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open access

Vol 74, No 3 (2023)
Original paper
Submitted: 2022-12-05
Accepted: 2023-03-11
Published online: 2023-06-12
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The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome

Anna Świąder-Leśniak1, Dorota Jurkiewicz2, Honorata Kołodziejczyk1, Agata Kozłowska3, Alicja Korpysz3, Mieczysław Szalecki34, Krystyna Chrzanowska2
DOI: 10.5603/EP.a2023.0042
·
Pubmed: 37335065
·
Endokrynol Pol 2023;74(3):285-293.
Affiliations
  1. Laboratory of Anthropology, The Children’s Memorial Health Institute, Warsaw, Poland
  2. Department of Medical Genetics, The Children’s Memorial Health Institute, Warsaw, Poland
  3. Department of Endocrinology and Diabetology, The Children’s Memorial Health Institute, Warsaw, Poland
  4. Collegium Medicum, Jan Kochanowski University of Kielce, Kielce, Poland

open access

Vol 74, No 3 (2023)
Original Paper
Submitted: 2022-12-05
Accepted: 2023-03-11
Published online: 2023-06-12

Abstract

Introduction: Silver-Russell syndrome (SRS) is characterized by clinical and genetic heterogeneity. SRS is the only disease entity associated with (epi)genetic abnormalities of 2 different chromosomes: 7 and 11. In SRS, the 2 most frequent molecular abnormalities are hypomethylation (loss of methylation) of region H19/IGF2:IG-DMR on chromosome 11p15.5 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (upd(7)mat). Therapy with recombinant human growth hormone (rhGH) is implemented to increase body height in children with SRS. The effect of the administered rhGH on height, weight, body mass index (BMI), body composition, and height velocity in patients with SRS during 3 years of rhGH therapy was analysed.

Material and methods: 31 SRS patients (23 with 11p15 LOM, 8 with upd(7)mat) and 16 patients small for gestational age (SGA) as a control group were diagnosed and followed up in The Children’s Memorial Health Institute. Patients were eligible for the 2 Polish rhGH treatment programmes [for patients with SGA or with growth hormone deficiency (GHD)]. Anthropometric parameters were collected in all patients. Body composition using bioelectrical impedance was measured in 13 SRS and 14 SGA patients.

Results: Height, weight, and weight for height (SDS) at baseline of rhGH therapy were lower in SRS patients than in the SGA control group: –3.3 ± 1.2 vs. -2.6 ± 06 (p = 0.012), –2.5 vs. -1.9 (p = 0.037), –1.7 vs. –1.1 (p = 0.038), respectively. Height SDS was increased from –3.3 ± 1.2 to –1.8 ± 1.0 and from –2.6 ± 0.6 to –1.3 ± 0.7 in the SRS and SGA groups, respectively. Patients with 11p15 LOM and upd(7)
mat achieved similar height, 127.0 ± 15.7 vs. 128.9 ± 21.6 cm, and –2.0 ± 1.3 vs. –1.7 ± 1.0 SDS, respectively. Fat mass percentage decreased in SRS patients from 4.2% to 3.0% (p < 0.05) and in SGA patients from 7.6% to 6.6% (p < 0.05).

Conclusions: Growth hormone therapy has a positive influence on the growth of SRS patients. Regardless of molecular abnormality type (11p15 LOM vs. upd(7)mat), height velocity was similar in SRS patients during 3 years of rhGH therapy.

Abstract

Introduction: Silver-Russell syndrome (SRS) is characterized by clinical and genetic heterogeneity. SRS is the only disease entity associated with (epi)genetic abnormalities of 2 different chromosomes: 7 and 11. In SRS, the 2 most frequent molecular abnormalities are hypomethylation (loss of methylation) of region H19/IGF2:IG-DMR on chromosome 11p15.5 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (upd(7)mat). Therapy with recombinant human growth hormone (rhGH) is implemented to increase body height in children with SRS. The effect of the administered rhGH on height, weight, body mass index (BMI), body composition, and height velocity in patients with SRS during 3 years of rhGH therapy was analysed.

Material and methods: 31 SRS patients (23 with 11p15 LOM, 8 with upd(7)mat) and 16 patients small for gestational age (SGA) as a control group were diagnosed and followed up in The Children’s Memorial Health Institute. Patients were eligible for the 2 Polish rhGH treatment programmes [for patients with SGA or with growth hormone deficiency (GHD)]. Anthropometric parameters were collected in all patients. Body composition using bioelectrical impedance was measured in 13 SRS and 14 SGA patients.

Results: Height, weight, and weight for height (SDS) at baseline of rhGH therapy were lower in SRS patients than in the SGA control group: –3.3 ± 1.2 vs. -2.6 ± 06 (p = 0.012), –2.5 vs. -1.9 (p = 0.037), –1.7 vs. –1.1 (p = 0.038), respectively. Height SDS was increased from –3.3 ± 1.2 to –1.8 ± 1.0 and from –2.6 ± 0.6 to –1.3 ± 0.7 in the SRS and SGA groups, respectively. Patients with 11p15 LOM and upd(7)
mat achieved similar height, 127.0 ± 15.7 vs. 128.9 ± 21.6 cm, and –2.0 ± 1.3 vs. –1.7 ± 1.0 SDS, respectively. Fat mass percentage decreased in SRS patients from 4.2% to 3.0% (p < 0.05) and in SGA patients from 7.6% to 6.6% (p < 0.05).

Conclusions: Growth hormone therapy has a positive influence on the growth of SRS patients. Regardless of molecular abnormality type (11p15 LOM vs. upd(7)mat), height velocity was similar in SRS patients during 3 years of rhGH therapy.

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Keywords

Silver-Russell syndrome; genomic imprinting; uniparental disomy; growth hormone; body composition

About this article
Title

The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome

Journal

Endokrynologia Polska

Issue

Vol 74, No 3 (2023)

Article type

Original paper

Pages

285-293

Published online

2023-06-12

Page views

1542

Article views/downloads

469

DOI

10.5603/EP.a2023.0042

Pubmed

37335065

Bibliographic record

Endokrynol Pol 2023;74(3):285-293.

Keywords

Silver-Russell syndrome
genomic imprinting
uniparental disomy
growth hormone
body composition

Authors

Anna Świąder-Leśniak
Dorota Jurkiewicz
Honorata Kołodziejczyk
Agata Kozłowska
Alicja Korpysz
Mieczysław Szalecki
Krystyna Chrzanowska

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