Adrenal rest tumours in congenital adrenal hyperplasia

Date
2008-07
Journal Title
Journal ISSN
Volume Title
Publisher
Journal of Endocrinology, Metabolism and Diabetes of South Africa (JEMDSA)
Abstract
Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is rare, occurring approximately once in every 15 000 live births.1 At birth it is often suspected in girls because of ambiguous genitalia, whereas boys have normal genitalia. The salt-losing type of CAH presents with adrenal crisis a few weeks after birth, while the simple type manifests virilisation and rapid growth years later. The diagnosis is confirmed by an elevated plasma 17-hydroxyprogesterone (17- OHP) level. Additional features in the salt-losing variety are hyponatraemia, hyperkalaemia, metabolic acidosis and an elevated plasma renin level. The gluco- and mineralocorticoid insufficiency is corrected by providing hydrocortisone and fludrocortisone, respectively. It may be necessary to add sodium chloride to infant feeds. Treatment is lifelong. If compliance is poor, excess androgen production, accelerated growth, secondary central precocious puberty and, in boys, adrenal rest tumours can occur, as in the following case.
Description
This publication is available at http://www.jemdsa.co.za/index.php/JEMDSA
Keywords
Congenital adrenal hyperplasia, Adrenal rest tumors
Citation
Zöllner, E. W. & Pitcher, R. 2007. Adrenal rest tumours in congenital adrenal hyperplasia. South African Medical Journal, 97(12), 1254.