Growth hormone treatment for short stature associated with duplication of the NSD1 Sotos syndrome gene

Show simple item record Bernhardt, Isaac T Gunn, Alistair J Carter, Philippa J 2021-08-17T02:45:13Z 2021-08-17T02:45:13Z 2021-3-5
dc.identifier.citation Endocrinology Diabetes and Metabolism Case Reports 2021 05 Mar 2021
dc.identifier.issn 2052-0573
dc.description.abstract <jats:title>Summary</jats:title> <jats:p><jats:italic>NSD1</jats:italic> deletions are associated with the Sotos syndrome, a syndrome of overgrowth in childhood without evidence of endocrine disturbance. Duplications involving the <jats:italic>NSD1</jats:italic> gene have been reported to be associated with a ‘reverse Sotos syndrome’ phenotype, characterised by short stature, microcephaly, dysmorphic features and developmental delay. A 2-year-old girl with short stature, dysmorphic features and developmental delay was found to have duplication of 5q32.2–5q32.3, which includes the <jats:italic>NSD1</jats:italic> gene. Growth hormone stimulation testing was normal. Growth hormone therapy was initiated at 5 years of age due to severe short stature and growth failure, with height 3.35 standard deviations (SDS) below the median. Growth velocity increased markedly, by +4.91 SDS in the first year of treatment. At the time of last follow-up at 9 years and 11 months, she had achieved a height within 1 SDS of the median. This is the first report of growth hormone therapy for the short stature associated with duplication of the <jats:italic>NSD1</jats:italic> gene, showing that despite normal pituitary function, exogenous growth hormone can dramatically improve linear growth.</jats:p> <jats:sec> <jats:title>Learning points</jats:title> <jats:list list-type="disc"> <jats:list-item> <jats:p>Sotos syndrome is a disorder of childhood overgrowth caused by <jats:italic>NSD1</jats:italic> deletions.</jats:p> </jats:list-item> <jats:list-item> <jats:p>Duplications involving <jats:italic>NSD1</jats:italic> cause a ‘reverse Sotos syndrome’ phenotype characterised by short stature and microcephaly.</jats:p> </jats:list-item> <jats:list-item> <jats:p>The contrasting phenotypes of <jats:italic>NSD1</jats:italic> deletions and duplications suggest a dose effect.</jats:p> </jats:list-item> <jats:list-item> <jats:p>Stimulated growth hormone secretion is normal in children with <jats:italic>NSD1</jats:italic> deletions and duplications.</jats:p> </jats:list-item> <jats:list-item> <jats:p>Growth hormone therapy can be very effective in children with <jats:italic>NSD1</jats:italic> duplications, comparable to the response seen in severe growth hormone deficiency.</jats:p> </jats:list-item> </jats:list> </jats:sec>
dc.language English
dc.publisher Bioscientifica
dc.relation.ispartofseries Endocrinology Diabetes and Metabolism Case Reports
dc.rights Items in ResearchSpace are protected by copyright, with all rights reserved, unless otherwise indicated. Previously published items are made available in accordance with the copyright policy of the publisher.
dc.subject Science & Technology
dc.subject Life Sciences & Biomedicine
dc.subject Endocrinology & Metabolism
dc.subject DELAY
dc.title Growth hormone treatment for short stature associated with duplication of the NSD1 Sotos syndrome gene
dc.type Journal Article
dc.identifier.doi 10.1530/edm-20-0033
pubs.issue 1
pubs.volume 2021 2021-07-21T03:48:30Z
dc.rights.holder Copyright: The author en
pubs.publication-status Published
dc.rights.accessrights en
pubs.subtype Article
pubs.subtype Journal
pubs.elements-id 846834
dc.identifier.eissn 2052-0573
pubs.number ARTN 200033

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