Diagnostic and therapeutic advances in growth hormone insensitivity

被引：14

作者：

David, A

Metherell, LA

Clark, AJL

Camacho-Hübner, C

Savage, MO ^{[1
]}

机构：

[1] St Bartholomews Hosp, Dept Paediat Endocrinol, London EC1A 7BE, England

[2] St Bartholomews Hosp, William Harvey Res Inst, Mol Endocrinol Ctr, London, England

[3] Queen Marys Hosp, Sch Med & Dent, Div Paediat Endocrinol, London, England

来源：

ENDOCRINOLOGY AND METABOLISM CLINICS OF NORTH AMERICA | 2005年 / 34卷 / 03期

关键词：

D O I：

10.1016/j.ecl.2005.04.009

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Diagnostic and therapeutic advances in growth hormone insensitivity (GHI) have occurred principally in two areas: the molecular characterization of patients with GHI and treatment with recombinant human insulinlike growth factor-I (IGF-I). This article discusses the current status of molecular diagnosis across the spectrum of the disorder. Treatment with recombinant human IGF-I in classical cases is summarized, and potential new targets for treatment are discussed together with the potential for therapy using the newly developed compound recombinant human IGF-I/IGF binding protein-3.

引用

收藏

页码：581 / +

页数：16

相关论文

共 85 条

[1] RECURRENT NONSENSE MUTATIONS IN THE GROWTH-HORMONE RECEPTOR FROM PATIENTS WITH LARON DWARFISM [J].

AMSELEM, S ;

SOBRIER, ML ;

DUQUESNOY, P ;

RAPPAPORT, R ;

POSTELVINAY, MC ;

GOURMELEN, M ;

DALLAPICCOLA, B ;

GOOSSENS, M .

JOURNAL OF CLINICAL INVESTIGATION, 1991, 87 (03) :1098-1102

[2] SPECTRUM OF GROWTH-HORMONE RECEPTOR MUTATIONS AND ASSOCIATED HAPLOTYPES IN LARON SYNDROME [J].

AMSELEM, S ;

DUQUESNOY, P ;

DURIEZ, B ;

DASTOT, F ;

SOBRIER, ML ;

VALLEIX, S ;

GOOSSENS, M .

HUMAN MOLECULAR GENETICS, 1993, 2 (04) :355-359

[3]

Arad I, 1979, P 1 INT C AUX ROM 19, P159

[4] IDENTIFICATION OF JAK2 AS A GROWTH-HORMONE RECEPTOR-ASSOCIATED TYROSINE KINASE [J].

ARGETSINGER, LS ;

CAMPBELL, GS ;

YANG, XN ;

WITTHUHN, BA ;

SILVENNOINEN, O ;

IHLE, JN ;

CARTERSU, C .

CELL, 1993, 74 (02) :237-244

[5] EVIDENCE FOR PARTIAL GROWTH-HORMONE INSENSITIVITY AMONG PATIENTS WITH IDIOPATHIC SHORT STATURE [J].

ATTIE, KM ;

CARLSSON, LMS ;

RUNDLE, AC ;

SHERMAN, BM .

JOURNAL OF PEDIATRICS, 1995, 127 (02) :244-250

[6] A dominant-negative mutation of the growth hormone receptor causes familial short stature [J].

Ayling, RM ;

Ross, R ;

Towner, P ;

VonLaue, S ;

Finidori, J ;

Moutoussamy, S ;

Buchanan, CR ;

Clayton, PE ;

Norman, MR .

NATURE GENETICS, 1997, 16 (01) :13-14

[7] Growth response to rhIGF-I 80 μg/kg twice daily in children with growth hormone insensitivity syndrome:: relationship to severity of clinical phenotype [J].

Azcona, C ;

Preece, MA ;

Rose, SJ ;

Fraser, N ;

Rappaport, R ;

Ranke, MB ;

Savage, MO .

CLINICAL ENDOCRINOLOGY, 1999, 51 (06) :787-792

[8] Bone mineral, histomorphometry, and body composition in adults with growth hormone receptor deficiency [J].

Bachrach, LK ;

Marcus, R ;

Ott, SM ;

Rosenbloom, AL ;

Vasconez, O ;

Martinez, V ;

Martinez, AL ;

Rosenfeld, RG ;

Guevara-Aguirre, J .

JOURNAL OF BONE AND MINERAL RESEARCH, 1998, 13 (03) :415-421

[9] Prolonged treatment with recombinant insulin-like growth factor-I in children with growth hormone insensitivity syndrome - A clinical research center study [J].

Backeljauw, PF ;

Underwood, LE ;

Miras, M ;

Arriazu, MC ;

Heinrich, J ;

Ghizzoni, L ;

Blethen, S ;

Donaldson, D ;

Cleveland, W ;

Duncan, V .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 1996, 81 (09) :3312-3317

[10] Therapy for 6.5-7.5 years with recombinant insulin-like growth factor I in children with growth hormone insensitivity syndrome: A clinical research center study [J].

Backeljauw, PF ;

Underwood, LE .

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2001, 86 (04) :1504-1510

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