Neuroimaging in growth hormone deficiency

Growth Hormone Therapy in Pediatrics-20 Years of KIGS

Volumn , Issue , 2007, Pages 93-107

  Maghnie, Mohamad ^a   Iorgi, Natascia ^a   Rossi, Andrea ^b   Gastaldi, Roberto ^a   Tortori Donati, Paolo ^b   Lorini, Renata ^a  

^a Department of Pediatrics ^*  (Italy)

^b UNIVERSITY OF GENOA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 51949112456     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1159/000101809     Document Type: Chapter

References (63)

1. Tortori-Donati P, Rossi A, Biancheri R: Sellar and suprasellar disorders; in Tortori-Donati P (ed): Pediatric Neuroradiology. Berlin, Springer, 2005, pp 855-891.
2. Argyropoulou MI, Xydis V, Kiortsis DN, Pantou K, Zikou A, Efremidis SC, Andronikou S: Pituitary gland signal in preterm infants during the first year of life: an MRI study. Neuroradiology 2004; 46: 1031-1035.
3. 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.
4. Fink AM, Vidmar S, Kumbla S, Pedreira CC, Kanumakala S, Williams C, Carlin JB, Cameron FJ: Age-related pituitary volumes in prepubertal children with normal endocrine function: volumetric magnetic resonance data. J Clin Endocrinol Metab 2005; 90: 3274-3278.
5. Takano K, Utsunomiya H, Ono H, Ohfu M, Okazaki M: Normal development of the pituitary gland: assessment with three-dimensional MR volumetry. AJNR Am J Neuroradiol 1999; 20: 312-315.
6. Marziali S, Gaudiello F, Bozzao A, Scire G, Ferone E, Colangelo V, Simonetti A, Boscherini B, Floris R, Simonetti G: Evaluation of anterior pituitary gland volume in childhood using three-dimensional MRI. Pediatr Radiol 2004; 34: 547-551.
7. Bressani N, di Natale B, Pellini C, Triulzi F, Scotti G, Chiumello G: Evidence of morphological and functional abnormalities in the hypothalamus of growth-hormone-deficient children: a combined magnetic resonance imaging and endocrine study. Horm Res 1990; 34: 189-192.
8. Maghnie M, Triulzi F, Larizza D, Preti P, Priora C, Scotti G, Severi F: Hypothalamic-pituitary dysfunction in growth hormone-deficient patients with pituitary abnormalities. J Clin Endocrinol Metab 1991; 73: 79-83.
9. Abrahams JJ, Trefelner E, Boulware SD: Idiopathic growth hormone deficiency: MR findings in 35 patients. AJNR Am J Neuroradiol 1991; 12: 155-160.
10. Argyropoulou M, Perignon F, Brauner R, Brunelle F: Magnetic resonance imaging in the diagnosis of growth hormone deficiency. J Pediatr 1992; 120: 886-891.
11. Triulzi F, Scotti G, di Natale B, Pellini C, Lukezic M, Scognamiglio M, Chiumello G: Evidence of a congenital midline brain anomaly in pituitary dwarfs: a magnetic resonance imaging study in 101 patients. Pediatrics 1993; 93: 409-416.
12. Pinto G, Netchine I, Sobrier ML, Brunelle F, Souberbielle JC, Brauner R: Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis. J Clin Endocrinol Metab 1997; 82: 3450-3454
13. Nagel BHP, Palmbach M, Petersen D, Ranke MB: Magnetic resonance images of 91 children with different causes of short stature: pituitary size reflects growth hormone secretion. Eur J Pediatr 1997; 156: 758-763.
14. Kornreich L, Horev G, Lazar L, Josefsberg Z, Pertzelan A: MR findings in hereditary isolated growth hormone deficiency. AJNR Am J Neuroradiol 1997; 18: 1743-1747.
15. Hamilton J, Chitayat D, Blaser S, Cohen LE, Phillips JA, Daneman D: Familial growth hormone deficiency associated with MRI abnormalities. Am J Med Genet 1998;80:128-132.
16. Arifa N, Léger J, Garel C, Czernichow P, Hassan M: Cerebral anomalies associated with growth hormone insufficiency in children: major markers for diagnosis? Arch Pediatr 1999; 6: 14-21.
17. Bozzola M, Mengarda F, Sartirana P, Tato L, Chaussain JL: Long-term follow-up evaluation of magnetic resonance imaging in the prognosis of permanent GH deficiency. Eur J Endocrinol 2000; 143: 493-496.
18. Osorio MG, Marui S, Jorge AA, Latronico AC, Lo LS, Leite CC, Estefan V, Mendonca BB, Arnhold IJ: Pituitary magnetic resonance imaging and function in patients with growth hormone deficiency with and without mutations in GHRH-R, GH-1, or Prop-1 genes. J Clin Endocrinol Metab 2002; 87: 5076-5084.
19. Arends NJT, V d Lip W, Robben SGF, Hokken-Koelega ACS: MRI findings of the pituitary gland in short children born small for gestational age (SGA) in comparison with growth hormonedeficient (GHD) children and children with normal stature. Clin Endocrinol (Oxf) 2002; 57: 719-724.
20. Maghnie M, Loche S, Cappa M: Pituitary magnetic resonance imaging in idiopathic and genetic growth hormone deficiency. J Clin Endocrinol Metab 2003; 88: 1911-1912.
21. Cacciari E, Zucchini S, Ambrosetto P, Tani G, Carla G, Cicognani A, Pirazzoli P, Sganga T, Balsamo A, Cassio A, Zappulla F: Empty sella in children and adolescents with possible hypothalamic-pituitary disorders. J Clin Enocrinol Metab 1994; 780: 767-771.
22. Maghnie M, Genovese E, Villa A, Spagnolo L, Campani R, Severi F: Dynamic MRI in the congenital agenesis of the neural pituitary stalk syndrome: the role of the vascular pituitary stalk in predicting residual anterior pituitary function. Clin Endocrinol (Oxf) 1996; 45: 281-290.
23. Genovese E, Maghnie M, Beluffi G, Villa A, Sammarchi L, Severi F, Campani R: Hypothalamic-pituitary vascularization in the pituitary stalk transection syndrome: is the pituitary stalk really transected? The role of gadolinium-DTPA with spin-echo T 1 imaging and turbo-FLASH technique. Pediatr Radiol 1997; 27: 48-53.
24. Mullis PE: Genetic control of growth. Eur J Endocrinol 2005; 52: 11-31.
25. Binder G, Nagel BH, Ranke MB, Mullis PE: Isolated GH deficiency (IGHD) type II: imaging of the pituitary gland by magnetic resonance reveals characteristic differences in comparison with severe IGHD of unknown origin. Eur J Endocrinol 2002; 147: 755-760.
26. Besson A, Salemi S, Deladoey J, et al: Short stature caused by a biologically inactive mutant growth hormone (GHC53S). J Clin Endocrinol Metab 2005; 90: 2493-2499.
27. Mullis PE, Robinson IC, Salemi S, Eble A, Besson A, Vuissoz JM, Deladoey J, Simon D, Czernichow P, Binder G: Isolated autosomal dominant growth hormone deficiency: an evolving pituitary deficit? A multicenter follow-up study. J Clin Endocrinol Metab 2005; 90: 2089-2096.
28. Salemi S, Yousefi S, Baltensperger K, Robinson IC, Eble A, Simon D, Czernichow P, Binder G, Sonnet E, Mullis PE: 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.
29. Oliveira HA, Salvatori R, Krauss MP, Oliveira CR, Silva PR, Aguiar-Oliveira MH: Magnetic resonance imaging study of pituitary morphology in subjects homozygous for a null mutation of the growth hormone releasing hormone receptor gene. Eur J Endocrinol 2003; 148: 427-432.
30. Kornreich L, Horev G, Schwarz M, Karmazyn B, Laron Z: Pituitary size in patients with Laron syndrome (primary GH insensitivity). Eur J Endocrinol 2003; 148: 339-341.
31. Tatsumi K, Miyai K, Notomi T, Kaibe K, Amino N, Mizuno Y, Kohno H: Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. Nat Genet 1992; 1: 56-58.
32. Dattani MT: Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? Clin Endocrinol (Oxf) 2005; 63: 121-130.
33. Cohen LE, Radovick S: Molecular basis of combined pituitary hormone deficiencies. Endocr Rev 2002; 23: 431-442.
34. Bottner A, Keller E, Kratzsch J, Stobbe H, Weigel JF, Keller A, Hirsch W, Kiess W, Blum WF, Pfaffle RW: PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis. J Clin Endocrinol Metab 2004; 89: 5256-5265.
35. Pfäffle R, Blankenstein O, Wüller S, Heimann K, Heimann G: Pituitary transcription factors, POU1F1 and Prop-1 defects; in Rappaport R, Amselem S (eds): Hypothalamic-pituitary development. Karger, Basel, 2001, pp 61-67.
36. Fofanova O, Takamura N, Kinoshita E, Vorontsov A, Vladimirova V, Dedov I, Peterkova V, Yamashita S: MR imaging of the pituitary gland in children and young adults with congenital combined pituitary hormone deficiency associated with Prop-1 mutations. Am J Roentgenol 2000; 174: 555-559.
37. Riepe FG, Partsch CJ, Blankenstein O, Mönig H, Pfäffle RW, Sippell WG: Longitudinal imaging reveals pituitary enlargement preceding hypoplasia in two brothers with combined pituitary hormone deficiency attributable to Prop-1 mutation. J Clin Endocrinol Metab 2001; 86: 4353-4357.
38. Teinturier C, Vallette S, Adamsbaum C, Bendaoud M, Brue T, Bougnères PF: Pseudotumor of the pituitary due to Prop-1 deletion. J Ped Endocrinol Metab 2002; 15: 95-101.
39. Vallette-Kasic S, Barlier A, Teinturier C, Diaz A, Manavela M, Berthezene F, Bouchard P, Chaussain JL, Brauner R, Pellegrini-Bouiller I, Jaquet P, Enjalbert A, Brue T: Prop-1 gene screening in patients with multiple pituitary hormone deficiency reveals two sites of hypermutability and a high incidence of corticotroph deficiency. J Clin Endocrinol Metab 2001; 86: 4529-4535.
40. Turton JP, Mehta A, Raza J, Woods KS, Tiulpakov A, Cassar J, Chong K, Thomas PQ, Eunice M, Ammini AC, Bouloux PM, Starzyk J, Hindmarsh PC, Dattani MT: 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.
41. Voutetakis A, Argyropoulou M, Sertedaki A, Livadas S, Xekouki P, Maniati-Christidi M, Bossis I, Thalassinos N, Patronas N, Dacou-Voutetakis C: Pituitary magnetic resonance imaging in 15 patients with Prop1 gene mutations: pituitary enlargement may originate from the intermediate lobe. J Clin Endocrinol Metab 2004; 89: 2200-2206.
42. Ward RD, Raetzman LT, Suh H, Stone BM, Nasonkin IO, Camper SA: Role of PROP1 in pituitary gland growth. Mol Endocrinol 2005; 19: 698-710.
43. Dattani MT, Robinson IC: Hesx1 and septo-optic dysplasia. Rev Endocrinol Metab Disord 2002; 3: 289-300.
44. Carvalho LR, Woods KS, Mendonca BB, Marcal N, Zamparini AL, Stifani S, Brickman JM, Arnhold IJ, Dattani MT: A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction. J Clin Invest 2003; 112: 1192-1201.
45. Cohen RN, Cohen LE, Botero D, Yu C, Sagar A, Jurkiewicz M, Radovick S: Enhanced repression by HESX1 as a cause of hypopituitarism and septo-optic dysplasia. J Clin Endocrinol Metab 2003; 88: 4832-4839.
46. Sobrier ML, Netchine I, Heinrichs C, Thibaud N, Vie-Luton MP, Van Vliet G, Amselem S: Alu-element insertion in the homeodomain of HESX1 and aplasia of the anterior pituitary. Hum Mutat 2005; 25: 503-511.
47. Sobrier ML, Maghnie M, Vié-Luton MP, Secco A, Di Iorgi N, Amselem S: Novel HESX1 mutations are associated with life-threatening neonatal phenotype, anterior pituitary aplasia, normally located posterior pituitary and developmental defects in the absence of optic nerve abnormalities. Proc ESPE 7th Joint Meet, Lyon, 2005, p 2751.
48. Netchine I, Sobrier ML, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V, Moers A, Goossens M, Gruters A, Amselem S: Mutations in Lhx3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nat Genet 2000; 25: 182-186.
49. Palme C, Bellone F, Schonau E, et al: Frequency and phenotype of panhypopituitarism due to LHX-3 gene defects. Proc 42nd ESPE Meet, Ljubljana, 2003, p 1137.
50. Bhangoo AP, Hunter CS, Savage JJ, Anhalt H, Pavlakis S, Walvoord EC, Ten S, Rhodes SJ: Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency. J Clin Endocrinol Metab 2006; 91: 747-753.
51. Machinis K, Pantel J, Netchine I, Leger J, Camand OJ, Sobrier ML, Dastot-Le Moal F, Duquesnoy P, Abitbol M, Czernichow P, Amselem S: Syndromic short stature in patients with a germline mutation in the LIM homeobox. Am J Hum Genet 2001; 69: 961-968.
52. Roessler E, Du YZ, Mullor JL, Casas E, Allen WP, Gillessen-Kaesbach G, Roeder ER, Ming JE, Ruiz i Altaba A, Muenke M: Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proc Natl Acad Sci USA 2003; 100: 13424-13429.
53. Rizzoti K, Brunelli S, Carmignac D, Thomas PQ, Robinson IC, Lovell-Badge R: SOX3 is required during the formation of the hypothalamo-pituitary axis. Nat Genet 2004; 36: 247-255.
54. Laumonnier F, Ronce N, Hamel BC, Thomas P, Lespinasse J, Raynaud M, Paringaux C, Van Bokhoven H, Kalscheuer V, Fryns JP, Chelly J, Moraine C, Briault S: Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet 2002; 71: 1450-1455.
55. Solomon NM, Nouri S, Warne GL, Lagerstrom-Fermer M, Forrest SM, Thomas PQ: Increased gene dosage at Xq26-q27 is associated with X-linked hypopituitarism. Genomics 2002; 79: 553-559.
56. Woods KS, Cundall M, Turton J, Rizotti K, Mehta A, Palmer R, Wong J, Chong WK, Al-Zyoud M, El-Ali M, Otonkoski T, Martinez-Barbera JP, Thomas PQ, Robinson IC, Lovell-Badge R, Woodward KJ, Dattani MT: Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. Am J Hum Genet 2005; 76: 833-849.
57. Kelberman D, Rizzoti K, Avilion A, Bitner-Glindzicz M, Cianfarani S, Collins J, Chong WK, Kirk JM, Achermann JC, Ross R, Carmignac D, Lovell-Badge R, Robinson IC, Dattani MT: Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamopituitary-gonadal axis in mice and humans. J Clin Invest 2006;116:2442-2455.
58. Maghnie M, Strigazzi C, Tinelli C, Autelli M, Cisternino M, Loche S, Severi F: Growth hormone (GH) deficiency (GHD) of childhood onset: reassessment of GH status and evaluation of the predictive criteria for permanent GHD in young adults. J Clin Endocrinol Metab 1999; 84: 1324-1328.
59. Adan L, Souberbielle JC, Brauner R: Diagnostic markers of permanent idiopathic growth hormone deficiency. J Clin Endocrinol Metab 1994; 78: 353-358.
60. Leger J, Danner S, Simon D, Garel C, Czernichow P: 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.
61. Maghnie M, Aimaretti G, Bellone S, Bona G, Bellone J, Baldelli R, de Sanctis C, Gargantini L, Gastaldi R, Ghizzoni L, Secco A, Tinelli C, Ghigo E: Diagnosis of GH deficiency in the transition period: accuracy of insulin tolerance test and insulin-like growth factor-I measurement. Eur J Endocrinol 2005; 152: 589-596.
62. Maghnie M, Uga E, Temporini F, Di Iorgi N, Secco A, Tinelli C, Papalia A, Casini MR, Loche S: Evaluation of adrenal function in patients with growth hormone deficiency and hypothalamicpituitary disorders: comparison between insulin-induced hypoglycemia, low-dose ACTH, standard ACTH and CRH stimulation tests. Eur J Endocrinol 2005; 152: 735-741.
63. Coutant R, Rouleau S, Despert F, Magontier N, Loisel D, Limal JM: Growth and adult height in GH-treated children with non-acquired GH deficiency and idiopathic short stature: the influence of pituitary magnetic resonance imaging findings. J Clin Endocrinol Metab 2001; 86: 4649-4654.