Pubertät, Schwangerschaft und Fertilität bei Mukopolysaccaridosen und Mukolipidosen
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Abstract
BACKGROUND:
Mucopolysaccharidosis (MPS) and Mucolipidosis (ML) are rare lysosomal storage disorders, resulting in progressive multi-organ disease including severe skeletal affection. There are only few reports on puberty, fertility and pregnancy in patients with MPS/ML. Aim of this survey was to obtain more insight into female fertility, pregnancy and the peripartal period in MPS/ML patients.
METHODS:
41 female patients ≥16 yrs (17-63 yrs) with MPS I/III/IV/VI or ML III from 7 German-speaking metabolic centers participated in this survey (questionnaire with 65 questions on fertility and pregnancy).
RESULTS:
Beginning of pubarche was observed with 13±3.7 yrs, the mean age at menarche was 14±1.8 yrs, breast development ended at 16±2.2 yrs and adult body height was reached at 16±4.1 yrs. Menopause started at the age of 47,5±2.9 yrs (n=4). Eleven pregnancies in eight females, all after spontaneous conception, passed without severe complications. At start of pregnancy, mothers were aged 28±4.2 yrs and 145±20 cm tall. Five females gave birth to 1 child, 1 to 2 children and 1 to 3 children. One pregnancy was terminated by interruption. Three women received enzyme replacement therapy (ERT) during pregnancy. Delivery was uneventful in all females and occurred after 38±1.5 weeks of pregnancy (3/10 spontaneously, 7/10 Caesarean section). All children were healthy at birth. Five mothers were breastfeeding, 2/5 while on ERT.
DISCUSSION:
These data demonstrate that pubertal development and fertility in females with MPS/ML do not show significant differences from healthy average population. Pregnancy and delivery were without major complications. All children of MPS mothers were born healthy without malformations. Weight, height and head circumference of the newborns were below the 50th percentile. ERT during pregnancy seems to have no negative impact on the fetal development.