Endocrine Abstracts

A 37 year old lady presented to her GP with increasing lethergy, bloating and low mood associated with her menstrual periods. Her GP undertook a hormonal screen including androgen profile which revealed elevated 17-Hydroxyprogesterone 25.5 nmol/L (0.1–8.5). The rest of her androgen profile was normal. As a teenager she suffered with acne and hirsutism, for which she had laser therapy, but this had resolved. Periods were regular, every 28 days with 1–2 days menstruation. She underwent synacthen testing which showed a peak cortisol of 468 nmol/L and peak 17-hydroxyprogesterone 120 nmol/L. We also organised urinary steroid profiling [results pending] because diagnosis based on stimulated 17-hydroxyprogesterone levels can result in false positives. Her main concerns were lethargy and fertility. She was reassured that her symptoms were unlikely to be related to the biochemical abnormalities described. She was advised that the synacthen test demonstrated no evidence of adrenal insufficiency. She was also advised that no medication is recommended regarding fertility at present.

Discussion: This case highlights the anxiety that incidental biochemical findings can raise. She had no clinical reason to suggest non-classical congenital adrenal hyperplasia or PCOS history. This case also serves as a reminder of the utility of urinary steroid profiling as a confirmatory test given the potential for stimulated 17-hydroxyprogesterone levels to provide false positive diagnosis.