Recombinant human GH replacement therapy in children with pseudohypoparathyroidism type Ia: First study on the effect on growth

Journal of Clinical Endocrinology and Metabolism

Volumn 95, Issue 11, 2010, Pages 5011-5017

  Mantovani, Giovanna ^a   Ferrante, Emanuele ^a   Giavoli, Claudia ^a   Linglart, Agnes ^b   Cappa, Marco ^c   Cisternino, Mariangela ^d   Maghnie, Mohamad ^e   Ghizzoni, Lucia ^f   De Sanctis, Luisa ^g   Lania, Andrea G ^a   Beck Peccoz, Paolo ^a   Spada, Anna ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b INSERM   (France)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d UNIVERSITY OF PAVIA   (Italy)

^e UNIVERSITY OF GENOA   (Italy)

^f UNIVERSITY OF TURIN   (Italy)

^g UNIVERSITY OF TURIN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ESTROGEN; RECOMBINANT GROWTH HORMONE;

ADULT; ARTICLE; BODY HEIGHT; CHILD; CLINICAL ARTICLE; CLINICAL TRIAL; DRUG EFFECT; DRUG EFFICACY; ESTROGEN BLOOD LEVEL; ESTROGEN SYNTHESIS; FEMALE; GROWTH HORMONE DEFICIENCY; HUMAN; MALE; PATIENT MONITORING; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; PSEUDOHYPOPARATHYROIDISM TYPE IA; PUBERTY; SCHOOL CHILD; SUBSTITUTION THERAPY; TREATMENT DURATION;

EID: 78049515805     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2010-1649     Document Type: Article

References (24)

1. Albright F, Burnett CH, Smith PH, Parson W 1942 Pseudohypoparathyroidism- an example of "Seabright Bantam syndrome." Endocrinology 30:922-932
2. Weinstein LS 1998 Albright hereditary osteodystrophy, pseudohypoparathyroidism, and Gs deficiency. In: Spiegel AM, ed. G proteins, receptors, and disease. Totowa, NJ: Humana Press; 23-56
3. Aldred MA, Trembath RC 2000 Activating and inactivating mutations in the human GNAS1 gene. Hum Mutat 16:183-189
4. Weinstein LS, Yu S, Warner DR, Liu J 2001 Endocrine manifestations of stimulatory G protein α-subunit mutations and the role of genomic imprinting. Endocr Rev 22:675-705 (Pubitemid 32955250)
5. Lania A, Mantovani G, Spada A 2001 G protein mutations in endocrine diseases. Eur J Endocrinol 145:543-559
6. Hayward BE, Barlier A, Korbonits M, Grossman AB, Jacquet P, Enjalbert A, Bonthron DT 2001 Imprinting of the Gαs gene GNAS1 in the pathogenesis of acromegaly. J Clin Invest 107:R31-R36
7. Mantovani G, Ballare E, Giammona E, Beck-Peccoz P, Spada A 2002 The Gsα gene: predominant maternal origin of transcription in human thyroid gland and gonads. J Clin Endocrinol Metab 87:4736-4740
8. Germain-Lee EL, Ding CL, Deng Z, Crane JL, Saji M, Ringel MD, Levine MA 2002 Paternal imprinting of Gα(s) in the human thyroid as the basis of TSH resistance in pseudohypoparathyroidism type 1a. Biochem Biophys Res Commun 296:67-72
9. Nakamoto JM, Sandstrom AT, Brickman AS, Christenson RA, Van Dop C 1998 Pseudohypoparathyroidism type Ia from maternal but not paternal transmission of a Gsα gene mutation. Am J Med Genet 77:261-267
10. Weinstein LS, Yu S 1999 The role of genomic imprinting of Gsα in the pathogenesis of Albright's hereditary osteodystrophy. Trends Endocrinol Metab 10:81-85
11. Shima M, Nose O, Shimizu K, Seino Y, Yabuuchi H, Saito T 1988 Multiple associated endocrine abnormalities in a patient with pseudohypoparathyroidism type Ia. Eur J Pediatr 147:536-538
12. Scott DC, Hung W 1995 Pseudohypoparathyroidism type Ia and growth hormone deficiency in two siblings. J Pediatr Endocrinol Metab 8:205-207
13. Kaji M, Umeda K, Ashida M, Tajima T 2001 A case of pseudohypoparathyroidism type Ia complicated with growth hormone deficiency: recovery of growth hormone secretion after vitamin D therapy. Eur J Pediatr 160:679-681
14. Faull CM, Welbury RR, Paul B, Kendall-Taylor P 1991 Pseudohypoparathyroidism: its phenotypic variability and associated disorders in a large family. QJM 78:251-264
15. Mantovani G, Maghnie M, Weber G, De Menis E, Brunelli V, Cappa M, Loli P, Beck-Peccoz P, Spada A 2003 Growth hormone-releasing hormone resistance in pseudo-hypoparathyroidism type Ia: new evidence for imprinting of the Gsα gene. J Clin Endocrinol Metab 88:4070-4074
16. Germain-Lee EL, Groman J, Crane JL, Jan de Beur SM, Levine MA 2003 Growth hormone deficiency in pseudohypoparathyroidism type 1a: another manifestation of multihormone resistance. J Clin Endocrinol Metab 88:4059-4069
17. Mantovani G, Romoli R, Weber G, Brunelli V, De Menis E, Beccio S, Beck-Peccoz P, Spada A 2000 Mutational analysis of GNAS1 in patients with pseudohypoparathyroidism: identification of two novel mutations. J Clin Endocrinol Metab 85:4243-4248
18. Linglart A, Carel JC, Garabédian M, Lé T, Mallet E, Kottler ML 2002 GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance. J Clin Endocrinol Metab 87:189-197
19. Mantovani G, de Sanctis L, Barbieri AM, Elli FM, Bollati V, Vaira V, Labarile P, Bondioni S, Peverelli E, Lania AG, Beck-Peccoz P, Spada A 2010 Pseudohypoparathyroidism and GNAS epigenetic defects: clinical evaluation of Albright hereditary osteodystrophy and molecular analysis in 40 patients. J Clin Endocrinol Metab 95:651-658
20. de Sanctis L, Bellone J, Salerno M, Faleschini E, Caruso-Nicoletti M, Cicchetti M, Concolino D, Balsamo A, Buzi F, Ghizzoni L, de Sanctis C 2007 GH secretion in a cohort of children with pseudohypoparathyroidism type Ia. J Endocrinol Invest 30:97-103
21. Bastepe M, Weinstein LS, Ogata N, Kawaguchi H, Jüppner H, Kronenberg HM, Chung UI 2004 Stimulatory G protein directly regulates hypertrophic differentiation of growth plate cartilage in vivo. Proc Natl Acad Sci USA 101:14794-14799
22. Sakamoto A, Chen M, Kobayashi T, Kronenberg HM, Weinstein LS 2005 Chondrocyte-specific knockout of the G protein G(s)α leads to epiphyseal and growth plate abnormalities and ectopic chondrocyte formation. J Bone Miner Res 20:663-671 (Pubitemid 40393075)
23. Cappa M, Bizzarri C, Colabianchi D, Ubertini G, Digilio MC, Cambiaso P 2003 Growth and pubertal growth spurt in dysmorphic syndromes. J Pediatr Endocrinol Metab 16:317-320
24. Scalco RC, Melo SS, Pugliese-Pires PN, Funari MF, Nishi MY, Arnhold IJ, Mendonca BB, Jorge AA 2010 Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency. J Clin Endocrinol Metab 95:328-332