Abstract The
mucopolysaccharidosis (MPS) disorders are rare
genetic diseases caused by deficiencies in lysosomal
enzymes involved in the degradation of
glycosaminoglycans, leading to pulmonary, cardiac and neurological dysfunctions, skeletal anomalies, impaired
vision, and/or
hearing and shortened
life spans. Whereas in the past, few individuals with MPS reached adulthood, better
diagnosis, multidisciplinary care, and new
therapies have led to an increasing number of
adult patients with MPS. Therefore,
fertility and
pregnancy questions in this
patient population are becoming more important. Management of
fertility issues and
pregnancy in
patients with MPS is challenging due to the lack of documented cases and a dearth in the
literature on this topic. This
review presents multidisciplinary
expert opinions on managing
fertility and
pregnancy based on
case studies and clinical experience presented at a meeting of MPS
specialists held in
Berlin,
Germany, in April 2015. An overview of the existing
literature on this subject is also included.