in several projects in which continued recruitment of subjects is welcomed. These are:

1. Genotype-phenotype correlation in 21-hydroxylase deficiency
2. In-vitro assay of mutant 21-hydroxylase activity
3. DAX-1 gene analysis in adrenal hypoplasia congenita
4. Gsa gene analysis for pseudohypoparathyroidism type 1a