dc.contributor.author |
Bernhardt, Isaac T |
|
dc.contributor.author |
Gunn, Alistair J |
|
dc.contributor.author |
Carter, Philippa J |
|
dc.date.accessioned |
2021-08-17T02:45:13Z |
|
dc.date.available |
2021-08-17T02:45:13Z |
|
dc.date.issued |
2021-3-5 |
|
dc.identifier.citation |
Endocrinology Diabetes and Metabolism Case Reports 2021 05 Mar 2021 |
|
dc.identifier.issn |
2052-0573 |
|
dc.identifier.uri |
https://hdl.handle.net/2292/56047 |
|
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.rights.uri |
https://researchspace.auckland.ac.nz/docs/uoa-docs/rights.htm |
|
dc.rights.uri |
https://creativecommons.org/licenses/by-nc-nd/4.0/ |
|
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 |
|
dc.date.updated |
2021-07-21T03:48:30Z |
|
dc.rights.holder |
Copyright: The author |
en |
pubs.author-url |
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000626484600001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=6e41486220adb198d0efde5a3b153e7d |
|
pubs.publication-status |
Published |
|
dc.rights.accessrights |
http://purl.org/eprint/accessRights/OpenAccess |
en |
pubs.subtype |
Article |
|
pubs.subtype |
Journal |
|
pubs.elements-id |
846834 |
|
dc.identifier.eissn |
2052-0573 |
|
pubs.number |
ARTN 200033 |
|