儿童生长激素缺乏症

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Saggese G, Ranke MB, Saenger P, et al. Diagnosis and treatment of growth hormone deficiency in children and adolescents: towards a consensus. Ten years after the Availability of Recombinant Human Growth Hormone Workshop held in Pisa, Italy, 27-28 March 1998. Horm Res. 1998;50:320-340.

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Segal TY, Mehta A, Anazodo A, et al. Role of gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests in differentiating patients with hypogonadotropic hypogonadism from those with constitutional delay of growth and puberty. J Clin Endocrinol Metab. 2009;94:780-785.

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Dattani M, Preece M. Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment. Lancet. 2004;363:1977-1987.

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Growth Hormone Research Society. Consensus guidelines for the diagnosis and treatment of adults with growth hormone deficiency: summary statement of the Growth Hormone Research Society Workshop on Adult Growth Hormone Deficiency. J Clin Endocrinol Metab. 1998;83:379-381.

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1.  Regal M, Paramo C, Sierra SM, et al. Prevalence and incidence of hypopituitarism in an adult Caucasian population in northwestern Spain. Clin Endocrinol (Oxf). 2001;55:735-740.

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2.  Mehta A, Hindmarsh PC, Mehta H, et al. Congenital hypopituitarism: clinical, molecular and neuroradiological correlates. Clin Endocrinol (Oxf). 2009;71:376-382.

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3.  Mehta A, Dattani MT. Congenital disorders of the hypothalamic-pituitary axis. In: Brook CG, Clayton PE, Brown RS, et al., eds. Clinical pediatric endocrinology. 5th ed. Oxford, United Kingdom: Blackwell Publishing; 2005:62-89.

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5.  Craft WH, Underwoood LE, Van Wyk JJ. High incidence of perinatal insult in children with idiopathic hypopituitarism. J Pediatr. 1980;96:397-402.

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6.  Dattani MT, Robinson IC. The molecular basis for developmental disorders of the pituitary gland in man. Clin Genet. 2000;57:337-346.

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8.  Woods KS, Cundall M, Turton J, et al. Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet. 2005;76:833-849.

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9.  Alatzoglou KS, Turton JP, Kelberman D, et al. Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency. J Clin Endocrinol Metab. 2009;94:3191-3199.

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10.  Argente J, Flores R, Gutiérrez-Arumí A, et al. Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency. EMBO Mol Med. 2014;6:299-306.

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11.  Illig R. Growth hormone antibodies in patients treated with different preparations of human growth hormone (HGH). J Clin Endocrinol Metab. 1970;31:679-688.

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12.  Phillips JA 3rd, Hjelle BL, Seeburg PH, et al. Molecular basis for familial isolated growth hormone deficiency. Proc Natl Acad Sci U S A. 1981;78:6372-6375.

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13.  Wajnrajch MP, Gertner JM, Harbison MD, et al. Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse. Nat Genet. 1996;12:88-90.

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14.  Carakushansky M, Whatmore AJ, Clayton PE, et al. A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency. Eur J Endocrinol. 2003;148:25-30.

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15.  Moseley CT, Mullis PE, Prince MA, et al. An exon splice enhancer mutation causes autosomal dominant GH deficiency. J Clin Endocrinol Metab. 2002;87:847-852.

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16.  Salemi S, Yousefi S, Baltensperger K, et al. Variability of isolated autosomal dominant GH deficiency (IGHD II): impact of the P89L GH mutation on clinical follow-up and GH secretion. Eur J Endocrinol. 2005;153:791-802.

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17.  Turton JP, Buchanan CR, Robinson IC, et al. Evolution of gonadotropin deficiency in a patient with type II autosomal dominant GH deficiency. Eur J Endocrinol. 2006;155:793-799.

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18.  Laumonnier F, Ronce N, Hamel BC, et al. Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet. 2002;71:1450-1455.

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19.  Müller HL, Emser A, Faldum A, et al. Longitudinal study on growth and body mass index before and after diagnosis of childhood craniopharyngioma. J Clin Endocrinol Metab. 2004;89:3298-3305.

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20.  Honegger J, Buchfelder M, Fahlbusch R. Surgical treatment of craniopharyngiomas: endocrinological results. J Neurosurg. 1999;90:251-257.

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21.  Karavitaki N, Brufani C, Warner JT, et al. Craniopharyngiomas in children and adults: systematic analysis of 121 cases with long-term follow-up. Clin Endocrinol (Oxf). 2005;62:397-409.

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22.  Mulder RL, Kremer LC, van Santen HM, et al. Prevalence and risk factors of radiation-induced growth hormone deficiency in childhood cancer survivors: a systematic review. Cancer Treat Rev. 2009;35:616-632.

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23.  Aimaretti G, Ambrosio MR, Di Somma C, et al. Residual pituitary function after brain injury-induced hypopituitarism: a prospective 12-month study. J Clin Endocrinol Metab. 2005;90:6085-6092.

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24.  Lieberman SA, Oberoi AL, Gilkison CR, et al. Prevalence of neuroendocrine dysfunction in patients recovering from traumatic brain injury. J Clin Endocrinol Metab. 2001;86:2752-2756.

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25.  Italian Working Group on Endocrine Complications in Non-endocrine Diseases. Multicentre study on prevalence of endocrine complications in thalassaemia major. Clin Endocrinol (Oxf). 1995;42:581-586.

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26.  Albanese A, Hamill G, Jones J, et al. Reversibility of physiological growth hormone secretion in children with psychosocial dwarfism. Clin Endocrinol (Oxf). 1994;40:687-692.

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27.  Kojima M, Hosoda H, Date Y, et al. Ghrelin is a growth-hormone-releasing acylated peptide from stomach. Nature. 1999;402:656-660.

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28.  Wit JM, Kamp GA, Rikken B. Spontaneous growth and response to growth hormone treatment in children with growth hormone deficiency and idiopathic short stature. Pediatr Res. 1996;39:295-302.

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29.  Ranke MB, Price DA, Albertsson-Wikland K, et al. Factors determining pubertal growth and final height in growth hormone treatment of idiopathic growth hormone deficiency: analysis of 195 patients of the Kabi Pharmacia International Growth Study. Horm Res. 1997;48:62-71.

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30.  Webb EA, O’Reilly MA, Clayden JD, et al. Effect of growth hormone deficiency on brain structure, motor function and cognition. Brain. 2012;135(pt 1):216-227.

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31.  Birkebaek NH, Patel L, Wright NB, et al. Endocrine status in patients with optic nerve hypoplasia: relationship to midline central nervous system abnormalities and appearance of the hypothalamic-pituitary axis on magnetic resonance imaging. J Clin Endocrinol Metab. 2003;88:5281-5286.

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32.  Cook DM, Yuen KC, Biller BM, et al. American Association of Clinical Endocrinologists medical guidelines for clinical practice for growth hormone use in growth hormone-deficient adults and transition patients - 2009 update. Endocr Pract. 2009;15(suppl 2):S1-S29.

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33.  GH Research Society. Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: summary statement of the GH Research Society. J Clin Endocrinol Metab. 2000;85:3990-3993.

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34.  Mehta A, Hindmarsh PC, Stanhope RG, et al. The role of growth hormone in determining birth size and early postnatal growth, using congenital growth hormone deficiency (GHD) as a model. Clin Endocrinol (Oxf). 2005;63:223-231.

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35.  Pena-Almazan S, Buchlis J, Miller S, et al. Linear growth characteristics of congenitally GH-deficient infants from birth to one year of age. J Clin Endocrinol Metab. 2001;86:5691-5694.

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36.  Esberg BH, Jacobsen BB. Isolated congenital growth hormone deficiency: severe hypoglycemia and neonatal giant cell hepatitis [in Danish]. Ugeskr Laeger. 1996;158:6467-6469.

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37.  Netchine I, Sobrier ML, Krude H, et al. Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nat Genet. 2000;25:182-186.

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38.  Machinis K, Pantel J, Netchine I, et al. Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. Am J Hum Genet. 2001;69:961-968.

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39.  Jagannathan J, Dumont AS, Jane JA Jr. Diagnosis and management of pediatric sellar lesions. Front Horm Res. 2006;34:83-104.

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40.  Bayley N, Pinneau SR. Tables for predicting adult height from skeletal age: revised for use with the Greulich-Pyle hand standards. J Pediatr. 1952;40:423-441.

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41.  Mitchell H, Dattani MT, Nanduri V, et al. Failure of IGF-I and IGFBP-3 to diagnose growth hormone insufficiency. Arch Dis Child. 1999;80:443-447.

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42.  Shah A, Stanhope R, Matthew D. Hazards of pharmacological tests of growth hormone secretion in childhood. BMJ. 1992;304:173-174.

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43.  Saggese G, Ranke MB, Saenger P, et al. Diagnosis and treatment of growth hormone deficiency in children and adolescents: towards a consensus. Ten years after the Availability of Recombinant Human Growth Hormone Workshop held in Pisa, Italy, 27-28 March 1998. Horm Res. 1998;50:320-340.

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44.  Binder G, Weidenkeller M, Blumenstock G, et al. Rational approach to the diagnosis of severe growth hormone deficiency in the newborn. J Clin Endocrinol Metab. 2010;95:2219-2226.

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45.  Tillmann V, Tang VW, Price DA, et al. Magnetic resonance imaging of the hypothalamic-pituitary axis in the diagnosis of growth hormone deficiency. J Pediatr Endocrinol Metab. 2000;13:1577-1583.

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46.  Birkebaek NH, Patel L, Wright NB, et al. Optic nerve size evaluated by magnetic resonance imaging in children with optic nerve hypoplasia, multiple pituitary hormone deficiency, isolated growth hormone deficiency, and idiopathic short stature. J Pediatr. 2004;145:536-541.

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47.  Hussain K, Hindmarsh P, Aynsley-Green A. Spontaneous hypoglycemia in childhood is accompanied by paradoxically low serum growth hormone and appropriate cortisol counterregulatory hormonal responses. J Clin Endocrinol Metab. 2003;88:3715-3723.

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48.  Mehta A, Hindmarsh PC, Stanhope RG, et al. Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children? J Clin Endocrinol Metab. 2003;88:5696-5703.

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49.  van Tijn DA, de Vijlder JJ, Vulsma T. Role of the thyrotropin-releasing hormone stimulation test in diagnosis of congenital central hypothyroidism in infants. J Clin Endocrinol Metab. 2008;93:410-419.

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50.  Mehta A, Hindmarsh PC, Dattani MT. An update on the biochemical diagnosis of congenital ACTH insufficiency. Clin Endocrinol (Oxf). 2005;62:307-314.

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51.  Segal TY, Mehta A, Anazodo A, et al. Role of gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests in differentiating patients with hypogonadotropic hypogonadism from those with constitutional delay of growth and puberty. J Clin Endocrinol Metab. 2009;94:780-785.

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52.  Alatzoglou KS, Turton JP, Kelberman D, et al. Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency. J Clin Endocrinol Metab. 2009;94:3191-3199.

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53.  Turton JP, Mehta A, Raza J, et al. Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). Clin Endocrinol (Oxf). 2005;63:10-18.

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54.  Skuse D, Albanese A, Stanhope R, et al. A new stress-related syndrome of growth failure and hyperphagia in children, associated with reversibility of growth-hormone insufficiency. Lancet. 1996;348:353-358.

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55.  Dattani M, Preece M. Growth hormone deficiency and related disorders: insights into causation, diagnosis, and treatment. Lancet. 2004;363:1977-1987.

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56.  Deal CL, Tony M, Höybye C, et al; 2011 Growth Hormone in Prader-Willi Syndrome Clinical Care Guidelines Workshop Participants. Growth Hormone Research Society workshop summary: consensus guidelines for recombinant human growth hormone therapy in Prader-Willi syndrome. J Clin Endocrinol Metab. 2013;98:E1072-E1087.

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57.  Blum WF, Ross JL, Zimmermann AG, et al. GH treatment to final height produces similar height gains in patients with SHOX deficiency and Turner syndrome: results of a multicenter trial. J Clin Endocrinol Metab. 2013;98:E1383-E1392.

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58.  Wilson TA, Rose SR, Cohen P, et al. Update of guidelines for the use of growth hormone in children: the Lawson Wilkins Pediatric Endocrinology Society Drug and Therapeutics Committee. J Pediatr. 2003;143:415-421.

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59.  Rappaport R, Mugnier E, Limoni C, et al; French Serono Study Group. A 5-year prospective study of growth hormone (GH)-deficient children treated with GH before the age of 3 years. J Clin Endocrinol Metab. 1997;82:452-456.

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60.  Saggese G, Federico G, Barsanti S, et al. The effect of administering gonadotropin-releasing hormone agonist with recombinant-human growth hormone (GH) on the final height of girls with isolated GH deficiency: results from a controlled study. J Clin Endocrinol Metab. 2001;86:1900-1904.

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61.  Alatzoglou KS, Dattani MT. Genetic causes and treatment of isolated growth hormone deficiency: an update. Nat Rev Endocrinol. 2010;6:562-576.

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62.  Fradkin JE, Schonberger LB, Mills JL, et al. Creutzfeldt-Jakob disease in pituitary growth hormone recipients in the United States. JAMA. 1991;265:880-884.

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63.  Mauras N, Attie KM, Reiter EO, et al; Genentech, Inc. Cooperative Study Group. High dose recombinant human growth hormone (GH) treatment of GH-deficient patients in puberty increases near-final height: a randomized, multicenter trial. J Clin Endocrinol Metab. 2000;85:3653-3660.

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64.  Mericq MV, Eggers M, Avila A, et al. Near final height in pubertal growth hormone (GH)-deficient patients treated with GH alone or in combination with luteinizing hormone-releasing hormone analog: results of a prospective, randomized trial. J Clin Endocrinol Metab. 2000;85:569-573.

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65.  Stanhope R, Albanese A, Hindmarsh P, et al. The effects of growth hormone therapy on spontaneous sexual development. Horm Res. 1992;38(suppl 1):9-13.

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66.  Porretti S, Giavoli C, Ronchi C, et al. Recombinant human GH replacement therapy and thyroid function in a large group of adult GH-deficient patients: when does L-T(4) therapy become mandatory? J Clin Endocrinol Metab. 2002;87:2042-2045.

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67.  Mehta A, Hindmarsh PC. The use of somatropin (recombinant growth hormone) in children of short stature. Paediatr Drugs. 2002;4:37-47.

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68.  Swerdlow AJ, Cooke R, Albertsson-Wikland K, et al. Description of the SAGhE cohort: a large European study of mortality and cancer incidence risks after childhood treatment with recombinant growth hormone. Horm Res Paediatr. 2015;84:172-183.

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69.  Swerdlow AJ, Higgins CD, Adlard P, et al. Risk of cancer in patients treated with human pituitary growth hormone in the UK, 1959-85: a cohort study. Lancet. 2002;360:273-277.

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70.  Ma J, Pollak MN, Giovannucci E, et al. Prospective study of colorectal cancer risk in men and plasma levels of insulin-like growth factor (IGF)-I and IGF-binding protein-3. J Natl Cancer Inst. 1999;91:620-625.

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71.  Hankinson SE, Willett WC, Colditz GA, et al. Circulating concentrations of insulin-like growth factor-I and risk of breast cancer. Lancet. 1998;351:1393-1396.

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72.  .Chan JM, Stampfer MJ, Giovannucci EL. What causes prostate cancer? A brief summary of the epidemiology. Semin Cancer Biol. 1998;8:263-273.

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73.  Furstenberger G, Senn HJ. Insulin-like growth factors and cancer. Lancet Oncol. 2002;3:298-302.

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74.  Palmqvist R, Hallmans G, Rinaldi S, et al. Plasma insulin-like growth factor 1, insulin-like growth factor binding protein 3, and risk of colorectal cancer: a prospective study in northern Sweden. Gut. 2002;50:642-646.

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75.  Khadilkar V, Radjuk KA, Bolshova E, et al. 24-month use of once-weekly GH, LB03002, in prepubertal children with GH deficiency. J Clin Endocrinol Metab. 2014;99:126-132.

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76.  Hwang JS, Lee HS, Chung WY, et al. Efficacy and safety of LB03002, a once-weekly sustained-release human GH for 12-month treatment in Korean children with GH deficiency. Eur J Endocrinol. 2013;169:179-185.

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77.  Amato G, Carella C, Fazio S, et al. Body composition, bone metabolism, and heart structure and function in growth hormone (GH)-deficient adults before and after GH replacement therapy at low doses. J Clin Endocrinol Metab. 1993;77:1671-1676.

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78.  Carroll PV, Christ ER, Bengtsson BA, et al. Growth hormone deficiency in adulthood and the effects of growth hormone replacement: a review. Growth Hormone Research Society Scientific Committee. J Clin Endocrinol Metab. 1998;83:382-395.

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79.  Maghnie M, Ghirardello S, Genovese E. Magnetic resonance imaging of the hypothalamus-pituitary unit in children suspected of hypopituitarism: who, how and when to investigate. J Endocrinol Invest. 2004;27:496-509.

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80.  Léger J, Danner S, Simon D, et al. Do all patients with childhood-onset growth hormone deficiency (GHD) and ectopic neurohypophysis have persistent GHD in adulthood? J Clin Endocrinol Metab. 2005;90:650-656.

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81.  Pellini C, di Natale B, De Angelis R, et al. Growth hormone deficiency in children: role of magnetic resonance imaging in assessing aetiopathogenesis and prognosis in idiopathic hypopituitarism. Eur J Pediatr. 1990;149:536-541.

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82.  Bozzola M, Mengarda F, Sartirana P, et al. Long-term follow-up evaluation of magnetic resonance imaging in the prognosis of permanent GH deficiency. Eur J Endocrinol. 2000;143:493-496.

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83.  Chen S, Léger J, Garel C, et al. Growth hormone deficiency with ectopic neurohypophysis: anatomical variations and relationship between the visibility of the pituitary stalk asserted by magnetic resonance imaging and anterior pituitary function. J Clin Endocrinol Metab. 1999;84:2408-2413.

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84.  Conway GS, Szarras-Czapnik M, Racz K, et al. Treatment for 24 months with recombinant human GH has a beneficial effect on bone mineral density in young adults with childhood-onset GH deficiency. Eur J Endocrinol. 2009;160:899-907.

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85.  de Boer H, Blok GJ, Van der Veen EA. Clinical aspects of growth hormone deficiency in adults. Endocrinol Rev. 1995;16:63-86.

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86.  Rosen T, Wiren L, Wilhelmsen L, et al. Decreased psychological well-being in adult patients with growth hormone deficiency. Clin Endocrinol (Oxf). 1994;40:111-116.

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87.  Attanasio AF, Shavrikova EP, Blum WF, et al. Quality of life in childhood onset growth hormone-deficient patients in the transition phase from childhood to adulthood. J Clin Endocrinol Metab. 2005;90:4525-4529.

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88.  Moock J, Albrecht C, Friedrich N, et al. Health-related quality of life and IGF-1 in GH-deficient adult patients on GH replacement therapy: analysis of the German KIMS data and the Study of Health in Pomerania. Eur J Endocrinol. 2009;160:17-24.

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89.  Colao A, Di Somma C, Spiezia S, et al. Growth hormone treatment on atherosclerosis: results of a 5-year open, prospective, controlled study in male patients with severe growth hormone deficiency. J Clin Endocrinol Metab. 2008;93:3416-3424.

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90.  Rosen T, Bengtsson BA. Premature mortality due to cardiovascular disease in hypopituitarism. Lancet. 1990;336:285-288.

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91.  Bülow B, Hagmar L, Eskilsson J, et al. Hypopituitary females have a high incidence of cardiovascular morbidity and an increased prevalence of cardiovascular risk factors. J Clin Endocrinol Metab. 2000;85:574-584.

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92.  Tomlinson JW, Holden N, Hills RK, et al. Association between premature mortality and hypopituitarism. West Midlands Prospective Hypopituitary Study Group. Lancet. 2001;357:425-431.

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93.  Møller N, Jørgensen JO. Effects of growth hormone on glucose, lipid, and protein metabolism in human subjects. Endocr Rev. 2009;30:152-177.

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94.  Growth Hormone Research Society. Consensus guidelines for the diagnosis and treatment of adults with growth hormone deficiency: summary statement of the Growth Hormone Research Society Workshop on Adult Growth Hormone Deficiency. J Clin Endocrinol Metab. 1998;83:379-381.

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95.  de Boer H, van der Veen EA. Why retest young adults with childhood-onset growth hormone deficiency? J Clin Endocrinol Metab. 1997;82:2032-2036.

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