Journal of Postgraduate Medicine
 Open access journal indexed with Index Medicus & ISI's SCI  
Users online: 528  
Home | Subscribe | Feedback | Login 
About Latest Articles Back-Issues Article Submission Resources Sections Etcetera Contact
 
  NAVIGATE Here 
  Search
 
  
 RESOURCE Links
 ::  Similar in PUBMED
 ::  Article in PDF (1,779 KB)
 ::  Citation Manager
 ::  Access Statistics
 ::  Reader Comments
 ::  Email Alert *
 ::  Add to My List *
* Registration required (free) 

  IN THIS Article
 ::  References
 ::  Article Figures

 Article Access Statistics
    Viewed3165    
    Printed87    
    Emailed0    
    PDF Downloaded22    
    Comments [Add]    

Recommend this journal


 


 
  Table of Contents     
IMAGES IN MEDICINE
Year : 2014  |  Volume : 60  |  Issue : 3  |  Page : 322-323

Laron syndrome


1 Department of Pediatrics, Dr. Rajendra Prasad Government Medical College, Kangra, Himachal Pradesh, India
2 Department of Pediatrics, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India

Date of Web Publication14-Aug-2014

Correspondence Address:
Dr. S Guleria
Department of Pediatrics, Dr. Rajendra Prasad Government Medical College, Kangra, Himachal Pradesh
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


Read associated Erratum: Erratum: Laron syndrome with this article

DOI: 10.4103/0022-3859.138816

Rights and Permissions




How to cite this article:
Guleria S, Sharma J, Kaushik S L. Laron syndrome. J Postgrad Med 2014;60:322-3

How to cite this URL:
Guleria S, Sharma J, Kaushik S L. Laron syndrome. J Postgrad Med [serial online] 2014 [cited 2019 Jun 16];60:322-3. Available from: http://www.jpgmonline.com/text.asp?2014/60/3/322/138816


Sir,

Laron syndome is named after Zvi Laron, the Israeli researcher who first reported this condition in 1966. It is a rare genetic disease where the body has sufficient growth hormones but lacks receptors to utilize the hormone and, hence, dwarfism results. [1] We present a brief description of two patients of this rare disease and attempt to highlight the need for early diagnosis and treatment.

A male child aged 7 years and 7 months, a product of non-consanguineous marriage, was born at term by vaginal delivery at home, and cried immediately after birth. He was admitted with the complaint of not growing well since the age of 1 year. Birth weight, though unrecorded, was comparable with peers. There was no history suggestive of birth asphyxia, neonatal seizures, or neonatal jaundice. Child grew well in height and weight till a year of age, but subsequent growth was retarded. There was no history suggestive of any chronic systemic illness. Father and mother are of Aryan sub-race of Caucasian ethnicity, with heights of 168 cm and 152 cm, respectively. There was no family history of any chronic organic, infective, or metabolic illness. Developmentally the child was normal. His weight was 8 kg (expected weight 21 kg) and he was severely malnourished. His height was 71.5 cm (<−3 SD), he was severely stunted [Figure 1], and his weight for height was normal (88%). Upper segment: Lower segment ratio was 1.2:1, linear growth arrested around 1 year of age, arm span was 70 cm, mid arm circumference was 14.5 cm, and head circumference was 46.5 cm (<−3 SD). Frontal prominence was present, hairs were silky and sparse, nasal bridge was depressed, and ears were low set. Crowding of teeth was present [Figure 2] and the scrotum was hypoplastic [Figure 3]. Right testis was undescended. Penile size was 2.0 cm in length (normal 6.2 ± 1). Complete blood counts and renal and liver function tests were within normal limits. Fasting blood glucose, serum electrolytes, and blood pH were normal. X-ray of wrist revealed a bone age at 2 years [Figure 4]. Thyroid function tests (TFTs) were within normal limits. Growth hormone level (after insulin provocation) was elevated (119 ng/ml). But serum insulin-like growth factor-1 (IGF-1) level was 37 ng/ml, which was much below the reference range (109-284 ng/ml).
Figure 1: Laron growth curve of height of both siblings

Click here to view
Figure 2: Facial features and dentition in the first child

Click here to view
Figure 3: Infantile genitalia in the first child

Click here to view
Figure 4: Delayed bone age in the first child

Click here to view
Figure 5: Facial features and dentition in the second child

Click here to view
Figure 6: Infantile genitalia in the second child

Click here to view
Figure 7: Delayed bone age in the second child

Click here to view


The second patient was the only sibling of the first patient. It was a 5.5-year-old male child who was admitted with similar complaints of not growing well since the age of 1.5 years, with similar history and clinical features of depressed nasal bridge, crowded teeth [Figure 5], sparse hair, and infantile genitalia [Figure 6] He was also severely stunted with a height of 72.5 cm (<−3 SD); weight for height, upper segment and lower segment ratio, and arm span were normal. Head circumference of the child was 46 cm (<−3 SD). All investigations in this child were normal except delayed bone age (2 years) [Figure 7], raised growth hormone level (after provocation) of 98 ng/ml, and low level of IGF-1 (42 ng/ml).

Laron-type dwarfism is an autosomal recessive genetic disorder caused by a defect in the growth hormone receptor (GHR). [2],[3] The diagnosis of Laron syndrome (LS) in these siblings was based on the characteristic clinical features; [1],[2],[3],[4] the high serum values of growth hormone, and the low IGF-I serum levels after stimulation. Both children had clinical features of growth hormone deficiency, but when investigated, they showed a high level of growth hormone and low serum level of IGF-1. Laron-type dwarfism can result from a defect in the structural gene for the GHR. [2],[3] In the following years, patients from many parts of the world were investigated, with defects of the GHR such as exon deletions to nonsense, frameshift, splice, and missense mutations of exons and introns. [1],[3],[4] Molecular study for GHRs could not be done in these siblings due to financial constraints. Treatment consists of administration of recombinant human IGF-1, frequent meals to avoid hypoglycemia (especially during infancy), regular monitoring of growth and development, and regular monitoring of blood sugar levels and adverse effects of IGF-1 therapy. [1],[3]

 
 :: References Top

1.
Laron Z. Laron syndrome (primary growth hormone resistance or insensitivity): The personal experience 1958-2003. J Clin Endocrinol Metab 2004;89:1031-44.  Back to cited text no. 1
[PUBMED]    
2.
Laron Z, Kopchick JJ, editors. Laron Syndrome from Man to Mouse. Heidelberg, New York: Springer; 2011. p. 495-502.  Back to cited text no. 2
    
3.
Parks JS, Felner EI. Growth hormone insensitivity. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, editors. Nelson Textbook of Pediatrics: The Fetus and the Neonatal Infant. Vol. 1. 18 th ed. Philadelphia: WB Saunders Company; 2007. p. 2296-8.  Back to cited text no. 3
    
4.
Galli-Tsinopoulou A, Nousia-Arvanitakis S, Tsinopoulos I, Bechlivanides C, Shevah O, Laron Z. Laron syndrome: First report from Greece. Hormones (Athens) 2003;2:120-4.  Back to cited text no. 4
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7]



 

Top
Print this article  Email this article
 
Online since 12th February '04
2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow