Prevalence and Metabolic Characterization of Polycystic Ovary Syndrome in a Cohort of Patients Diagnosed with Spina Bifida: Study Protocol

Background: Myelomeningocele, commonly known as spina bifida, is a congenital malformation of the spinal cord. Polycystic ovary syndrome (PCOS) is a complex endocrine-metabolic disorder affecting 9–21% of women of reproductive age and is characterized by hyperandrogenism and ovulatory dysfunction. Hyperhomocysteinemia, insulin resistance, metabolic syndrome, and alterations in inositol metabolism play a crucial pathophysiological role in both PCOS and spina bifida; however, the potential link between these two significant conditions has not been explored. Objectives: The primary objective of our study is to assess the prevalence of PCOS among female pediatric patients with a prior diagnosis of spina bifida. Additionally, we will evaluate differences in auxological and metabolic parameters between patients diagnosed with PCOS and those without the diagnosis. The secondary objectives of our study include the following: characterizing the metabolic profiles of patients with PCOS and differentiating between various phenotypic forms of PCOS. Methods: Prospective, cross-sectional, observational, and monocentric study. The study will have an overall duration of 24 months, with the potential for extension until the last patient is enrolled. The recruitment period is set at 12 months.