SHORT STATURE IN CHILDREN: GENETIC PROFILE

July 27, 2022
  • SIR GANGA RAM HOSPITAL study on : “Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India”

India

healthysoch

New Delhi, July 27, 2022:

This study adds:

Normal variation in adult height is largely due to inherited genetic factors. But, by contrast, at the extreme of short stature, patients often have mutations (changes) in single gene, resulting in large effects on the height.

In clinically undefined syndromes of short stature with development delay with dysmorphism, chromosomal microarray may be the first investigation of choice.

In familial (family genetic disorder) or idiopathic (unknown cause) short stature, Exome Sequencing may identify short stature syndromes.

A research study was conducted by Researchers from Institute of Genetics & Genomics, Sir Ganga Ram Hospital on “Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India” who presented to the hospital’s Genetic Clinic from 1st January 2017 to 31st October 2018 (22 months).

The study of 455 individuals, 10 months to 16 years of age, has been published on 15th June 2022 in ‘Indian Pediatrics’. All these individuals had height less than 3rd centile (only less than 3 out of 100 are shorter than this child).

According to Dr. Ratna Dua Puri, Chairperson, Institute of Medical Genetics & Genomics, Sir Ganga Ram Hospital, “In this study we tried to find and present the genetic spectrum of patients who were referred to our Genetic Clinic who had short stature as one of the presenting phenotypes.”

Dr Puri further added, “Genetics plays an important part in determining on individual’s height. Although there are many monogenic disorders (inherited disease controlled by fault in single gene) that lead to perturbations in growth and result in short stature, this study asserts the importance of a good clinical examination to enable correct diagnosis. We wanted to reiterate that amongst the armamentarium of genetic tests available, a clinical profile assessment enables a diagnosis in 65% patients with proportionate short stature.  Additionally the tests to be offered would depend on the clinical profile.”

Normal variation in adult height is largely due to inherited genetic factors. But, by contrast, at the extreme of short stature, patients often have mutations in single gene, resulting in large effects on the height.

In our study of 455 patients with short stature, 226 patients required detailed phenotyping and genetic testing for confirmation of etiology while 229 were identified on preliminary history/ examination and investigations. 63% (n=142) had proportionate short stature (upper and lower part are equally short abnormally). Of these 93 (65%) were recognizable genetic syndromes such as Turner Syndrome, William Syndrome and RASopathies, etc.

In clinically undefined syndromes, out of 226, 39 (27%), a diagnosis could be made by Karotype, Chromosomal Microarray and Exome Sequencing.

Balance of 84 children (37%) had disproportionate short stature (either upper or lower part of body is short), Lysosomal Storage Disorder were found in 45% (38) which were identified by Enzyme Analysis in 86.8% individuals. Skeletal Dysplasias found in 44% (37) individuals were identified by Skeletal Survey in 89% cases and unclassified were 9 (8%).

Dr. Ratna Dua Puri concluded, “Through this study, we have attempted to represent the genetic spectrum of disorders in children with short stature and the appropriate testing indications. This becomes more relevant with the increasing ability of the tests and decreasing costs. Achieving a definitive diagnosis can help to guide prognosis, provide treatment and genetic counseling to the families. Along with genetic test a good clinical examination of the child is very essential.”     

healthysoch 

Stay informed with the latest news from HealthySoch. Sign up today for exclusive insights and updates!

We promise we never spam!

Leave a Reply

Your email address will not be published.

Health Tips

Dr. T S Kler Padma Bhushan Awardee
MD, DM, MRCP, FRCP(U.K), FACC, D.Sc
Chairman – Fortis Heart Institute Gurugram

Precautions to avoid Corona Virus:

  1. Stay home as far as possible.
  2. Wash hands with soap and water frequently.
  3. Keep distance from people even your home members.
  4. Keep atleast 1-2 metres away from anybody coughing.
  5. Don’t touch your face, nose and mouth.

 

Dr. K.K Says

Archives

MonTueWedThuFriSatSun
    123
45678910
18192021222324
25262728293031
       
   1234
567891011
12131415161718
26272829   
       
891011121314
293031    
       
    123
45678910
11121314151617
25262728293031
       
  12345
6789101112
13141516171819
27282930   
       
      1
2345678
9101112131415
16171819202122
3031     
     12
17181920212223
24252627282930
31      
   1234
567891011
12131415161718
2627282930  
       
1234567
891011121314
22232425262728
293031    
       
     12
3456789
17181920212223
24252627282930
       
  12345
6789101112
       
  12345
13141516171819
2728     
       
      1
9101112131415
3031     
   1234
567891011
       
282930    
       
    123
45678910
       
  12345
27282930   
       
      1
3031     
    123
11121314151617
       
28      
       
2930     
       
    123
       
       
       
      1
9101112131415
3031     
     12
3456789
10111213141516
17181920212223
242526272829 
       
  12345
13141516171819
2728293031  
       
      1
23242526272829
3031     
    123
       
    123
25262728   
       
78910111213
28293031   
       
293031    
       
14151617181920
28293031   
       
   1234
567891011
       
   1234
567891011
262728    
       
891011121314
293031    
       
    123
18192021222324
25262728293031
       
  12345
27282930   
       
      1
2345678
16171819202122
3031     
    123
45678910
18192021222324
       
28293031   
       
     12
31      
   1234
       
  12345
6789101112
       
HealthySoch

Don't Miss

Oral cancer spreads its grip on India, tobacco among the biggest risks

“In the last 6 years, its incidence has increased by

Unsafe abortions still rampant among women, even in urban India

“Lack of awareness on how to safely terminate a pregnancy