Antibody deficiency and isolated growth hormone deficiency in a girl with Mulibrey nanism

1993 ◽  
Vol 152 (6) ◽  
pp. 509-512 ◽  
Author(s):  
Á. Haraldsson ◽  
C. J. A. M. van der Burgt ◽  
C. M. R. Weemaes ◽  
B. Otten ◽  
J. A. J. M. Bakkeren ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Antibody Deficiency ◽  
Hormone Deficiency ◽  
Isolated Growth Hormone Deficiency ◽  
Mulibrey Nanism

TYPICAL CASES OF ISOLATED GROWTH HORMONE DEFICIENCY WITH AUTOSOMAL RECESSIVE INHERITANCE

1970 ◽  
Vol 63 (4) ◽  
pp. 618-624 ◽  
Author(s):  
Y. Kumahara ◽  
Y. Okada ◽  
K. Miyai ◽  
H. Iwatsubo
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Autosomal Recessive ◽  
Autosomal Recessive Inheritance ◽  
Adult Subject ◽  
Hormone Deficiency ◽  
Recessive Inheritance ◽  
Arginine Infusion ◽  
Isolated Growth Hormone Deficiency ◽  
Male Dwarf

ABSTRACT A 25-year-old male dwarf and his sister, a 31-year-old woman were investigated. Their respective heights were 114 and 97 cm with proportional statures. Their bone ages were that found in the adult subject. Thyroid functions and metyrapone test were normal and the total urinary gonadotrophin was determined in both cases. HGH secretion was not stimulated by insulin-induced hypoglycaemia, arginine infusion or exercise. Their parents and six other siblings were normal in height. The two patients were therefore assumed to be suffering from an isolated growth hormone deficiency with autosomal recessive inheritance.

scholarly journals Isolated Growth Hormone Deficiency (GHD) in Childhood and Adolescence: Recent Advances

2014 ◽  
Vol 35 (3) ◽  
pp. 376-432 ◽  
Author(s):  
Kyriaki S. Alatzoglou ◽  
Emma Alice Webb ◽  
Paul Le Tissier ◽  
Mehul T Dattani
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Hormone Deficiency ◽  
Childhood And Adolescence ◽  
Isolated Growth Hormone Deficiency ◽  
Recent Advances

scholarly journals Insulin Sensitivity and β-Cell Function in Adults with Lifetime, Untreated Isolated Growth Hormone Deficiency

2012 ◽  
Vol 97 (3) ◽  
pp. 1013-1019 ◽  
Author(s):  
Carla R. P. Oliveira ◽  
Roberto Salvatori ◽  
Jose A. S. Barreto-Filho ◽  
Ivina E. S. Rocha ◽  
Andrea Mari ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Insulin Sensitivity ◽  
Growth Hormone Deficiency ◽  
Cell Function ◽  
Hormone Deficiency ◽  
Β Cell ◽  
Isolated Growth Hormone Deficiency ◽  
Β Cell Function

scholarly journals Molecular basis for familial isolated growth hormone deficiency.

1981 ◽  
Vol 78 (10) ◽  
pp. 6372-6375 ◽  
Author(s):  
J. A. Phillips ◽  
B. L. Hjelle ◽  
P. H. Seeburg ◽  
M. Zachmann
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Molecular Basis ◽  
Hormone Deficiency ◽  
Isolated Growth Hormone Deficiency

The association of +1150A polymorphism with low GH level in isolated growth hormone deficiency (IGHD) patients

Gene Reports ◽  
2019 ◽  
Vol 14 ◽  
pp. 118-123
Author(s):  
Nora N. Esmaiel ◽  
Alaaeldin G. Fayez ◽  
Manal M. Thomas ◽  
Randa I. Khalaf ◽  
Sohair M. Salem ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Hormone Deficiency ◽  
Isolated Growth Hormone Deficiency

scholarly journals Efficacy and safety of replacement treatment in isolated growth hormone deficiency

2019 ◽  
Vol 90 (5) ◽  
pp. 285-292
Author(s):  
Ana Belén Ariza Jiménez ◽  
María José Martínez-Aedo Ollero ◽  
Juan Pedro López-Siguero
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Hormone Deficiency ◽  
Efficacy And Safety ◽  
Isolated Growth Hormone Deficiency ◽  
Replacement Treatment

Erythrocytes from patients with low serum concentrations of IGF-I have an increase in receptor sites for IGF-I

1991 ◽  
Vol 125 (4) ◽  
pp. 354-358 ◽  
Author(s):  
R. Eshet ◽  
Z. Dux ◽  
A. Silbergeld ◽  
R. Koren ◽  
B. Klinger ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Specific Binding ◽  
Hormone Deficiency ◽  
Scatchard Analysis ◽  
Isolated Growth Hormone Deficiency ◽  
Receptor Sites ◽  
Igf I ◽  
The Mean ◽  
Low Serum

Abstract. The binding characteristics of insulin-like growth factor I on erythrocytes were studied in 11 patients with long-term IGF-I deprivation and low serum IGF-I levels. Six patients had Laron type dwarfism and 5 idiopathic isolated growth hormone deficiency, with a mean (± sem) serum IGF-I level of 6.01±1.01 nmol/l as compared with that in 25 normal controls of 26.35±2.73 nmol/l (p=0.00001). The mean (± sem) [125I]IGF-I specific binding at a concentration of 4×1012 cell/l was 12.11±1.29% for the patient group compared with 8.75±0.62% for the controls (p=0.005). Scatchard analysis showed a curvilinear plot. Using a non-linear curve fit, the mean (± sem) number of high-affinity receptor sites per cell was found to be 7.34±1.80 in the IGF-I-deprived patients and 2.84±0.29 in the controls (p=0.0005). The mean ± sem dissociation constant was found to be 0.33±0.10 nmol/l for the patients and 0.26±0.08 nmol/l for the controls (NS). This study has demonstrated that the low serum concentration of IGF-I in Laron type dwarfism and isolated growth hormone deficiency is associated with an increase in receptor sites for IGF-I on the erythrocytes. The application of this property as a diagnostic aid remains to be established.

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