Case report: Girl with short stature with no response to growth hormone treatment

2021 ◽  
Author(s):  
Gheorghe Elena Teodora ◽  
Albu Alice Ioana
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Short Stature ◽  
Growth Hormone Treatment ◽  
Hormone Treatment

scholarly journals First report on growth hormone treatment response in a patient with spondylodysplastic type of Ehlers-Danlos syndrome with normal growth hormone secretion

2021 ◽  
Vol 50 (1) ◽  
pp. 47-56
Author(s):  
Katarina Božić ◽  
Tatjana Milenković ◽  
Srđan Pašić ◽  
Katarina Mitrović ◽  
Slađana Todorović ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Case Report ◽  
Short Stature ◽  
Treatment Response ◽  
Growth Hormone Treatment ◽  
Hormone Treatment ◽  
Gh Treatment ◽  
Ehlers Danlos Syndrome ◽  
Gh Secretion ◽  
First Case

Introduction/Aim: Spondylodysplastic Ehlers-Danlos Syndrome (sdEDS) is a rare genetic disorder of collagen synthesis, caused by a mutation in the B4GALT7, B3GALT6, or SLC39A13 gene. Features of this very rare disorder are short stature, hypotonia, hyperflexible joints, soft, thin, and overly stretchable skin, sparse hair and eyebrows, elderly face, wide forehead and prolonged wound healing. Molecular genetic analysis is needed for definite confirmation of the diagnosis. So far, only three case reports describing growth hormone treatment response in patients with sdEDS have been published. All of these patients had growth hormone (GH) deficiency. We present the first case report regarding growth hormone treatment response in a patient with sdEDS and normal GH secretion (without GH deficiency). Case report: Patient was a girl with short stature and normal GH secretion. Having in mind that the girl was born small for the gestational age, due to her short stature, she started using HR, before the diagnosis of sdEDS was made. Based on the lack of improvement in growth velocity as well as the girl's phenotype, genetic analyses were performed and the diagnosis of sdEDS due to biallelic mutations of the B4GALT7 gene was established. After the diagnosis of sdEDS was made and due to suboptimal response in growth velocity to the GH treatment, the GH therapy was stopped at the age of 11 years. Conclusion: This is a first case report regarding GH treatment in a child with sdEDS and normal GH secretion, demonstrating a very limited therapeutic effect of GH on linear growth in the presented patient.

Growth hormone treatment in children with idiopathic short stature: correlation of growth response with peripheral thyroid hormone action

2011 ◽  
Vol 74 (3) ◽  
pp. 346-353 ◽  
Author(s):  
Sebastián Susperreguy ◽  
Liliana Muñoz ◽  
Natalia Y. Tkalenko ◽  
Ivan D. Mascanfroni ◽  
Vanina A. Alamino ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Thyroid Hormone ◽  
Short Stature ◽  
Growth Response ◽  
Growth Hormone Treatment ◽  
Hormone Treatment ◽  
Idiopathic Short Stature ◽  
Hormone Action ◽  
Thyroid Hormone Action

The effect of growth hormone treatment in idiopathic short stature with shox mutation

1998 ◽  
Vol 8 (4) ◽  
pp. 320
Author(s):  
P Vaguin ◽  
A Shanske ◽  
J Ellison ◽  
P Dowling ◽  
J Heinrich ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Growth Hormone Treatment ◽  
Hormone Treatment ◽  
Idiopathic Short Stature

scholarly journals Risk of Diabetes Treated in Early Adulthood After Growth Hormone Treatment of Short Stature in Childhood

2017 ◽  
Vol 102 (4) ◽  
pp. 1291-1298 ◽  
Author(s):  
Amélie Poidvin ◽  
Alain Weill ◽  
Emmanuel Ecosse ◽  
Joel Coste ◽  
Jean-Claude Carel
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Growth Hormone Treatment ◽  
Early Adulthood ◽  
Hormone Treatment

scholarly journals How sociophenomenology of the body problematises the ‘problem-oriented approach’ to growth hormone treatment

2018 ◽  
Vol 46 (1) ◽  
pp. 2-11
Author(s):  
Maria Cristina Murano ◽  
Jenny Slatman ◽  
Kristin Zeiler
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Lived Experience ◽  
Lived Experiences ◽  
Growth Hormone Treatment ◽  
Hormone Treatment ◽  
The Body ◽  
Psychological Assessments ◽  
Objective Space ◽  
Oriented Approach

This article examines how people who are shorter than average make sense of their lived experience of embodiment. It offers a sociophenomenological analysis of 10 semistructured interviews conducted in the Netherlands, focusing on if, how, and why height matters to them. It draws theoretically on phenomenological discussions of lived and objective space, intercorporeality and norms about bodies. The analysis shows that height as a lived phenomenon (1) is active engagement in space, (2) coshapes habituated ways of behaving and (3) is shaped by gendered norms and beliefs about height. Based on this analysis, the article challenges what we label as the ‘problem-oriented approach’ to discussions about growth hormone treatment for children with idiopathic short stature. In this approach, possible psychosocial disadvantages or problems of short stature and quantifiable height become central to the ethical evaluation of growth hormone treatment at the expense of first-hand lived experiences of short stature and height as a lived phenomenon. Based on our sociophenomenological analysis, this paper argues that the rationale for giving growth hormone treatment should combine medical and psychological assessments with investigations of lived experiences of the child. Such an approach would allow considerations not only of possible risks or disadvantages of short stature but also of the actual ways in which the child makes sense of her or his height.

Long-Term Mortality after Recombinant Growth Hormone Treatment for Isolated Childhood Short Stature: Report of the French SAGhE Study

2011 ◽  
pp. LB-5-LB-5 ◽  
Author(s):  
Jean-Claude Carel ◽  
Emmanuel Ecosse ◽  
Fabienne Landier ◽  
Djamila Meguellati-Hakkas ◽  
Florentia Kaguelidou ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Short Stature ◽  
Growth Hormone Treatment ◽  
Hormone Treatment ◽  
Recombinant Growth Hormone ◽  
Long Term Mortality
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