Late-Onset Congenital Adrenal Hyperplasia Presenting with Secondary Amenorrhoea: A Review of Published Cases

Abstract

Background: Late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents in adolescence or adult life
with androgen excess and is described as a mimic of polycystic ovary syndrome. Objective: To determine how often the condition presents with secondary amenorrhoea and whether menstrual disturbance justifies testing. Methods: Narrative review of published cohorts, prevalence studies, genotyping series and individual case reports. Findings: Oligomenorrhoea was the second commonest presenting complaint in a series of 220 patients, at 54%. Yet among 1,564 women tested, oligomenorrhoea was present in 20.3% of the 74 with confirmed disease against 40.1% of those without. No cohort reports secondary amenorrhoea as a presenting complaint with its own denominator. Conclusions: The published record supports hirsutism rather than cycle disturbance as the reason to test, and genotyping to confirm; it does not support any frequency for secondary amenorrhoea.