Developmental syndromes: Growth hormone deficiency and treatment

Endocrine Development

Volumn 14, Issue , 2009, Pages 114-134

  Mazzanti, Laura ^a   Tamburrino, Federica ^a   Bergamaschi, Rosalba ^a   Scarano, Emanuela ^a   Montanari, Francesca ^a   Torella, Michele ^a   Ballarini, Elisa ^a   Cicognani, Alessandro ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GONADORELIN AGONIST; GROWTH HORMONE; RECOMBINANT GROWTH HORMONE; HUMAN GROWTH HORMONE;

ACHONDROPLASIA; APNEA; AUTOIMMUNE HEMOLYTIC ANEMIA; BONE DYSPLASIA; CELL GROWTH; CLINICAL FEATURE; CLINICAL TRIAL; CONFERENCE PAPER; COST BENEFIT ANALYSIS; DEVELOPMENTAL DISORDER; DOSE RESPONSE; DRUG FATALITY; DRUG INDICATION; DRUG MEGADOSE; DRUG WITHDRAWAL; DYSCHONDROSTEOSIS; ELLIS VAN CREVELD SYNDROME; FLOATING HARBOR SYNDROME; GROWTH DISORDER; GROWTH HORMONE DEFICIENCY; GROWTH HORMONE RELEASE; HORMONE ACTION; HORMONE SUBSTITUTION; HUMAN; HYPOCHONDROPLASIA; KABUKI MAKEUP SYNDROME; NOONAN SYNDROME; PALLISTER HALL SYNDROME; PRADER WILLI SYNDROME; PRIORITY JOURNAL; PUBERTY DISORDERS; RECOMMENDED DRUG DOSE; SCOLIOSIS; SEPTOOPTIC DYSPLASIA; SHORT STATURE; SILVER RUSSELL SYNDROME; TREATMENT RESPONSE; TURNER SYNDROME; MENTAL DEFICIENCY; PATHOPHYSIOLOGY; REVIEW; SYNDROME;

GROWTH DISORDERS; HUMAN GROWTH HORMONE; HUMANS; MENTAL RETARDATION; SYNDROME;

EID: 65549153684     PISSN: 14217082     EISSN: 16622979     Source Type: Book Series    
DOI: 10.1159/000207481     Document Type: Conference Paper

References (28)

1. Mazzanti L, Nizzoli G, Tassinari D, Bergamaschi R, Magnani C, Chiumello G, Cacciari E: Spontaneous growth and pubertal development in Turner's syndrome with different karyotypes. Acta Paediatr 1994;83:299-304.
2. Pirazzoli P, Mazzanti L, Bergamaschi R, Perri A, Scarano E, Nanni S, Zucchini S, Gualandi S, Cicognani A, Cacciari E: Reduced spontaneous growth hormone secretion in patients with Turner's syndrome. Acta Paediatr 1999;88:610-613.
3. Wasniewska M, De Luca F, Bergamaschi R, Guarneri MP, Mazzanti L, Matarazzo P, Petri A, Crisafulli G, Salzano G, Lombardo F: Early treatment with GH alone in Turner syndrome: prepubertal catch-up growth and waning effect. Eur J Endocrinol 2004; 151:567-572.
4. Davenport ML, Crowe BJ, Travers SH, Rubin K, Ross JL, Fechner PY, Gunther DF, Liu C, Geffner ME, Thrailkill K, Huseman C, Zagar AJ, Quigley CA: Growth hormone treatment of early growth failure in toddlers with Turner syndrome: a randomized, controlled, multicentric trial. J Clin Endocrinol Metab 2007;92:3406-3416.
5. van Parenen YK, de Muinck Keizer-Schrama SMPF, Stijnen T, Sas TCJ, Jansen M, Otten BJ, Hoorwed-Nijman JJG, Vulsma T, Stokvis-Brantsma WH, Rouwe C W, Reeser HM, Gerver WJ, Gosen JJ, Rongen-Westerlaken C, Drop SLS: Final height in girl with Turner syndrome after long-term growth hormone treatment in three dosages and low estrogens. J Clin Endocrinol Metab 2003;88:1119-1125.
6. The Canadian Growth Hormone Advisory Committee: Impact of growth hormone supplementation on adult height in Turner syndrome: results of the Canadian Randomized Controlled Trial. J Clin Endocrinol Metab 2005;90:3360-3366.
7. Osio D, Dahlgren J, Wikland KA, Westphal O: Improved final height with long-term growth hormone treatment in Noonan syndrome. Acta Paediatr 2005;94:1232-1237.
8. Otten J, Noordam K: Short Stature in Noonan Syndrome: Results of Growth Hormone Treatments. Growth Hormone in Pediatrics - 20 years of KIGS. Basel, Karger, 2007, pp 347-355.
9. Binder G, Neuer K, Ranke MB, Wittekindt NE: PTPN11 mutations are associated with mild growth Hormone resistance in individuals with Noonan Syndrome. J Clin Endocrinol Metab 2005;90:5377-5381.
10. Brown DC, Macfarlane CE, McKenna WJ, Patton MA, Dunger DB, Savage MO, Kelnar CJ: Growth hormone therapy in Noonan's syndrome: non-car-diomyopathic congenital heart disease does not adversely affect growth improvement. J Pediatr Endocrinol Metab 2002;15:851-852.
11. Lee PDK, Allen DB, Angulo MA, Cappa M, Carrel AL, Castro-Magana M, Chiumello G: Consensus statement - Prader-Willi syndrome: growth hormone (GH)/Insulin-like growth factor axis deficiency and GH treatment. Endocrinologist 2000;10: 71S-73S.
12. Grugni G, Crinò A, Bosio L, et al: Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology (ISPED). The Italian National Survey for Prader-Willi syndrome: an epidemiologic study. Am J Med Genet [A] 2008; 146:861-872.
13. Tauber M, Diene G, Molinas C, Hebert M: Review of 54 cases of death in children with Prader Willi syndrome. Am J Med Genet 2008;146A:881-887.
14. Wieczorek D, Wusthof A, Harms E, Meinecke P: Floating-harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other. Am J Med Genet 2001;104:47-52.
15. Cannavo S, Bartolone L, Lapa D, Venturino M, Almoto B, Violi A, Trimarchi F: Abnormalities of GH secretion in a young girl with Floating-Harbor syndrome. Ital Endocrinol Invest 2002;25:58-64.
16. Gabrielli O, Bruni S, Bruschi B, Carloni I, Coppa GV: Kabuki syndrome and growth hormone deficiency: description of a case treated by long-term hormone replacement. Clin Dysmorphol 2002;11: 71-72.
17. Tawa R, Kaino Y, Ito T, Goto Y, Kida K, Matsuda H: A case of Kabuki make-up syndrome with central diabetes insipidus and growth hormone neurose-cretory dysfunction. Acta Paediatr Jpn 1994;36:412-415.
18. Johnston JJ, Olivos-Glander I, Killoran C, et al: Molecular and clinical analyses of Greig cephalopoly-syndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutation. Am J Hum Genet 2005;76:609-622.
19. Zucchini S, Mazzanti L, Ambrosetto P, Salardi S, Cacciari E: Usual magnetic resonance imaging findings of the sella region in subjects with hypopitu-itarism: report of 4 cases. J Pediatr Endocrinol Metab 1998;11:35-44.
20. Galasso C, Scirè G, Fabbri F, Spadoni GL, Killoran CE, Biesecker LG, Boscherini B: Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. Am J Med Geent 2001;99:128-131.
21. Stanhope R, Albanese A, Azcona C: Growth hormone treatment of Russell-Silver syndrome. Horm Res 1998;49:37-40.
22. Binder G, Seidel AK, Martin D, Schweizer R, Schwarze C, Wollmann H, Heggerman T, Ranke M: The endocrine phenotype in Silver-Russell syndrome is defined by the underlying epigenetic alteration? J Clin Endocrinol Metab 2008;93:1402-1407.
23. Hertel NT, Eklöf O, Ivarsson S, Aronson S, Westphal O, Sipilä I, Kaitila I, Bland J, Veimo D, Müller J, Mohnike K, Neumeyer L, Ritzen M, Hagenäs L: Growth hormone treatment in 35 prepubertal children with achondroplasia: a five-year dose-response trial. Acta Paediatr 2005;94:1402-1410.
24. Tanaka H, Kubo T, Yamate T, Ono T, Kanzaki S, Seino Y: Effect of growth hormone therapy in children with achondroplasia: growth pattern, hypotha-lamic-pituitary function, and genotype. Eur J Endocrinol 1998;138:275-280.
25. Hertel T: Growth hormone treatment in skeletal dysplasia: the KIGS experience; in Ranke MB, Price DA, Reiter EO (eds): Growth Hormone Therapy in Pediatrics - 20 Years of KIGS. Basel, Karger, 2007, pp 356-368.
26. Pirazzoli P, Mazzanti L, Mandini M, Cau M, Ravagli L, Cacciari E: GH-deficiency in Ellis-vanCreveld Sindrome: Response to Replacement Therapy; in Bierich JR, Cacciari E, Raiti S (eds): Growth Abnormalities. Serono Symposia. New York, Raven Press, 1989, vol 56, pp 391-394.
27. Versteegh FG, Buma SA, Costin G, de Jong WC, Hennekam RC: Growth hormone analysis and treatment in Ellis-van Creveld syndrome, EvC Working Party. Am J Med Genet [A] 2007;143:2113-2121.
28. Blum WF, Crowe BJ, Quigley CA, Jung H, Cao D, Ross JL, Braun L, Rappold G: SHOX Study Group. Growth hormone is effective in treatment of short stature associated with short stature homeobox-containing gene deficiency: two-year results of a randomized, controlled, multicenter trial. J Clin Endocrinol Metab 2007;92:219-228.