Introduction: Congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency is one of the most common autosomal recessive hereditary diseases. There are two main forms of CAH: early onset, the classic variety, and late onset or non classic type. Here, we aim to describe the case of a young lady with features of both varieties of CAH.
Case report: Twenty-three-year-lady of Asian descent presented with polymenorrhagia since menarche (age 13 years), hirsutism and clitoromegaly since 7 years. There was no history of ambiguous genitalia or salt wasting crisis at birth. She had previously been labelled as a case of polycystic ovaries and been placed on Diane 35, with some regularization of her cycles. On examination, she had moderate hirsutism (Ferriman Gallway score (FG) score 20/36, normal <8/36), marked clitoromegaly (clitoral index 50 mm2, normal: <35 mm2). Serum testosterone was 145.8 ng/dl (682), while 17-hydroxy progesterone 170.0 ng/ml (0.191.82). ACTH stimulation test uncovered borderline cortisol deficiency, with 60 min post synacthen cortisol: 17.0 μg/dl (>18 μg/dl). Oral dexamethasone was commenced in reverse rhythm, with advice to double the dose at times of stress.
Conclusions: Prior to labelling a subject with hirsutism and menstrual irregularity as a case of polycystic ovarian syndrome, other hormonal dysfunction requires exclusion. Congenital adrenal hyperplasia is an important consideration in the differentials, which is all too often overlooked by physicians. Clinicians need to be aware of the possibility of non-classic CAH presenting with the unusual history of polymenorrhagia, versus the usual presentation of oligo/amenorrhea. Phenomenally high 17-OH progesterone levels can also be associated with the non classic variety.
30 Apr - 04 May 2011
European Society of Endocrinology