Intronic Mutation in the Growth Hormone (GH) Receptor Gene from a Girl with Laron Syndrome and Extremely High Serum GH Binding Protein: Extended Phenotypic Study in a Very Large Pedigree

Author(s):  
A viva Silbergeld ◽  
Florence Dastot ◽  
Beatrice Klinger ◽  
Hanna Kanety ◽  
Rina Eshet ◽  
...  
1992 ◽  
Vol 126 (2) ◽  
pp. 155-161 ◽  
Author(s):  
Geoffrey R Ambler ◽  
Bernhard H Breier ◽  
Andrzej Surus ◽  
Hugh T Blair ◽  
Stuart N McCutcheon ◽  
...  

We evaluated the interrelationship between, and regulation of, the hepatic growth hormone receptor and serum GH binding protein (GH BP) in pigs treated with recombinant porcine growth hormone (rpGH). Infant and pubertal male pigs (N = 5 per group) received either rpGH 0.15 mg/kg daily or diluent intramuscularly for 12 days. Somatic growth, serum IGF-I and GH BP and [125I]bovine GH (bGH) binding to MgCl2-treated hepatic membrane homogenates were examined. Marked age-related increases were seen in serum GH BP (p<0.001) and [125I]bGH binding to hepatic membranes (p<0.001). GH BP was increased in rpGH treated animals (p = 0.03), from 13.8±1.2 (mean±1 x sem) (controls) to 17.8±2.0% in infants, and from 35.2±2.6 (controls) to 41.8±3.4% in pubertal animals. [125I]bGH binding to hepatic membranes was also increased by rpGH treatment (p<0.05), from 7.0±1.6 (controls) to 15.4±3.6% in infants and from 53.7±7.1 (controls) to 65.1±11.8% in pubertal animals. No significant interaction between age and treatment was seen. Overall, serum GH BP correlated significantly with [125I]bGH membrane capacity (r=0.82, p<0.001), with a correlation of r= 0.83 in the infant animals but no significant correlation in the pubertal animals considered alone (r=0.13). Serum IGF-I correlated significantly with serum GH BP (r=0.93, p<0.001) and [125]bGH membrane binding capacity (r = 0.91, p< 0.001). These observations suggest that serum GH BP levels reflect major changes of hepatic GH receptor status. In addition, the present study demonstrates that the hepatic GH receptor can be induced by GH in the infant pig, despite a developmentally low GH receptor population at this age, suggesting potential efficacy of GH at earlier ages than generally considered.


1994 ◽  
Vol 45 (4) ◽  
pp. 1085-1092 ◽  
Author(s):  
Burkhard Tönshoff ◽  
Staffan Edén ◽  
Eckart Weiser ◽  
Björn Carlsson ◽  
Iain C.A.F. Robinson ◽  
...  

1995 ◽  
Vol 147 (2) ◽  
pp. 253-258 ◽  
Author(s):  
Z Hochberg ◽  
T Amit ◽  
A Flyvbjerg ◽  
I Dørup

Abstract Potassium (K+) deficiency is associated with growth retardation in both man and experimental animals. Growth hormone (GH) administration to such animals prevents, to some extent, weight loss and selective muscle atrophy, but does not affect tail and tibia length even with supraphysiological doses. The present study was undertaken to investigate the possible effect of K+ deficiency on the hepatic GH receptor and GH-binding protein (BP). Young female Wistar rats were maintained on K+-deficient fodder and distilled water, and compared with pair-fed and ad-libitumfed control groups. After 15 days GH-BP and electrolytes were measured in sera, GH receptors were studied in liver membranes by 125I-labeled human GH binding and muscles were weighed and saved for electrolyte measurements. K+-deficient rats showed complete growth arrest compared with an intermediate weight gain of the pair-fed group. Serum K+ was very low, at 1·5 ±0·1 mmol/l, compared with the mean value of 5·3 mmol/l of control animals. Somatogenic and lactogenic receptors in liver membranes and serum GH-BP levels were significantly (P<0·05) lower in K+ deficiency, as compared with their pair-fed controls. Liver GH receptors correlated significantly (P<0·05) with serum GH-BP levels. The growth variables correlated positively with both hepatic somatogenic and lactogenic receptors and serum GH-BP levels, with correlation coefficients that were highest against serum GH-BP and lowest against liver lactogenic receptors. Serum and muscle K+ correlated significantly (P<0·05) with both liver GH receptors and serum GH-BP, with correlation coefficients that were higher against serum GH-BP. Lactogenic receptors had a lower or no correlation. It is concluded that GH receptor deficiency may be involved in the growth retardation of K+ deficiency. Journal of Endocrinology (1995) 147, 253–258


Endocrinology ◽  
1990 ◽  
Vol 126 (4) ◽  
pp. 1914-1920 ◽  
Author(s):  
TOVA BICK ◽  
TAMAR AMIT ◽  
RONNIE J. BARKEY ◽  
PNINA HERTZ ◽  
MOUSSA B. H. YOUDIM ◽  
...  

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