Laron syndrome – A case Report

JMS SKIMS ◽  
2017 ◽  
Vol 20 (2) ◽  
pp. 104-106
Author(s):  
Javaid Ahmad Bhat ◽  
Moomin Hussain Bhat ◽  
Hilal Bhat ◽  
Mona Sood ◽  
Shariq Rashid Masoodi

Background : Laron & colleagues (1966) reported a rare genetic disorder in Israliei Jewish sublings which was characterized by insensitivity to growth hormone due to abnormality in growth hormone receptor or post receptor signaling pathway.Case Report: We hereby report a case of a 5 year old female child who presented to us with features similar to Laron syndrome. The diagnosis was made & confirmed by various Lab. investigations like low IGF-I levels and managed accordingly. JMS 2017; 20 (2):104-106  

2002 ◽  
Vol 56 (3) ◽  
pp. 303-311 ◽  
Author(s):  
C. Parkinson ◽  
W. M. Drake ◽  
G. Wieringa ◽  
A. P. Yates ◽  
G. M. Besser ◽  
...  

2010 ◽  
Vol 120 (11) ◽  
pp. 4007-4020 ◽  
Author(s):  
Mahendra D. Mavalli ◽  
Douglas J. DiGirolamo ◽  
Yong Fan ◽  
Ryan C. Riddle ◽  
Kenneth S. Campbell ◽  
...  

2004 ◽  
Vol 181 (2) ◽  
pp. 281-290 ◽  
Author(s):  
J Wook Kim ◽  
RP Rhoads ◽  
SS Block ◽  
TR Overton ◽  
SJ Frank ◽  
...  

At parturition, dairy cows experience a 70% reduction in plasma IGF-I. This reduction coincides with decreased abundance of GHR1A, the liver-specific transcript of the growth hormone receptor (GHR) gene, suggesting impaired growth hormone-dependent synthesis of IGF-I. It is not immediately obvious that the periparturient reduction in GHR1A is sufficient to reduce hepatic GHR abundance. This is because approximately 50% of total GHR mRNA abundance in prepartum liver is accounted for by ubiquitously expressed transcripts which remain collectively unchanged at parturition. In addition, the possibility that parturition alters GHR expression in other growth hormone target tissue has not been examined. To address these questions, we measured GHR gene expression and GHR protein in liver and skeletal muscle of four dairy cows on days -35,+3 and+56 (relative to parturition on day 0). Hepatic GHR abundance and GHR1A transcripts were lower on day+3 than on day -35 and returned to late pregnancy value by day+56. Additional studies in two other groups of cows indicated that the hepatic levels of the GHR protein recovered substantially within 10 days after parturition. These changes occurred without variation in the abundance of HNF4, a liver-enriched transcription factor activating the promoter responsible for GHR1A synthesis. In contrast to liver, levels of GHR gene expression and GHR protein were identical on days -35,+3 and+56 in skeletal muscle. These data suggest a role for the GHR in regulating tissue-specific changes in growth hormone responsiveness in periparturient dairy cows.


2007 ◽  
Vol 282 (48) ◽  
pp. 35405-35415 ◽  
Author(s):  
Iwona Pilecka ◽  
Claudia Patrignani ◽  
Rosanna Pescini ◽  
Marie-Laure Curchod ◽  
Dominique Perrin ◽  
...  

2005 ◽  
Vol 20 (12) ◽  
pp. 2138-2149 ◽  
Author(s):  
Katrien Venken ◽  
Frans Schuit ◽  
Leentje Van Lommel ◽  
Katsura Tsukamoto ◽  
John J Kopchick ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document