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Clinical profile of Laron dwarfism - experience from a tertiary care institute in Chennai
Chidambaram Sethuraman1, Seenivasan Venkatasamy1
1Department of Paediatrics, Institute of Child Health and Hospital for Children, Chennai, Tamil Nadu, India.
Insights
Laron dwarfism, a rare condition causing extreme stunting, presents with low Insulin-like Growth Factor-1 (IGF-1) and high Growth Hormone (GH). Early suspicion is key for children exhibiting Growth Hormone Deficiency (GHD) symptoms.
Area of Science:
- Pediatrics
- Genetics
- Endocrinology
Background:
- Laron dwarfism is a rare genetic disorder.
- Approximately 350 cases reported globally.
- First identified in Israeli Jewish children.
Purpose of the Study:
- Describe the clinical profile of nine children with Laron dwarfism.
- Analyze cases from the Institute of Child Health, Chennai.
Main Methods:
- Retrospective analysis of case records.
- Study period: 2010 to 2018.
Main Results:
- Nine children diagnosed with Laron dwarfism (6 males, 3 females).
- Mean age at diagnosis: 3 years; mean height Z-score: -7.7.
- All presented with extreme short stature, low IGF-1, high GH, characteristic facies; microcephaly and micropenis observed in some.
Conclusions:
- High suspicion of Laron syndrome is warranted in children with features of Growth Hormone Deficiency (GHD) and extreme stunting.
- Clinical presentation includes specific facial features and biochemical markers.
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.
