Cargando…

Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome

Wiedemann–Steiner Syndrome (WSS) is a rare condition characterised by short stature, hypertrichosis of the elbow, intellectual disability and characteristic facial dysmorphism due to heterozygous loss of function mutations in KMT2A, a gene encoding a histone 3 lysine 4 methyltransferase. Children wi...

Descripción completa

Detalles Bibliográficos
Autores principales: Stoyle, George, Banka, Siddharth, Langley, Claire, Jones, Elizabeth A, Banerjee, Indraneel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bioscientifica Ltd 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109209/
https://www.ncbi.nlm.nih.gov/pubmed/30159147
http://dx.doi.org/10.1530/EDM-18-0085
_version_ 1783350283992039424
author Stoyle, George
Banka, Siddharth
Langley, Claire
Jones, Elizabeth A
Banerjee, Indraneel
author_facet Stoyle, George
Banka, Siddharth
Langley, Claire
Jones, Elizabeth A
Banerjee, Indraneel
author_sort Stoyle, George
collection PubMed
description Wiedemann–Steiner Syndrome (WSS) is a rare condition characterised by short stature, hypertrichosis of the elbow, intellectual disability and characteristic facial dysmorphism due to heterozygous loss of function mutations in KMT2A, a gene encoding a histone 3 lysine 4 methyltransferase. Children with WSS are often short and until recently, it had been assumed that short stature is an intrinsic part of the syndrome. GHD has recently been reported as part of the phenotypic spectrum of WSS. We describe the case of an 8-year-old boy with a novel heterozygous variant in KMT2A and features consistent with a diagnosis of WSS who also had growth hormone deficiency (GHD). GHD was diagnosed on dynamic function testing for growth hormone (GH) secretion, low insulin-like growth factor I (IGF-I) levels and pituitary-specific MRI demonstrating anterior pituitary hypoplasia and an ectopic posterior pituitary. Treatment with GH improved height performance with growth trajectory being normalised to the parental height range. Our case highlights the need for GH testing in children with WSS and short stature as treatment with GH improves growth trajectory. LEARNING POINTS: Growth hormone deficiency might be part of the phenotypic spectrum of Wiedemann–Steiner Syndrome (WSS). Investigation of pituitary function should be undertaken in children with WSS and short stature. A pituitary MR scan should be considered if there is biochemical evidence of growth hormone deficiency (GHD). Recombinant human growth hormone treatment should be considered for treatment of GHD.
format Online
Article
Text
id pubmed-6109209
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher Bioscientifica Ltd
record_format MEDLINE/PubMed
spelling pubmed-61092092018-08-29 Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome Stoyle, George Banka, Siddharth Langley, Claire Jones, Elizabeth A Banerjee, Indraneel Endocrinol Diabetes Metab Case Rep Unique/Unexpected Symptoms or Presentations of a Disease Wiedemann–Steiner Syndrome (WSS) is a rare condition characterised by short stature, hypertrichosis of the elbow, intellectual disability and characteristic facial dysmorphism due to heterozygous loss of function mutations in KMT2A, a gene encoding a histone 3 lysine 4 methyltransferase. Children with WSS are often short and until recently, it had been assumed that short stature is an intrinsic part of the syndrome. GHD has recently been reported as part of the phenotypic spectrum of WSS. We describe the case of an 8-year-old boy with a novel heterozygous variant in KMT2A and features consistent with a diagnosis of WSS who also had growth hormone deficiency (GHD). GHD was diagnosed on dynamic function testing for growth hormone (GH) secretion, low insulin-like growth factor I (IGF-I) levels and pituitary-specific MRI demonstrating anterior pituitary hypoplasia and an ectopic posterior pituitary. Treatment with GH improved height performance with growth trajectory being normalised to the parental height range. Our case highlights the need for GH testing in children with WSS and short stature as treatment with GH improves growth trajectory. LEARNING POINTS: Growth hormone deficiency might be part of the phenotypic spectrum of Wiedemann–Steiner Syndrome (WSS). Investigation of pituitary function should be undertaken in children with WSS and short stature. A pituitary MR scan should be considered if there is biochemical evidence of growth hormone deficiency (GHD). Recombinant human growth hormone treatment should be considered for treatment of GHD. Bioscientifica Ltd 2018-08-23 /pmc/articles/PMC6109209/ /pubmed/30159147 http://dx.doi.org/10.1530/EDM-18-0085 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 Unique/Unexpected Symptoms or Presentations of a Disease
Stoyle, George
Banka, Siddharth
Langley, Claire
Jones, Elizabeth A
Banerjee, Indraneel
Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome
title Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome
title_full Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome
title_fullStr Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome
title_full_unstemmed Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome
title_short Growth hormone deficiency as a cause for short stature in Wiedemann–Steiner Syndrome
title_sort growth hormone deficiency as a cause for short stature in wiedemann–steiner syndrome
topic Unique/Unexpected Symptoms or Presentations of a Disease
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109209/
https://www.ncbi.nlm.nih.gov/pubmed/30159147
http://dx.doi.org/10.1530/EDM-18-0085
work_keys_str_mv AT stoylegeorge growthhormonedeficiencyasacauseforshortstatureinwiedemannsteinersyndrome
AT bankasiddharth growthhormonedeficiencyasacauseforshortstatureinwiedemannsteinersyndrome
AT langleyclaire growthhormonedeficiencyasacauseforshortstatureinwiedemannsteinersyndrome
AT joneselizabetha growthhormonedeficiencyasacauseforshortstatureinwiedemannsteinersyndrome
AT banerjeeindraneel growthhormonedeficiencyasacauseforshortstatureinwiedemannsteinersyndrome