Polycystic ovarian syndrome (PCOS) is a common disorder affecting women of childbearing age. The clinical triad of PCOS includes: hirsuitism, oligo/amenorrhoea and ultrasonographic appearances of PCOS. However, this triad could occur in other disorders such as late onset congenital adrenal hyperplasia (CAH). Although CAH is mainly diagnosed in childhood, it could occur in adults. In this abstract we describe a patient who presented with features of PCOS, the final diagnosis, however, was late-onset CAH. A 24 year-old lady was referred to the endocrine clinic with menstrual abnormalities and hirsutism. She attained menarche at the age of 17 years with initial regular monthly cycles. Oligomenorrhoea started after the patient stopped taking combined oral contraceptives (OCP). She also complained of hirsutism, which started at puberty and worsened gradually. Past medical history was unremarkable. Her mother and grandmother had ovarian cysts. Clinical examination was unremarkable. A diagnosis of PCOS was made. Ovarian ultrasound showed features consistent with PCOS bilaterally. Initial investigations showed elevated testosterone and androstenedione levels of 3.8 and 20.1 nmol/l respectively (normal ranges 0.52.6 and 1.712.9 respectively). 17-hydroxyprogesterone levels (17OHP) was elevated 18.6 nmol/l (normal range <17.4). Synacthen test showed normal cortisol response but 17OHP rose from 10.8 nmol/l at 0-minute to 119.5 nmol/l at 60-minutes. The results were consistent with a diagnosis of late-onset CAH. Genetic analysis revealed a V281L point mutation and deletion/conversion of CYP21.
This case highlights that features of late onset CAH are indistinguishable from those of PCOS. Professionals involved with PCOS patients should be aware of the resemblance between PCOS and late-onset CAH. This case also highlights the importance of measuring 17OHP levels in PCOS patients in order to exclude late-onset CAH.
06 - 07 Nov 2006
Society for Endocrinology