Serum GH response to pharmacological stimuli and physical exercise in two siblings with two new inactivating mutations in the GH-releasing hormone receptor gene

European Journal of Endocrinology

Volumn 147, Issue 5, 2002, Pages 591-596

  Salvatori, Roberto ^c   Fan, Xiaoguang ^c   Veldhuis, Johannes D ^a   Couch, Robert ^b  

^a UNIVERSITY OF VIRGINIA   (United States)

^b UNIVERSITY OF ALBERTA   (Canada)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GROWTH HORMONE; GROWTH HORMONE RELEASING FACTOR RECEPTOR; SERMORELIN;

ADENOHYPOPHYSIS DISEASE; ARTICLE; CASE REPORT; CODON; CONSANGUINITY; CONTROLLED STUDY; DNA DETERMINATION; EXERCISE; EXON; GENE MUTATION; GROWTH HORMONE BLOOD LEVEL; GROWTH HORMONE DEFICIENCY; GROWTH HORMONE RELEASE; HETEROZYGOTE; HORMONE DETERMINATION; HUMAN; HYPOTHESIS; INTRON; MALE; MORPHOLOGY; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PREDICTION; PRIORITY JOURNAL; PROMOTER REGION; SCHOOL CHILD; SEQUENCE ANALYSIS; SIBLING; SPLICE MUTATION; STANDARDIZATION; STIMULUS RESPONSE;

EID: 0036856154     PISSN: 08044643     EISSN: None     Source Type: Journal    
DOI: 10.1530/eje.0.1470591     Document Type: Article

References (35)

1. Muller EE, Locatelli V & Cocchi D. Neuroendocrine control of growth hormone secretion. Physiology Reviews 1999 79 511-607.
2. Kojima M, Hosoda H, Date Y, Kakazato M, Matsuo H & Kangawa K. Ghrelin is a growth hormone-releasing acylated peptide from stomach. Nature 1999 402 656-660.
3. Cogan JD & Phillips JA III. Growth disorders caused by genetic defects in the growth hormone pathway GH deficiency. In Advances in Pediatrics, pp 337-361. Eds LA Barness, G Morron III, AM Rudolph, DC De Vivo, MM Kabacl & WW Tunnessen Jr. Mosby: St Louis, 1998.
4. Wajnrajch MP, Gertner JM, Harbison MD, Chua SC Jr & Leibel RL. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nature Genetics 1996 12 88-90.
5. Maheshwari HG, Silverman BL, Dupuis J & Baumann G. Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: dwarfism of Sindh. Journal of Clinical Endocrinology and Metabolism 1998 83 4065-4074.
6. Salvatori R, Hayashida CY, Aguilar-Oliveira MH, Phillips JA 3rd, Souza AH, Gondo RG et al. Familial dwarfism due to a novel mutation in the growth hormone-releasing hormone receptor. Journal of Clinical Endocrinology and Metabolism 1999 84 917-923.
7. Salvatori R, Fan X, Phillips JA III, Espigares-Martin R, Martin De Lara I, Freeman KL et al. Three new mutations in the gene for the growth hormone (GH)-releasing hormone receptor in familial isolated GH deficiency type IB. Journal of Clinical Endocrinology and Metabolism 2001 86 273-279.
8. Salvatori R, Fan X, Phillips JA III, Prince M & Levine MA. Isolated growth hormone (GH) deficiency due to compound heterozygosity for 2 new mutations in the GH-releasing hormone receptor gene. Clinical Endocrinology 2001 54 681-687.
9. Horikawa R, Fujiita K, Nakajima R, Gaylinn ED & Tanaka T. A novel growth hormone-releasing hormone (GHRH) receptor mutation as a cause for isolated GH deficiency in Japanese boy with severe short stature. Proceedings of the 82nd Meeting of the Endocrine Society Toronto, Canada 2000 Abstract 1995.
10. Roelfsema F, Biermasz NR, Veldman RG, Veldhuis JD, Frolich M, Stokvis-Brantsma WH et al. Growth hormone (GH) secretion in patients with an inactivating defect of the GH-releasing hormone (GHRH) receptor is pulsatile: evidence for a role for non-GHRH inputs into the generation of GH pulses. Journal of Clinical Endocrinology and Metabolism 2001 86 2459-2464.
11. Salvatori R, Fan X, Mullis PE, Haile A & Levine MA. Decreased expression of the GHRH receptor gene due to a mutation in a Pit-1 binding site. Molecular Endocrinology 2002 16 450-458.
12. Seip RL, Weltman A, Goodman D & Rogol AD. Clinical utility of cycle exercise for the clinical assessment of growth hormone release in children. American Journal of Diseases in Childhood 1990 144 998-1000.
13. Iranmanesh A, Grisso B & Veldhuis JD. Low basal and persistent pulsatile growth hormone secretion are revealed in normal and hyposomatotropic men studied with a new ultrasensitive chemiluminescence assay. Journal of Clinical Endocrinology and Metabolism 1994 78 526-535.
14. Chapman IM, Hartman ML, Straume M, Johnson ML, Veldhuis JD & Thorner MO. Enhanced sensitivity growth hormone (GH) chemiluminescence assay reveals lower postglucose nadir GH concentrations in men than women. Journal of Clinical Endocrinology and Metabolism 1994 78 1312-1319.
15. Veldhuis JD, Liem AY, South S, Weltman A, Weltman J, Clemmons DA et al. Differential impact of age, sex steroid hormones and obesity on basal versus pulsatile growth hormone secretion in men as assessed in an ultrasensitive chemiluminescence assay. Journal of Clinical Endocrinology and Metabolism 1995 80 3209-3222.
16. Miller KM, Ming TJ, Schulze AD & Withler RE. Denaturing gradient gel electrophoresis (DGGE): a rapid and sensitive technique to screen nucleotide sequence variation in populations. Biotechniques 1999 27 1016-1018.
17. Sheffield VC, Cox DR, Lerman LS & Myers RM. Attachment of a 40-base-pair G + C-rich sequence (G-C clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. PNAS 1989 86 232-236.
18. Collins FS, Brooks LD & Chakravarti A. A DNA polymorphism discovery resource for research on human genetic variation. Genomic Research 1998 8 1229-1231.
19. Gaylinn BD, Harrison JK, Zysk JR, Lyons CE, Lynch KR & Thorner MO. Molecular cloning and expression of human anterior pituitary receptor for growth hormone-releasing hormone. Molecular Endocrinology 1993 7 77-84.
20. Horowitz DS & Krainer AR. Mechanism for selecting 5′ splice sites in mammalian pre-mRNA splicing. Trends in Genetics 1994 10 100-105.
21. Cappa M, Grossi A, Benedetti S, Drago F, Loche S & Ghigo E. Effect of the enhancement of cholinergic tone by pyridostigmine on the exercise-induced growth hormone release in man. Journal of Endocrinological Investigation 1993 16 421-424.
22. Netchine I, Talon P, Dastot F, Vitaux F, Goosens M & Amselem S. Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene. Journal of Clinical Endocrinology and Metabolism 1998 83 432-436.
23. Murray RA, Maheshwari HG, Russell EJ & Baumann G. Pituitary hypoplasia in patients with a mutation in the growth hormone-releasing hormone receptor gene. American Journal of Neuroradiology 2000 21 685-689.
24. Wajnrajch MP, Gertner MJ, Harbison MD, Netchine I, Maheshwari HG & Baumann G et al. Haplotype analysis of three kindreds with an identical (E72X) mutation in the growth hormone releasing hormone receptor gene. Proceedings of the 81st Meeting of the Endocrine Society San Diego, CA 1999 Abstract P2-289.
25. Rekasi Z, Czompoly T, Schally AV & Halmos G. Isolation and sequencing of cDNAs for splice variants of growth hormone-releasing hormone receptors from human cancers. PNAS 2000 97 10561-10566.
26. Frischmeyer PA & Dietz HC. Nonsense-mediated mRNA decay in health and disease. Human Molecular Genetics 1999 8 1893-1900.
27. Lin S-C, Lin CR, Gukovski I, Lusis AJ, Sawchenko PE & Rosenfeld MG. Molecular basis of the little mouse phenotype and implications for cell type-specific growth. Nature 1993 364 208-213.
28. L'Hermite-Baleriaux M, Copinschi G & Van Cauter E. Growth hormone assays: early to latest test generation compared. Clinical Chemistry 1996 42 1789-1795.
29. Di Luigi L, Conti FG, Casini A, Guidetti L, Zezze G, Pigozzi F et al. Growth hormone and insulin-like growth factor I responses to moderate submaximal acute physical exercise in man: effects of octreotide, a somatostatin analogue, administration. International Journal of Sports Medicine 1997 18 257-263.
30. Casanueva FF, Villanueva L, Cabranes JA, Cabezas-Cerrato J & Fernandez-Cruz A. Cholinergic mediation of growth hormone secretion elicited by arginine, clonidine, and physical exercise. Journal of Clinical Endocrinology and Metabolism 1984 59 526-530.
31. Cappa M, Bizzarri C, Martinez C, Porzio O, Giannone G, Turchetta A et al. Neuroregulation of growth hormone during exercise in children. International Journal of Sports Medicine 2000 21 (Suppl 2) 125-128.
32. Gondo RG, Aguiar-Oliveira MH, Hayashida CY, Toledo SP, Abelin N, Levine MA et al. Growth hormone-releasing peptide-2 stimulates GH secretion in GH-deficient patients with mutated GH-releasing hormone receptor. Journal of Clinical Endocrinology and Metabolism 2001 86 3279-3283.
33. Maheshwari HG, Pezzoli SS, Rahim A, Shalet SM, Thorner MO & Baumann G. Pulsatile growth hormone secretion persists in genetic growth hormone-releasing hormone resistance. American Journal of Physiology: Endocrinology and Metabolism 2002 282 E943-E951.
34. Aimaretti G, Baffoni C, DiVito L, Bellone S, Grottoli S, Maccario M et al. Comparisons among old and new provocative tests of GH secretion in 178 normal adults. European Journal of Endocrinology 2000 142 347-352.
35. Ghigo E. Neurotransmitter control of growth hormone secretion. In Regulation of Growth Hormone and Somatic Growth, pp 103-136. Ed. LF de la Cruz. Amsterdam: Elsevier, 1992.