Hyperandrogenism in polycystic ovary syndrome and adrenal hyperplasia: finding differences to make a specific diagnosis

Abstract

Purpose: Polycystic Ovary Syndrome (PCOS) and Adrenal hyperplasia (CAH) are two pathologic conditions sharing several clinical features (hirsutism, acne, polycystic ovary morphology, metabolic alterations, ovulatory dysfunctions) and especially hyperandrogenism as a common clinical hallmark. Therefore, making a differential diagnosis of the two conditions still remains a great medical challenge.

Methods: In particular, the comparison discussed in this review referred to non-classical form of adrenal hyperplasia (NCAH), which regards the adult population, and the Endocrine Metabolic Syndrome (EMS), following the new set of PCOS diagnostic criteria proposed by the Experts Group on Inositol and Clinical Research, and on PCOS (EGOI-PCOS). To support this review, a literature search was conducted using PubMed, Google Scholar and Web of Science, supplemented by articles known to the authors. Keywords included: polycystic ovary syndrome, non-classical adrenal hyperplasia, hyperandrogenism, and 17-Hydroxyprogesterone.

Results: Considering the different pathophysiology of the two conditions, the recommended strategy to differentiate diagnosis is testing the blood values of 17-hydroxyprogesterone (17-OHP) in fertile aged women with suspicious hyperandrogenism. Basal values of 17-OHP higher than 2 ng/mL likely indicate NCAH, while values lower than 2 ng/mL exclude the diagnosis of NCAH; in case of borderline values stimulation test with adrenocorticotropic hormone may eventually confirm the diagnosis.

Conclusion: This review contributes to make the differential diagnosis between hyperandrogenic PCOS and NCAH clearer, thus also aiming to achieve tailored therapeutic approaches for patients with hyperandrogenism.

Keywords: 17-OHP; Adrenal hyperplasia; Differential diagnosis; EGOI-PCOS criteria; NCAH; PCOS.