Expert opinions on managing fertility and pregnancy in patients with mucopolysaccharidosis

Fiona Stewart; Andrew Bentley; Barbara K. Burton; Nathalie Guffon; Susan L. Hale; Paul R. Harmatz; Susanne G. Kircher; Pavan K. Kochhar; John J. Mitchell; Ursula Plöckinger; Jennifer Semotok; Sue Graham; Stephen Sande; Zlatko Sisic; Tracey A. Johnston

doi:10.1177/2326409816669375

Expert opinions on managing fertility and pregnancy in patients with mucopolysaccharidosis

Fiona Stewart^*, Andrew Bentley, Barbara K. Burton, Nathalie Guffon, Susan L. Hale, Paul R. Harmatz, Susanne G. Kircher, Pavan K. Kochhar, John J. Mitchell, Ursula Plöckinger, Jennifer Semotok, Sue Graham, Stephen Sande, Zlatko Sisic, Tracey A. Johnston

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

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 tothe lackof documented cases and a dearth in the literatureon this topic.This reviewpresentsmultidisciplinary 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.

Original language	English (US)
Journal	Journal of Inborn Errors of Metabolism and Screening
Volume	4
DOIs	https://doi.org/10.1177/2326409816669375
State	Published - 2016

Keywords

Adult
Expert opinions
Fertility
Mucopolysaccharidoses
Pregnancy

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Endocrinology, Diabetes and Metabolism
Genetics(clinical)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1177/2326409816669375

Cite this

Stewart, F., Bentley, A., Burton, B. K., Guffon, N., Hale, S. L., Harmatz, P. R., Kircher, S. G., Kochhar, P. K., Mitchell, J. J., Plöckinger, U., Semotok, J., Graham, S., Sande, S., Sisic, Z., & Johnston, T. A. (2016). Expert opinions on managing fertility and pregnancy in patients with mucopolysaccharidosis. Journal of Inborn Errors of Metabolism and Screening, 4. https://doi.org/10.1177/2326409816669375

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title = "Expert opinions on managing fertility and pregnancy in patients with mucopolysaccharidosis",

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 tothe lackof documented cases and a dearth in the literatureon this topic.This reviewpresentsmultidisciplinary 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.",

keywords = "Adult, Expert opinions, Fertility, Mucopolysaccharidoses, Pregnancy",

author = "Fiona Stewart and Andrew Bentley and Burton, {Barbara K.} and Nathalie Guffon and Hale, {Susan L.} and Harmatz, {Paul R.} and Kircher, {Susanne G.} and Kochhar, {Pavan K.} and Mitchell, {John J.} and Ursula Pl{\"o}ckinger and Jennifer Semotok and Sue Graham and Stephen Sande and Zlatko Sisic and Johnston, {Tracey A.}",

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doi = "10.1177/2326409816669375",

language = "English (US)",

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Stewart, F, Bentley, A, Burton, BK, Guffon, N, Hale, SL, Harmatz, PR, Kircher, SG, Kochhar, PK, Mitchell, JJ, Plöckinger, U, Semotok, J, Graham, S, Sande, S, Sisic, Z & Johnston, TA 2016, 'Expert opinions on managing fertility and pregnancy in patients with mucopolysaccharidosis', Journal of Inborn Errors of Metabolism and Screening, vol. 4. https://doi.org/10.1177/2326409816669375

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AU - Bentley, Andrew

AU - Burton, Barbara K.

AU - Guffon, Nathalie

AU - Hale, Susan L.

AU - Harmatz, Paul R.

AU - Kircher, Susanne G.

AU - Kochhar, Pavan K.

AU - Mitchell, John J.

AU - Plöckinger, Ursula

AU - Semotok, Jennifer

AU - Graham, Sue

AU - Sande, Stephen

AU - Sisic, Zlatko

AU - Johnston, Tracey A.

PY - 2016

Y1 - 2016

N2 - 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 tothe lackof documented cases and a dearth in the literatureon this topic.This reviewpresentsmultidisciplinary 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.

AB - 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 tothe lackof documented cases and a dearth in the literatureon this topic.This reviewpresentsmultidisciplinary 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.

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KW - Mucopolysaccharidoses

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Expert opinions on managing fertility and pregnancy in patients with mucopolysaccharidosis

Abstract

Keywords

ASJC Scopus subject areas

UN SDGs

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