Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) is characterised by impaired gluco and mineralocorticoid and excessive adrenal androgen secretion from the adrenal cortex. More than 90% of cases of CAH are caused by defects in the steroid 21-hydroxylase (CYP21) gene. We describe the association between salt-losing 21-hydroxylase deficiency and growth hormone deficiency.

Patients and Methods: We reviewed 4 patients with salt-losing CAH (CYP21), who presented with growth hormone deficiency (GHD) between the ages of 2.1 and 12.9 years. All had salt-losing crises with hypotension in the neonatal period. All patients had GH insufficiency to a pharmacological test (patients 1,3,4), or low serum GH dependent growth factors (IGF-1, IGF-BP3)(patient 2). Patients were treated with 12-15 mg/m2/d of Hydrocortisone (HC), and 100-150 mcg/m2/d of Fludrocortisone (9aF).

Conclusion: All 4 patients had neonatal salt-losing crises with hyponatraemia and hypotension. We hypothesise that this lead to pituitary damage analogous to the aetiology of Sheehan's syndrome in adult women. The association with GHD should be considered in children with CYP21 deficiency on low dose glucocorticoid treatment, who are failing to grow at a normal rate.