Clinical profile of Laron dwarfism – experience from a tertiary care institute in Chennai

Chidambaram Sethuraman; Seenivasan Venkatasamy

doi:10.1515/jpem-2022-0538

Article

Clinical profile of Laron dwarfism – experience from a tertiary care institute in Chennai

Chidambaram Sethuraman and Seenivasan Venkatasamy

Published/Copyright: March 23, 2023

Published by

Become an author with De Gruyter Brill

Submit Manuscript Author Information Explore this Subject

From the journal Journal of Pediatric Endocrinology and Metabolism Volume 36 Issue 5

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.

Keywords: GH resistance; high basal GH level; Laron dwarfism; low IGF-1

Corresponding author: Chidambaram Sethuraman, Department of Paediatrics, Institute of Child Health and Hospital for Children, Tamil Salai, Egmore, Chennai, Tamil Nadu, 600008, India, E-mail: Chidambaram44@gmail.com

Research funding: None declared.
Author contributions: The authors have accepted responsibility for the entire content of this manuscript and approved its submission.
Competing interest: The authors state no conflict of interest.
Informed consent: Informed consent was obtained from the parents or legal guardians.
Ethical approval: Not applicable.

References

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.Search in Google Scholar

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.Search in Google Scholar PubMed

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.Search in Google Scholar PubMed

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.Search in Google Scholar PubMed PubMed Central

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.Search in Google Scholar

6. Kliegman, RM, Behrman, RE, Jenson, HB, Stanton, BF. Growth hormone insensitivity. In: Nelson’s textbook of pediatrics, 20th ed. Philadelphia: Elsevier; 2015, vol, 2:2641 p.Search in Google Scholar

7. Savage, MO, Attie, KM, David, A, Metherell, LA, Clark, AJ, Camacho-Hübner, C. Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders. Nat Rev Endocrinol 2006;2:395–407. https://doi.org/10.1038/ncpendmet0195.Search in Google Scholar PubMed

8. Laron, Z, Lilos, P, Klinger, B. Growth curves for Laron syndrome. Arch Dis Child 1993;68:768–70. https://doi.org/10.1136/adc.68.6.768.Search in Google Scholar PubMed PubMed Central

9. Burren, CP, Woods, KA, Rose, SJ, Tauber, M, Price, DA, Heinrich, U, et al.. Clinical and endocrine characteristics in atypical and classical growth hormone insensitivity syndrome. Horm Res 2001;55:125–30. https://doi.org/10.1159/000049983.Search in Google Scholar PubMed

10. Savage, MO, Blum, WF, Ranke, MB, Postel-Vinay, MC, Cotterill, AM, Hall, K, et al.. Clinical features and endocrine status in patients with growth hormone insensitivity (Laron syndrome). J Clin Endocrinol Metabol 1993;77:1465–71. https://doi.org/10.1210/jc.77.6.1465.Search in Google Scholar

11. Laron, Z, Sarel, R, Pertzelan, A. Puberty in Laron-type dwarfism. Eur J Pediatr 1980;134:79–83. https://doi.org/10.1007/bf00442408.Search in Google Scholar

12. Hellstrom, A, Carlsson, B, Niklasson, A, Segnestam, K, Boguszewski, M, de Lacerda, L, et al.. IGF-I is critical for normal vascularization of the human retina. J Clin Endocrinol Metabol 2002;87:3413–6. https://doi.org/10.1210/jc.87.7.3413.Search in Google Scholar

13. Klinger, B, Ionesco, A, Anin, S, Laron, Z. Effect of insulin-like growth factor I on the thyroid axis in patients with Laron-type dwarfism and healthy subjects. Acta Endocrinol 1992;127:515–9. https://doi.org/10.1530/acta.0.1270515.Search in Google Scholar PubMed

14. Coutant, R, Dörr, HG, Gleeson, H, Argente, J. Diagnosis of endocrine disease: limitations of the IGF1 generation test in children with short stature. Eur J Endocrinol 2012;166:351–7. https://doi.org/10.1530/eje-11-0618.Search in Google Scholar

15. Laron, Z. The GH-IGF1 axis and longevity. The paradigm of IGF1 deficiency. Hormones (Basel) 2008;7:24–7. https://doi.org/10.14310/horm.2002.1111034.Search in Google Scholar PubMed

16. Laron, Z. Consequences of not treating children with Laron syndrome (primary growth hormone insensitivity). J Pediatr Endocrinol Metab 2001;14:1243–8.Search in Google Scholar

Received: 2022-10-22

Accepted: 2023-02-27

Published Online: 2023-03-23

Published in Print: 2023-05-25

You are currently not able to access this content.

Articles in the same Issue

https://doi.org/10.1515/jpem-2022-0538

Keywords for this article

GH resistance; high basal GH level; Laron dwarfism; low IGF-1