A case of cured late-onset congenital adrenal hyperplasia
Annabel Fountain & Colin Johnston
We present a 46 year old female referred in 1990 with hirsutism, hypertension and irregular menses. She was not overweight at 50.3 kg. The facial hair was controlled with electrolysis; blood pressure controlled with Enalapril and Bendrofluazide.
Initial biochemistry showed an elevated LH/FSH ratio (19.6:4.2 U/L), raised testosterone (3.9 nmol/L), high DHEA (14.7 umol/L) SynACTHen test revealed a significant increase in 17-hydroxyprogesterone basal 3.9 nmol/, 20 mins 13.3 nmol/L, 60m mins,16.4 nmol/L. This suggested an adrenal origin for her androgen excess. A diagnosis of late onset congenital adrenal hyperplasia was suggested, with a differential of polycystic ovarian disorder. She was commenced on 5 mg of Prednisolone at night and 2.5 mg in the morning.
6 months later, the testosterone level was normal (1.9 nmol/L), and at 1 year remained suppressed at 1.3 nmol/L. The DHEA and 17 hydroxyprogesterone were also normal (0.3 umol/L and 2.7 nmol/L respectively). LH/FSH ratio remained abnormal. Prednisolone treatment was therefore continued.
These tests were repeated at 6-12 monthly intervals and, apart from the LH/FSH ratio, all remained normal. Her hirsutism improved and periods became regular. In 1996, prednisolone was reduced to 2.5 mg bd. Testosterone and 17-hydroxyprogesterone remained suppressed. The dose or prednisolone was further reduced in 1999 to 2.5 mg at night with no change in her hormonal profile. Weight has not changed over the 15 year period.
In 2004 it was suggested that the patient have a trial off prednisolone. There has been no change in her hormonal profile (October 2006 - Testosterone 1.1 nmol/L). She continues off Prednisolone with no recurrence of her symptoms.
It is likely that this patient had PCOS but she responded very well to steroid therapy. We will discuss the differential with late onset CAH and it is interesting that for either diagnosis her condition has been cured without change in weight, lifestyle etc.