Affiliation:
1. Department of Paediatrics , Institute of Child Health and Hospital for Children , Chennai , Tamil Nadu , India
Abstract
Abstract
Objectives
Laron dwarfism is a rare genetic disorder first reported among Israeli jewish children, subsequently about 350 cases cases have been reported worldwide. We aim to describe the clinical profile of nine children with Laron dwarfism from Institute of Child Health, Chennai.
Methods
Analysis of case records from 2010 to 2018.
Results
Male:female ratio is 6:3. Mean age of the children at the time of diagnosis was 3 years. All children were extremely short, and mean height Z score (SD) was −7.7(0.8). All children had characteristic facies with no hypoglycaemic episodes. Microcephaly was present in four children out of which two had developmental delay. Three out of six boys had micropenis. All children had low insulin like growth factor-1 (IGF-1) and high basal growth hormone (GH) with a mean (SD) of 39.6 (11.2) ng/mL.
Conclusions
Suspicion of Laron syndrome should be high when child presents with features of Growth Hormone Deficiency (GHD) with extreme stunting.
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health
Reference16 articles.
1. Laron, Z, Pertzelan, A, Mannheimer, S. Genetic pituitary dwarfism with high serum concentration of growth hormone. A new inborn error of metabolism? Israel J Med Sci 1966;2:152–5.
2. Laron, Z. Laron syndrome (primary growth hormone resistance or insensitivity): the personal experience 1958–2003. J Clin Endocrinol Metab 2004;89:1031–44. https://doi.org/10.1210/jc.2003-031033.
3. Chakrabothy, PP, Basu, AK, Mandal, SK, Bandyopadhyay, D. Laron’s syndrome in two siblings. Indian J Pediatr 2007;74:870–1. https://doi.org/10.1007/s12098-007-0159-y.
4. Phanse-Gupte, SR, Khadilkar, VV, Khadilkar, AV. Clinical features and endocrine profile of Laron syndrome in Indian children. Indian J Endocrinol Metab 18:863–7. https://doi.org/10.4103/2230-8210.140236.
5. de Silva, KSH, Arundathi Jayasena, YA. Laron syndrome: a case report. Sri Lanka J Child Health 2011;40:179–80. https://doi.org/10.4038/sljch.v40i4.3848.