Mucopolysaccharidosis (MPS) are a group of inherited lysosomal storage disorders which are caused due to deficiencies in enzymes leading to accumulation of glycosaminoglycans. There is extensive literature available on the… Click to show full abstract
Mucopolysaccharidosis (MPS) are a group of inherited lysosomal storage disorders which are caused due to deficiencies in enzymes leading to accumulation of glycosaminoglycans. There is extensive literature available on the systemic impact of MPS. However, there is a deficit in the number of publications about the prevalence of gynecological problems in women with MPS. In this study, we aim to identify if there is a difference in the menstrual patterns, gynecological problems, and pregnancy complications in women with MPS in comparison to the control population. The study is designed as a case control study in which the cases are women diagnosed with MPS over the age of 12 who have begun menstruating, and the controls are women over the age of 12 without a diagnosis of MPS. Women who underwent a hematopoietic stem cell transplant were excluded from the study as the drugs used for this procedure could influence menstruation and fertility. The study was conducted in the form of a 34-question survey. The survey is divided into questions regarding demographics, menstruation and pregnancy outcomes. The menstrual questionnaire was scored, and chi square analysis was performed to analyze the differences between the case and control group. Data regarding pregnancy complications, age at menarche and use of enzyme replacement therapy were portrayed using descriptive statistics. The results of the study will be presented at the conference. Through this study we shed light on the menstrual and pregnancy complications found in women with MPS. We hope that this study will be the first step towards identifying any effect MPS disease may have on the reproductive system.
               
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