Primary amenorrhoea, the failure to reach menarche, can be caused by a number of conditions. Accurate diagnosis of the underlying cause can prove difficult despite the plethora of current endocrine testing.

Vimalesvaran et al. describe an 18-year-old female who presented with primary amenorrhoea but no other significant symptoms. Initial investigations did not show any clinical or biochemical hyperandrogenism or any radiological evidence of polycystic ovaries. However, a raised luteinising hormone (LH) level was identified, suggestive of polycystic ovarian syndrome (PCOS). To assess whether this was indeed the case, the authors used a novel hormone, kisspeptin, to assess hypothalamic GnRH function by monitoring gonadotrophin response as a surrogate marker of GnRH release. This confirmed a diagnosis of PCOS.

This case highlights the need to consider PCOS as a differential diagnosis for patients presenting with primary amenorrhoea, and the potential of kisspeptin to act as a novel tool to test GnRH activity in patients presenting with these conditions.

Read the full article in Endocrinology, Diabetes & Metabolism Case Reports EDM160117 (OA)