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Growth hormone improves short-term growth in patients with Temple Syndrome

Growth hormone improves short-term growth in patients with Temple Syndrome
Growth hormone improves short-term growth in patients with Temple Syndrome
Background/Aims: Temple syndrome is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (mat UPD 14), paternal deletion of 14q32 or paternal hypomethylation of the intergenic differentially methylated region (MEG3/DLK1 IG-DMR). Patients with Temple syndrome have pre- and postnatal growth restriction, short stature, hypotonia, small hands and feet and precocious puberty. We sought to determine whether treatment with growth hormone improves growth outcomes in patients with Temple syndrome.

Methods: this was a retrospective observational study reviewing the medical records of 14 patients with Temple syndrome, 7 of whom were treated with growth hormone.

Results: after one year of growth hormone treatment, the height standard deviation score (SDS) increased a median of 1.31 SDS with a median increased height velocity of 5.30 cm/yr.

Conclusions: these results suggest short-term improvement in height SDS with growth hormone treatment similar to the response in patients treated under the small for gestational age indication. We recommend considering growth hormone therapy in all patients with Temple syndrome who have short stature
1663-2818
407-413
Brightman, Diana S.
cdde5ce8-dce8-4f3a-b0a4-51a584e0e52e
Lokulo-Sodipe, Oluwakemi
d428f857-0e58-4964-b1f0-136af7432805
Searle, Beverly A.
a2772782-1652-49e9-b559-ce8b19173a6f
Mackay, Deborah
588a653e-9785-4a00-be71-4e547850ee4a
Davies, Justin
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Temple, Isabel
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Dauber, Andrew
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Brightman, Diana S.
cdde5ce8-dce8-4f3a-b0a4-51a584e0e52e
Lokulo-Sodipe, Oluwakemi
d428f857-0e58-4964-b1f0-136af7432805
Searle, Beverly A.
a2772782-1652-49e9-b559-ce8b19173a6f
Mackay, Deborah
588a653e-9785-4a00-be71-4e547850ee4a
Davies, Justin
9f18fcad-f488-4c72-ac23-c154995443a9
Temple, Isabel
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Dauber, Andrew
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Brightman, Diana S., Lokulo-Sodipe, Oluwakemi, Searle, Beverly A., Mackay, Deborah, Davies, Justin, Temple, Isabel and Dauber, Andrew (2019) Growth hormone improves short-term growth in patients with Temple Syndrome. Hormone Research in Paediatrics, 90 (6), 407-413. (doi:10.1159/000496700).

Record type: Article

Abstract

Background/Aims: Temple syndrome is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (mat UPD 14), paternal deletion of 14q32 or paternal hypomethylation of the intergenic differentially methylated region (MEG3/DLK1 IG-DMR). Patients with Temple syndrome have pre- and postnatal growth restriction, short stature, hypotonia, small hands and feet and precocious puberty. We sought to determine whether treatment with growth hormone improves growth outcomes in patients with Temple syndrome.

Methods: this was a retrospective observational study reviewing the medical records of 14 patients with Temple syndrome, 7 of whom were treated with growth hormone.

Results: after one year of growth hormone treatment, the height standard deviation score (SDS) increased a median of 1.31 SDS with a median increased height velocity of 5.30 cm/yr.

Conclusions: these results suggest short-term improvement in height SDS with growth hormone treatment similar to the response in patients treated under the small for gestational age indication. We recommend considering growth hormone therapy in all patients with Temple syndrome who have short stature

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Temple Syndrome Manuscript HRP Second Revision Clean - Accepted Manuscript
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More information

Accepted/In Press date: 4 January 2019
e-pub ahead of print date: 5 March 2019
Published date: 1 April 2019

Identifiers

Local EPrints ID: 427341
URI: http://eprints.soton.ac.uk/id/eprint/427341
ISSN: 1663-2818
PURE UUID: 47047ad7-1cf1-46e9-97f0-5b080f32efc1
ORCID for Oluwakemi Lokulo-Sodipe: ORCID iD orcid.org/0000-0002-8169-3384
ORCID for Deborah Mackay: ORCID iD orcid.org/0000-0003-3088-4401
ORCID for Isabel Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 14 Jan 2019 17:30
Last modified: 26 Nov 2021 06:49

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Contributors

Author: Diana S. Brightman
Author: Oluwakemi Lokulo-Sodipe ORCID iD
Author: Beverly A. Searle
Author: Deborah Mackay ORCID iD
Author: Justin Davies
Author: Isabel Temple ORCID iD
Author: Andrew Dauber

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