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Table 5 Studies assessing growth retardation and delayed puberty in adult and paediatric GD1 patients

From: Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review

Author (year)Study populationMain findings
Bembi et al., 1994 [11]9 paediatric GD1and GD3 patients, assessed before and after at least 12 months of ERTInitial growth retardation rate: 67%.
A growth recovery in all children with initial growth retardation after 12–24 months of ERT
Drelichman et al., 2007 [12]32 paediatric GD1 patients, including 5 with history of ERT interruptionInitial growth retardation rate: 80%.
100% growth recovery rate after 1 to 7 years of ERT.
60% of children experienced growth retardation after ERT interruption
Granovsky-Grisaru et al., 1995 [74]53 GD female patientsPuberty delay in two thirds of the patients without later infertility.
Growth retardation rate 2.8%
Ida et al., 1998 [9]Untreated GD1 patients, 23 children and 12 adultsSignificant exacerbation/deterioration of mean relative height and weight during 5-year follow-up.
Kaplan et al., 2006 [68]887 untreated GD1 paediatric patients34% of incidence of linear growth deceleration at the time of diagnosis.
Decreased median height compared to population standards in all age groups
Kauli et al., 2000 [65]57 paediatric GD1 patients, 63% on ERTGrowth retardation at age 3–5 years in 53% of subjects observed since early childhood while untreated.
59.6% prevalence of delayed puberty, linked with severity of the disease.
All patients, both treated and untreated, with growth and pubertal delay caught up full sexual development.
83.3% of all subject achieved a predicted final height.
A positive effect of splenectomy only on growth, not on puberty delay.
Mendelsohn et al., 2018 [73]41 GD1 adult patients, both treated and untreatedMean HSDS in the patients − 0.22.
No difference in achieving a target height between treated and non-treated subjects.
Noticeable effect of ERT on the improvement of growth retardation in prepubertal patient.
Decrease in final height in boys but not in girls regardless of ERT.
Delayed age at menarche in girls
Rite et al., 2002 [69]22 GD1 paediatric patients, evaluated before and after ERTLow levels of IGF and its binding proteins in treatment-naive patients.
Increase of IGF-1 after 12 ± 6.8 months of ERT.
IGF-I deficiency is linked with the disease severity.
Zevin et al., 1993 [10]34 paediatric pre-ERT GD1 patients; 9 patients assessed after at least 12 months of therapyGrowth retardation at presentation: 26% on or below the 3rd percentile for weight, and 30% so in height.
Growth retardation mostly in the youngest age group (2–5 years).
43% of patients with initial growth retardation increased their height percentile, 57% increased their weight percentile during ERT
  1. ERT enzyme replacement therapy; GD1 Gaucher disease type 1; HDSD height standard deviation score