| Sub-title | |
| Authors | S Vella M J Cachia |
| Abstract | Congenital adrenal hyperplasia is an autosomal recessive group of disorders characterized by a deficiency of one of the enzymes necessary for cortisol and/or aldosterone biosynthesis. There is a wide clinical spectrum, ranging from neonatal presentation with salt wasting and virilization, to non-classic presentation in adulthood with hirsutism, acne and oligomenorrhoea. Hypertension is also a recognized important manifestation. Congenital adrenal hyperplasia should be considered in the differential diagnosis of hirsute patients. We present an audit of twenty five patients diagnosed with congenital adrenal hyperplasia at an endocrine clinic at St Luke's Hospital, outlining the diagnostic criteria used. This audit has identified that there is no need for a synacthen test to establish a diagnosis if baseline levels of 17-hydroxyprogesterone are clearly elevated. There is a need however, to establish the baseline normal values for 17-hydroxyprogesterone and testosterone for the Maltese population, and stratify for age to ensure the correct cut-off point for these tests for the Maltese population. |
Published in: | |
| Journal | Malta Medical Journal |
| Volume | 18 Supplement |
| Page | |
| Date | 01/12/2006 |
| Link to journal | |
| Key words | audit, congenital adrenal hyperplasia, endocrine, synacthen test |