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Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome

Growth anomaly is a prominent feature in Wolf-Hirschhorn syndrome (WHS), a rare congenital disorder caused by variable deletion of chromosome 4p. While growth charts have been developed for WHS patients 0–4 years of age and growth data available for Japanese WHS patients 0–17 years, information on p...

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Autores principales: Siew, Jia Xuan, Yap, Fabian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5900798/
https://www.ncbi.nlm.nih.gov/pubmed/29675261
http://dx.doi.org/10.1530/EDM-18-0001
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author Siew, Jia Xuan
Yap, Fabian
author_facet Siew, Jia Xuan
Yap, Fabian
author_sort Siew, Jia Xuan
collection PubMed
description Growth anomaly is a prominent feature in Wolf-Hirschhorn syndrome (WHS), a rare congenital disorder caused by variable deletion of chromosome 4p. While growth charts have been developed for WHS patients 0–4 years of age and growth data available for Japanese WHS patients 0–17 years, information on pubertal growth and final height among WHS children remain lacking. Growth hormone (GH) therapy has been reported in two GH-sufficient children with WHS, allowing for pre-puberty catch up growth; however, pubertal growth and final height information was also unavailable. We describe the complete growth journey of a GH-sufficient girl with WHS from birth until final height (FH), in relation to her mid parental height (MPH) and target range (TR). Her growth trajectory and pubertal changes during childhood, when she was treated with growth hormone (GH) from 3 years 8 months old till 6 months post-menarche at age 11 years was fully detailed. LEARNING POINTS: Pubertal growth characteristics and FH information in WHS is lacking. While pre-pubertal growth may be improved by GH, GH therapy may not translate to improvement in FH in WHS patients. Longitudinal growth, puberty and FH data of more WHS patients may improve the understanding of growth in its various phases (infancy/childhood/puberty).
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spelling pubmed-59007982018-04-19 Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome Siew, Jia Xuan Yap, Fabian Endocrinol Diabetes Metab Case Rep Insight into Disease Pathogenesis or Mechanism of Therapy Growth anomaly is a prominent feature in Wolf-Hirschhorn syndrome (WHS), a rare congenital disorder caused by variable deletion of chromosome 4p. While growth charts have been developed for WHS patients 0–4 years of age and growth data available for Japanese WHS patients 0–17 years, information on pubertal growth and final height among WHS children remain lacking. Growth hormone (GH) therapy has been reported in two GH-sufficient children with WHS, allowing for pre-puberty catch up growth; however, pubertal growth and final height information was also unavailable. We describe the complete growth journey of a GH-sufficient girl with WHS from birth until final height (FH), in relation to her mid parental height (MPH) and target range (TR). Her growth trajectory and pubertal changes during childhood, when she was treated with growth hormone (GH) from 3 years 8 months old till 6 months post-menarche at age 11 years was fully detailed. LEARNING POINTS: Pubertal growth characteristics and FH information in WHS is lacking. While pre-pubertal growth may be improved by GH, GH therapy may not translate to improvement in FH in WHS patients. Longitudinal growth, puberty and FH data of more WHS patients may improve the understanding of growth in its various phases (infancy/childhood/puberty). Bioscientifica Ltd 2018-04-12 /pmc/articles/PMC5900798/ /pubmed/29675261 http://dx.doi.org/10.1530/EDM-18-0001 Text en © 2018 The authors http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en_GB This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License (http://creativecommons.org/licenses/by-nc-nd/3.0/deed.en_GB) .
spellingShingle Insight into Disease Pathogenesis or Mechanism of Therapy
Siew, Jia Xuan
Yap, Fabian
Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome
title Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome
title_full Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome
title_fullStr Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome
title_full_unstemmed Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome
title_short Growth trajectory and pubertal tempo from birth till final height in a girl with Wolf-Hirschhorn syndrome
title_sort growth trajectory and pubertal tempo from birth till final height in a girl with wolf-hirschhorn syndrome
topic Insight into Disease Pathogenesis or Mechanism of Therapy
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5900798/
https://www.ncbi.nlm.nih.gov/pubmed/29675261
http://dx.doi.org/10.1530/EDM-18-0001
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