scholarly journals 17p13.1 Microduplication Syndrome in a Child, Familial Short Stature, and Growth Hormone Deficiency: A Case Report and Review of the Literature

2018 ◽  
Vol 9 (6) ◽  
pp. 300-305 ◽  
Author(s):  
Sofia Leka-Emiri ◽  
Vassilios Petrou ◽  
Emmanouil Manolakos ◽  
Loretta Thomaidis ◽  
Aspasia Fotinou ◽  
...  
2021 ◽  
Vol 8 (5) ◽  
pp. 944
Author(s):  
Thanuja B. ◽  
Ashok V. Puttappanavar ◽  
Meghana Narasimhegowda ◽  
Namratha K. B. ◽  
Prashanth S.

Recurrent hypoglycemia in childhood may be caused by various endocrine or metabolic disorders, of which growth hormone deficiency is a rare cause. A 5-year-old girl presented to us with short stature and recurrent episodes of hypoglycemic seizures. On evaluating for the same, critical sample showed normal cortisol and low c-peptide levels. Neuroimaging ruled out pituitary anomalies. Growth hormone deficiency was diagnosed after GH stimulation test (with clonidine and insulin) revealed low basal and post-stimulation values. Following GH supplementation, no further hypoglycemia was noted. This rare case is being reported to highlight the importance of treating the underlying etiology of hypoglycemia to prevent adverse neurological outcome.


Gene ◽  
2013 ◽  
Vol 529 (1) ◽  
pp. 186-189 ◽  
Author(s):  
Cláudia Melo ◽  
Susana Gama-de-Sousa ◽  
Filipa Almeida ◽  
Paula Rendeiro ◽  
Purificação Tavares ◽  
...  

2011 ◽  
Vol 31 (2) ◽  
pp. 134-136
Author(s):  
A Devkota ◽  
Satyam Upadhyay

Growth hormone is an anabolic hormone released in pulsatile manner in the circulation. It is one of the uncommon causes of short stature in children and is largely idiopathic. The case report is about a 12 years old boy who presented with short stature. He was diagnosed to have Growth hormone deficiency. Growth hormone was started after diagnosis was made. Key words: Growth hormone; pituitary. DOI: 10.3126/jnps.v31i2.3260 J Nep Paedtr Soc 2010;31(2):134-136


PEDIATRICS ◽  
1998 ◽  
Vol 102 (Supplement_3) ◽  
pp. 524-526
Author(s):  
Raymond L. Hintz

The use of auxologic measurements in the diagnosis of short stature in children has a long history in pediatric endocrinology, and they have even been used as the primary criteria in selecting children for growth hormone (GH) therapy. Certainly, an abnormality in the control of growth is more likely in short children than in children of normal stature. However, most studies have shown little or no value of auxologic criteria in differentiating short children who have classic growth hormone deficiency (GHD) from short children who do not. In National Cooperative Growth Study Substudy VI, in more than 6000 children being assessed for short stature, the overall mean height SD score was −2.5 ± 1.1 and the body mass index standard deviation score was −0.5 ± 1.4. However, there were no significant differences in these measures between the patients who were found subsequently to have GHD and those who were not. There also was no consistent difference in the growth rates between the patients with classic GHD and those short children without a diagnosis of GHD. This probably reflects the fact that we are dealing with a selected population of children who were referred for short stature and are further selecting those who are the shortest for additional investigation. Growth factor measurements have been somewhat more useful in selecting patients with GHD and have been proposed as primary diagnostic criteria. However, in National Cooperative Growth Study Substudy VI, only small differences in the levels of insulin-like growth factor I and insulin-like growth factor binding protein 3 were seen between the patients who were selected for GH treatment and those who were not. Many studies indicate that the primary value of growth factor measurements is to exclude patients who are unlikely to have GHD or to identify those patients in whom an expedited work-up should be performed. The diagnosis of GHD remains difficult and must be based on all of the data possible and the best judgment of an experienced clinician. Even under ideal circumstances, errors of both overdiagnosis and underdiagnosis of GHD still are likely.


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