Polycystic ovary syndrome (PCOS) with melanocytic mucosal macules: The role of STK11 gene polymorphisms in PCOS and Peutz-Jeghers syndrome

Abstract

Background: Polycystic ovary syndrome (PCOS) is a complex genetic disorder that is the most common endocrinopathy that affects women. Observations: We report two individuals with PCOS with a genetic polymorphism in serine threonine kinase 11 (STK11). Both these individuals developed mucosal pigmentation suggesting Peutz-Jeghers syndrome (PJS), which is associated with mutations in STK11. Both individuals showed some improvement in their metabolic and endocrine dysregulation with therapies commonly used for PCOS. However, they continued to show progression of mucosa pigmentation. Conclusions: This is the first report of clinical overlap in individuals with PCOS and PJS, even though some individuals with PCOS show a polymorphism in STK11, which is the gene mutated in PJS. The importance of this clinical association is not clear but may be significant because of the association of STK11 dysregulation and the development of internal tumors.