High prevalence of pituitary magnetic resonance abnormalities and gene mutations in a cohort of Brazilian children with growth hormone deficiency and response to treatment

Journal of Pediatric Endocrinology and Metabolism

Volumn 21, Issue 7, 2008, Pages 673-680

  Rocha, Manuela Giuliani Marcondes ^a   Marchisotti, Frederico Guimarães ^a   Osório, Maria Geralda Farah ^a   Marui, Suemi ^a   Carvalho, Luciani Renata Silveira ^a   De Lima Jorge, Alexander Augusto ^a   Mendonca, Berenice Bilharinho ^a   Arnhold, Ivo Jorge Prado ^a  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

GH treatment; Growth hormone (GH) deficiency; Magnetic resonance imaging; Mutations; Short stature

Indexed keywords

CLONIDINE; GADOLINIUM; GONADORELIN; GROWTH HORMONE; GROWTH HORMONE RELEASING FACTOR RECEPTOR; INSULIN; PROTIRELIN; TRANSCRIPTION FACTOR HESX1;

ADOLESCENT; ARTICLE; BODY HEIGHT; BONE AGE; BRAZIL; CATCH UP GROWTH; CHILD; COHORT ANALYSIS; DRUG RESPONSE; FEMALE; GENE MUTATION; GROWTH CURVE; GROWTH HORMONE DEFICIENCY; HOMOZYGOSITY; HORMONE SUBSTITUTION; HUMAN; HYPOPHYSIS DISEASE; IMMUNOFLUORESCENCE TEST; IMMUNORADIOMETRIC ASSAY; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NUCLEAR MAGNETIC RESONANCE IMAGING; PREVALENCE; RETROSPECTIVE STUDY;

EID: 51349145597     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2008.21.7.673     Document Type: Article

References (26)

1. 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. [Reprinted in J Pediatr Endocrinol Metab 2001; 14: 377-382.]
2. Saggese G, Ranke MB, Saenger P, Rosenfeld RG, Tanaka T, Chaussain JL, Savage MO. Diagnosis and treatment of growth hormone deficiency in children and adolescents; towards a consensus. Horm Res 1998; 50: 30-340.
3. Júnior CEM, Oliveira CRP, Brito AVO, Costa FO, Silva PRC, Serpa MG, Aguiar-Oliveira MH. Diagnosis of growth hormone (IGF-I) deficiency. Arq Bras Endocrinol Metab 2002; 46: 27-33.
4. Pandian R, Nakamoto JM. Rational use of the laboratory for childhood and adult growth hormone deficiency. Clin Lab Med 2004; 24: 141-174.
5. Marui S, Souza SLC, Carvalho LRS, Jorge AAL, Mendonca BB, Arnhold IJP. The genetic base of growth abnormalities. Arq Bras Endocrinol Metab 2002; 46: 444-456.
6. Dattani MT. Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? Clin Endocrinol (Oxf) 2005; 63: 121-130.
7. Sandberg DE, MacGillivray MH. Growth hormone therapy in childhood onset growth hormone deficiency: adult anthropometric and psychological outcomes. Endocrine 2000; 12: 173-182.
8. Grumbach MM, Bin-Abbas BS, Kaplan SL. The growth hormone cascade: progress and long-term results of growth hormone treatment in growth hormone deficiency. Horm Res 1998; 49: 41-57.
9. Guyda HJ. Four decades of growth hormone therapy for short children: what have we achieved? J Clin Endocrinol Metab 1999; 84: 4307-4316.
10. Tanner JM, Whitehouse RH, Takaishi M. Standards from birth to maturity for height, weight, height velocity, and weight velocity: British children. Arch Dis Child 1966; 41: 613-635.
11. Greulich WN, Pyle SI. Radiographic Atlas of Skeletal Development of the Hand and Wrist, 2nd Ed. Stanford, CA: Stanford University Press, 1959.
12. Marshall WA, Tanner JM. Variation in the pattern of pubertal changes in girls. Arch Dis Child 1969; 44: 291-303.
13. Marshall WA, Tanner JM. Variation in the pattern of pubertal changes in boys. Arch Dis Child 1970; 45: 13-23.
14. Niklasson A, Ericson A, Fryer JG, Karlberg J, Lawrence C, Karlberg P. An update of the Swedish reference standards for weight, length and head circumference at birth for given gestational age (1977-1981). Acta Paediatr Scand 1991; 80: 756-762.
15. Reiter EO, Rosenfeld RG. Normal and aberrant growth. In: Larsen PR, Kronenberg HM, Melmed S, Polonsky KS, eds. Williams Textbook of Endocrinology. Philadelphia, PA: Elsevier Science, 2003; 1008.
16. Ranke MB. Towards a consensus on the definition of idiopathic short stature. Horm Res 1996; 45: 64-66.
17. Silva EGP, Slhessarenko N, Arnhold IJP, Batista MC, Estefan V, Osorio MGF, Marui S, Mendonca BB. GH values after clonidine stimulation measured by immunofluorometric assay in normal prepubertal children and GH-deficient patients. Horm Res 2003; 59: 229-233.
18. Argyropoulou M, Perignon F, Brunelle F, Brauner R, Rappaport R. Height of normal pituitary gland as a function of age evaluated by magnetic resonance imaging in children. Pediatr Radiol 1991; 21: 247-249.
19. Osório MGF, Marui S, Jorge AAL, Latronico AC, Lo LSS, Leite CC, Estefan V, Mendonca BB, Arnhold IJP. 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.
20. Melo ME, Marui S, Carvalho LR, Arnhold IJ, Leite CC, Mendonca BB, Knoepfelmacher M. Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe. Clin Endocrinol (Oxf) 2007; 66: 95-102.
21. 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.
22. Papp Z. Breech deliveries and cesarean section. J Perinat Med 2003; 31 (Suppl 5): 415-419.
23. Cruickshank DP. Breech presentation. Clin Obstet Gynecol 1986; 29: 255-263.
24. Lowry CA, Donoghue VB, O'Herlihy C, Murphy JF. Elective cesarean section is associated with a reduction in developmental dysplasia of the hip in term breech infants. J Bone Joint Surg Br 2005; 87 (Suppl 7): 984-985.
25. Cunningham FG, Gant NF, Leveno KJ, et al. Williams Obstetrics, 21st Ed. New York: McGraw-Hill, 2001.
26. Ullery JC. Obstetric malpresentations. Hosp Med 1967; Dec: 22-29.