M O Savage

Summary

Affiliation: Queen Mary
Country: UK

Publications

  1. doi request reprint Abnormal growth in noonan syndrome: genetic and endocrine features and optimal treatment
    Raja Padidela
    Department of Endocrinology, Barts and London School of Medicine and Dentistry, London, UK
    Horm Res 70:129-36. 2008
  2. doi request reprint Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, London, UK
    Endocr Dev 14:143-50. 2009
  3. pmc Pediatric Cushing's disease: Management Issues
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    Indian J Endocrinol Metab 16:S171-5. 2012
  4. pmc Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry London, UK
    Front Endocrinol (Lausanne) 2:95. 2011
  5. pmc The variability of responses to growth hormone therapy in children with short stature
    Martin O Savage
    Department of pediatric endocrinology William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    Indian J Endocrinol Metab 16:S178-84. 2012
  6. doi request reprint Insulin-like growth factors, nutrition and growth
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    World Rev Nutr Diet 106:52-9. 2013
  7. doi request reprint Phenotypes, investigation and treatment of primary IGF-1 deficiency
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    Endocr Dev 24:138-49. 2013
  8. ncbi request reprint Abnormal growth in noonan syndrome: the challenge of optimal therapy
    Martin O Savage
    Department of Endocrinology, Barts and the London School of Medicine and Dentistry, London, UK
    Pediatr Endocrinol Rev 6:523-8. 2009
  9. doi request reprint Work-up and management of paediatric Cushing's syndrome
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    Curr Opin Endocrinol Diabetes Obes 15:346-51. 2008
  10. doi request reprint Advances in the management of paediatric Cushing's disease
    Martin O Savage
    Department of Endocrinology, Barts and the London School of Medicine and Dentistry, London, UK
    Horm Res 69:327-33. 2008

Collaborators

Detail Information

Publications105 found, 100 shown here

  1. doi request reprint Abnormal growth in noonan syndrome: genetic and endocrine features and optimal treatment
    Raja Padidela
    Department of Endocrinology, Barts and London School of Medicine and Dentistry, London, UK
    Horm Res 70:129-36. 2008
    ..GH therapy, using doses similar to those approved for Turner syndrome (TS), induced short-term increases in height velocity over 1-3 years, and may improve final adult height with longer-term treatment...
  2. doi request reprint Phenotypic aspects of growth hormone- and IGF-I-resistant syndromes
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, London, UK
    Endocr Dev 14:143-50. 2009
    ..We discuss the current status of endocrine and molecular evaluation, focussing on the phenotypic characteristics of genetic defects in the GH-IGF-I axis...
  3. pmc Pediatric Cushing's disease: Management Issues
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    Indian J Endocrinol Metab 16:S171-5. 2012
    ..We describe a diagnostic protocol which broadly follows the model for adult patients. Treatment strategies are examined and appraised. The management of pediatric CD patients after cure is also discussed...
  4. pmc Genetic Defects in the Growth Hormone-IGF-I Axis Causing Growth Hormone Insensitivity and Impaired Linear Growth
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry London, UK
    Front Endocrinol (Lausanne) 2:95. 2011
    ..An up-dated approach to the clinical assessment of the patient with GHI focusing on investigation of the GH-IGF-I axis and relevant molecular studies contributing to the identification of causative genetic defects is also discussed...
  5. pmc The variability of responses to growth hormone therapy in children with short stature
    Martin O Savage
    Department of pediatric endocrinology William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    Indian J Endocrinol Metab 16:S178-84. 2012
    ..The relevant parameters in the evaluation of growth response are described together with the definitions of a poor response...
  6. doi request reprint Insulin-like growth factors, nutrition and growth
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    World Rev Nutr Diet 106:52-9. 2013
    ..In chronic inflammatory disorders, where nutritional deficiency may be present due to increased energy expenditure, co-existing excess cytokine production also disrupts the GH-IGF-1 axis causing a complex mixed pathogenesis...
  7. doi request reprint Phenotypes, investigation and treatment of primary IGF-1 deficiency
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    Endocr Dev 24:138-49. 2013
    ..Most therapeutic experience is in severely affected patients with the Laron syndrome phenotype, who show growth acceleration and may reach normal adult height. Further controlled studies are needed in more mildly affected subjects...
  8. ncbi request reprint Abnormal growth in noonan syndrome: the challenge of optimal therapy
    Martin O Savage
    Department of Endocrinology, Barts and the London School of Medicine and Dentistry, London, UK
    Pediatr Endocrinol Rev 6:523-8. 2009
    ..GH therapy induces short-term increases in height velocity over 1-3 years, and is likely to improve adult height...
  9. doi request reprint Work-up and management of paediatric Cushing's syndrome
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, London, UK
    Curr Opin Endocrinol Diabetes Obes 15:346-51. 2008
    ..A protocol for investigation of the child with suspected Cushing's syndrome is presented followed by principles of management...
  10. doi request reprint Advances in the management of paediatric Cushing's disease
    Martin O Savage
    Department of Endocrinology, Barts and the London School of Medicine and Dentistry, London, UK
    Horm Res 69:327-33. 2008
    ..The management of paediatric CD patients after cure also presents challenges for optimizing growth, bone health, reproduction and body composition from childhood into and during adult life...
  11. ncbi request reprint Phenotypic variability in growth hormone insensitivity
    Martin O Savage
    Department of Endocrinology, St Bartholomew s and the Royal London School of Medicine and Dentistry, London, UK
    J Pediatr Endocrinol Metab 15:1449-50. 2002
  12. doi request reprint Management of chronic systemic diseases
    Martin O Savage
    William Harvey Research InstituteJohn Vane Science CentreLondon, UK
    Horm Res 68:112. 2007
  13. ncbi request reprint Diagnosis and treatment of pediatric Cushing's disease
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, John Vane Science Centre, Charterhouse Square, London EC1M 6BQ, UK
    Pituitary 10:365-71. 2007
    ..The management of pediatric CD patients after cure also presents challenges for optimizing growth, bone health, reproduction and body composition from childhood into and during adult life...
  14. ncbi request reprint Endocrine assessment, molecular characterization and treatment of growth hormone insensitivity disorders
    Martin O Savage
    Paediatric Endocrinology Unit, William Harvey Research Institute, St Bartholomew s Hospital and the London School of Medicine and Dentistry, London, UK
    Nat Clin Pract Endocrinol Metab 2:395-407. 2006
    ....
  15. ncbi request reprint Therapeutic applications of the insulin-like growth factors
    Martin O Savage
    Research Centre in Clinical and Molecular Endocrinology, William Harvey Research Institute, Queen Mary s School of Medicine and Dentistry, Queen Mary s, University of London, London, UK
    Growth Horm IGF Res 14:301-8. 2004
    ..Improved glycaemic control has been reported in type 1 and type 2 diabetes in adults. A therapeutic trial in naïve children with GHIS is currently under way...
  16. ncbi request reprint Global inequalities in paediatric endocrine practice: statement of minimal acceptable care. Statement from the international societies for paediatric endocrinology
    Martin O Savage
    Paediatric Endocrinology Section, Department of Endocrinology Barts and the London School of Medicine and Dentistry, John Vane Science Centre Charterhouse Square, London
    Horm Res 65:111-3. 2006
  17. ncbi request reprint Transitional care of GH deficiency: when to stop GH therapy
    M O Savage
    Department of Endocrinology, Barts and the Royal London School of Medicine and Dentistry, London, UK
    Eur J Endocrinol 151:S61-5. 2004
    ..Quality of life does not appear to be decreased in adolescents with GHD who stop treatment, so achievement of satisfactory bone mass is a major determinant of the decision whether to continue therapy...
  18. ncbi request reprint IGFs and IGFBPs in GH insensitivity
    M O Savage
    Department of Endocrinology, St Bartholomew s Hospital, London EC1A 7BE, UK
    Endocr Dev 9:100-6. 2005
    ..In our experience, IGF-I is more sensitive to disturbance of GH action that IGFBP-3, however in severe GHIS cases, IGF-I is usually undetectable and measurement of IGFBP-3 is valuable as a guide to the severity of the biological defect...
  19. ncbi request reprint Growth in disorders of adrenal hyperfunction
    M O Savage
    Department of Endocrinology, St Bartholomew s and the Royal London School of Medicine and Dentistry, London, UK
    Horm Res 58:39-43. 2002
    ..After cure by TSS or pituitary irradiation, GH deficiency was frequent and persisted for many years. Treatment with hGH induced significant long-term catch-up growth leading to reasonable final height...
  20. ncbi request reprint Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?
    Martin O Savage
    Endocrinology Centre, William Harvey Research Institute, Queen Mary, University of London, London, EC1M 6BQ UK
    Eur J Endocrinol 157:S33-7. 2007
    ..Genetic analysis for single-gene defects has made enormous contributions to understanding the physiology of growth regulation. Can this type of investigation help in predicting growth responses to GH or IGF-I therapy?..
  21. ncbi request reprint Pathophysiology, assessment and management of the child with growth hormone resistance
    M O Savage
    Department of Endocrinology, William Harvey Research Institute, Barts and Royal London School of Medicine and Dentistry, London, UK
    Pediatr Endocrinol Rev 7:347-56. 2010
    ..Finally we discuss therapy with IGF-I within the limits of the USA Food and Drug Administration and European Medicines Agency labels for GH resistance...
  22. doi request reprint Diagnosis and treatment of Cushing's disease in children
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Barts and the Royal London NHS Trust, London, UK
    Endocr Dev 17:134-45. 2010
    ..The management of paediatric CD patients after cure also presents challenges for optimizing growth, bone health, reproduction and body composition from childhood into and during adult life...
  23. doi request reprint The continuum of growth hormone-IGF-I axis defects causing short stature: diagnostic and therapeutic challenges
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, Barts and the Royal London School of Medicine and Dentistry, London, UK
    Clin Endocrinol (Oxf) 72:721-8. 2010
    ..We consider appropriate therapy for patients with abnormal auxology and subnormal adult height prognosis, highlighting new data to clarify therapeutic choices leading to optimal clinical outcome...
  24. doi request reprint Growth hormone treatment in children on chronic glucorticoid therapy
    Martin O Savage
    Department of Endocrinology, William Harvey Research Institute, Barts and the Royal London School of Medicine and Dentistry, Charterhouse Square, London, UK
    Endocr Dev 20:194-201. 2011
    ..Collaboration between paediatric endocrinologists and other subspecialists will improve the opportunity for successful GH therapy. Treatment should be initiated before or during early puberty...
  25. ncbi request reprint Comparison of continuation or cessation of growth hormone (GH) therapy on body composition and metabolic status in adolescents with severe GH deficiency at completion of linear growth
    P V Carroll
    Department of Endocrinology, St Bartholomew s Hospital, London EC1A 7BE, United Kingdom
    J Clin Endocrinol Metab 89:3890-5. 2004
    ....
  26. pmc Acid-labile subunit deficiency and growth failure: description of two novel cases
    A David
    Centre for Endocrinology, Queen Mary University of London, Barts and the London School of Medicine and Dentistry, London, UK
    Horm Res Paediatr 73:328-34. 2010
    ..Whether severe pubertal delay is also part of the phenotype remains controversial due to the small number of cases reported. We report 2 children with a history of growth failure due to novel IGFALS mutations...
  27. ncbi request reprint Cushing's disease in childhood: presentation, investigation, treatment and long-term outcome
    M O Savage
    Department of Endocrinology, St Bartholomew s and the Royal London School of Medicine and Dentistry, London, UK
    Horm Res 55:24-30. 2001
    ..93 +/- 1.13, i.e. less (p = 0.005) than the difference between height SDS and target height SDS at presentation, i.e. 1.72 +/- 1.26, indicating long-term catch-up growth...
  28. doi request reprint Diagnosis, management and therapeutic outcome in prepubertal Cushing's disease
    R P Dias
    Department of Endocrinology, Barts and the Royal London School of Medicine and Dentistry, London EC1A 7BE, UK
    Eur J Endocrinol 162:603-9. 2010
    ..Cushing's disease (CD) in prepubertal children is very rare and presents important diagnostic and therapeutic challenges. We report experience of the management of this subpopulation of CD patients...
  29. ncbi request reprint Abnormal puberty in paediatric Cushing's disease: relationship with adrenal androgen, sex hormone binding globulin and gonadotrophin concentrations
    C C Dupuis
    Department of Endocrinology, Barts and the Royal London School of Medicine and Dentistry, London, UK
    Clin Endocrinol (Oxf) 66:838-43. 2007
    ..Paediatric Cushing's disease is frequently associated with abnormal puberty. We addressed the hypothesis that prepubertal patients show excessive virilization and pubertal patients show suppression of LH and FSH secretion...
  30. pmc Identification and characterisation of a novel GHR defect disrupting the polypyrimidine tract and resulting in GH insensitivity
    A David
    William Harvey Research Institute, Centre for Endocrinology, Queen Mary University of London, Barts and The London, London, UK
    Eur J Endocrinol 162:37-42. 2010
    ..All but one known GHR mutation are in the coding sequence or the exon/intron boundaries. We identified and characterised the first intronic defect occurring in the polypyrimidine tract of the GHR in a patient with severe GHI...
  31. ncbi request reprint Investigation, management and therapeutic outcome in 12 cases of childhood and adolescent Cushing's syndrome
    A Weber
    Division of Paediatric Endocrinology, St Bartholomew s Hospital, London, UK
    Clin Endocrinol (Oxf) 43:19-28. 1995
    ..Cushing's syndrome in childhood and adolescence is rare. We analysed the clinical presentation, investigation, management and therapeutic outcome in 12 paediatric patients with Cushing's syndrome...
  32. ncbi request reprint An intronic growth hormone receptor mutation causing activation of a pseudoexon is associated with a broad spectrum of growth hormone insensitivity phenotypes
    A David
    Centre for Endocrinology, William Harvey Research Institute, University of London, London EC1M 6BQ, United Kingdom
    J Clin Endocrinol Metab 92:655-9. 2007
    ..We previously described four mildly affected GHI patients with an intronic mutation in the GHR gene (A(-1)-->G(-1) substitution in intron 6), resulting in the activation of a pseudoexon (6Psi) and inclusion of 36 amino acids...
  33. ncbi request reprint Final adult height and body mass index after cure of paediatric Cushing's disease
    J H Davies
    Department of Endocrinology, Barts and the Royal London School of Medicine and Dentistry, London EC1A 7BE, UK
    Clin Endocrinol (Oxf) 62:466-72. 2005
    ..Linear growth data after cure of paediatric Cushing's disease (CD) have been reported infrequently. We evaluated final adult height (FH) and body mass index (BMI) in a cohort of paediatric patients treated successfully for CD...
  34. ncbi request reprint Long-term anterior pituitary function in patients with paediatric Cushing's disease treated with pituitary radiotherapy
    L F Chan
    Departments of Endocrinology, St Bartholomew s and the Royal London School of Medicine and Dentistry, London, UK
    Eur J Endocrinol 156:477-82. 2007
    ..Although the short-term effects of pituitary RT are well documented, there are less data on possible long-term sequelae. We report the long-term anterior pituitary function in a cohort of paediatric CD patients treated with pituitary RT...
  35. ncbi request reprint Bone mineral density at diagnosis and following successful treatment of pediatric Cushing's disease
    S Scommegna
    Department of Endocrinology, St Bartholomew s Hospital, Birmingham, UK
    J Endocrinol Invest 28:231-5. 2005
    ..03 (-0.53-0.38). These findings show variability of BMD at diagnosis and near normal BMD after cure of pediatric CD, suggesting that with appropriate replacement of pituitary hormone deficiency normal peak bone mass is achievable...
  36. ncbi request reprint The effect of cessation of growth hormone (GH) therapy on bone mineral accretion in GH-deficient adolescents at the completion of linear growth
    W M Drake
    Department of Endocrinology, St Bartholomew s Hospital, London EC1A 7BE, United Kingdom
    J Clin Endocrinol Metab 88:1658-63. 2003
    ..This may predispose to clinically significant osteopenia in later adult life...
  37. ncbi request reprint Linear growth and body mass index in pediatric patients with Cushing's disease or simple obesity
    J E Greening
    Department of Endocrinology, Barts and the London School of Medicine and Dentistry, London, UK
    J Endocrinol Invest 29:885-7. 2006
    ..The exclusion of Cushing's disease (CD) requires complex and potentially invasive investigations...
  38. ncbi request reprint Growth hormone insensitivity: pathophysiology, diagnosis, clinical variation and future perspectives
    M O Savage
    Department of Endocrinology, St Bartholomew s Hospital, and the Royal London School of Medicine and Dentistry, UK
    Horm Res 55:32-5. 2001
    ..GH sensitivity, measured by IGF-I and IGFBP-3 responses in the IGF-I generation test, may reveal abnormalities in ISS, although it is likely that the dose of recombinant human GH and frequency of sampling in the test need to be modified...
  39. ncbi request reprint Growth abnormalities associated with adrenal disorders and their management
    M O Savage
    Department of Endocrinology, St Bartholomew s and Royal London School of Medicine and Dentistry, London EC1A 7BE, UK
    Horm Res 56:19-23. 2001
    ..Disturbance of linear growth is an important feature of many patients with adrenal disorders in childhood. Assessment of its pathogenesis and careful management are necessary to ensure optimal final adult height...
  40. doi request reprint Use of intravenous etomidate to control acute psychosis induced by the hypercortisolaemia in severe paediatric Cushing's disease
    L F Chan
    Paediatric Endocrinology, Barts and the London School of Medicine and Dentistry, London, UK
    Horm Res Paediatr 75:441-6. 2011
    ..Psychosis secondary to paediatric Cushing's disease (CD) is extremely rare and presents a significant management challenge...
  41. ncbi request reprint Treatment with GHRH(1-29)NH2 in children with idiopathic short stature induces a sustained increase in growth velocity
    J M Kirk
    Department of Endocrinology, St Bartholomew s Hospital, London, UK
    Clin Endocrinol (Oxf) 41:487-93. 1994
    ..We, therefore, studied the clinical response of children with idiopathic short stature to treatment with GHRH(1-29)NH2 (GHRHa) for a period of 12 months...
  42. ncbi request reprint Normal final height and apparent cure after pituitary irradiation for Cushing's disease in childhood: long-term follow-up of anterior pituitary function
    L B Johnston
    Department of Endocrinology, St Bartholomew s Hospital, London, UK
    Clin Endocrinol (Oxf) 48:663-7. 1998
    ..Collaboration between the paediatric and adult departments and an experienced radiotherapist contributed to the successful outcome of these two patients...
  43. doi request reprint Comparisons in the epidemiology, diagnostic features and cure rate by transsphenoidal surgery between paediatric and adult-onset Cushing's disease
    H L Storr
    Department of Paediatric Endocrinology, Barts and the London School of Medicine and Dentistry, London EC1A 7BE, UK
    Eur J Endocrinol 164:667-74. 2011
    ..There are few published comparisons between paediatric and adult-onset Cushing's disease (CD). We compare the epidemiology, diagnostic features and cure rate by transsphenoidal surgery (TSS) in these groups...
  44. ncbi request reprint Factors influencing skeletal maturation at diagnosis of paediatric Cushing's disease
    C J Peters
    Department of Paediatric, The Royal London Hospital, London, UK
    Horm Res 68:231-5. 2007
    ..We assessed factors contributing to skeletal maturation in patients with paediatric CD...
  45. doi request reprint Pediatric endocrine screening for von Hippel-Lindau disease: benefits and the challenge of compliance
    R Prasad
    Paediatric Endocrine Unit, St Bartholomew s and Royal London Hospitals, London, UK
    J Endocrinol Invest 34:296-9. 2011
    ..A formal screening programme for this at-risk population of pediatric patients, despite being intensive, can identify VHL lesions during a pre-morbid phase and may thus have a beneficial impact on prognosis in this serious disorder...
  46. ncbi request reprint Cosegregation of a novel homozygous CYP11B1 mutation with the phenotype of non-classical congenital adrenal hyperplasia in a consanguineous family
    C J Peters
    Department of Endocrinology, Royal London Hospital, London, UK
    Horm Res 67:189-93. 2007
    ..These findings suggest that this homozygous mutation affects 11beta-hydroxylase function, resulting in the clinical features of non-classical adrenal hyperplasia in this family...
  47. ncbi request reprint Clinical and endocrine characteristics in atypical and classical growth hormone insensitivity syndrome
    C P Burren
    Paediatric Section, Dept. of Endocrinology, St. Bartholomew's Hospital, London EC1A 7BE, UK
    Horm Res 55:125-30. 2001
    ..GH insensitivity may be present in children with short stature and an otherwise normal appearance...
  48. ncbi request reprint Successful treatment of childhood-onset Cushing's disease is associated with persistent reduction in growth hormone secretion
    P V Carroll
    Department of Endocrinology, St Bartholomew s and the Royal London School of Medicine and Dentistry, London, UK
    Clin Endocrinol (Oxf) 60:169-74. 2004
    ..Whether recovery of spontaneous GH secretion occurs following treatment of childhood CD has yet to be established...
  49. ncbi request reprint Response to growth hormone-releasing hormone as evidence of hypothalamic defect in optic nerve hypoplasia
    A A Leaf
    Department of Child Health, St Bartholomew s Hospital, London, UK
    Acta Paediatr Scand 78:436-9. 1989
    ..One child has shown an excellent response to treatment with subcutaneous GHRH, which is physiologically the most appropriate treatment for this condition...
  50. ncbi request reprint Relative contributions of inferior petrosal sinus sampling and pituitary imaging in the investigation of children and adolescents with ACTH-dependent Cushing's syndrome
    A Lienhardt
    Department of Endocrinology, St. Bartholomew's and Royal London School of Medicine and Dentistry, London, United Kingdom EC1 7BE
    J Clin Endocrinol Metab 86:5711-4. 2001
    ..In experienced hands, however, IPSS was feasible in this age group, safe, and strongly predictive of the site of the adenoma, leading to a high rate of successful surgical outcome...
  51. ncbi request reprint Is there a medical need to explore the clinical use of insulin-like growth factor I?
    M O Savage
    St Bartholomew s and the Royal London School of Medicine and Dentistry, UK
    Growth Horm IGF Res 11:S65-9. 2001
    ..It will probably be decided during the next decade whether use of IGF-I or the IGF-I-IGFBP-3 complex becomes firmly established as an accepted endocrine therapy...
  52. ncbi request reprint Growth hormone deficiency following radiotherapy for orbital and parameningeal sarcomas
    A G Goddard
    Department of Paediatric Oncology, St Bartholomew s Hospital, London, UK
    Pediatr Hematol Oncol 16:23-33. 1999
    ..7 years. Treatment with hGH resulted in a median increase in height SDS of 0.9. Careful surveillance with timely introduction of GH replacement is required for treatment of GHD following treatment of orbital and parameningeal sarcomas...
  53. ncbi request reprint Clinical and endocrine features and long-term outcome of Graves' disease in early childhood
    A T Bossowski
    Department of Paediatric Endocrinology Barts and London School of Medicine and Dentistry, London, UK
    J Endocrinol Invest 30:388-92. 2007
    ..2) or radioiodine (no.=2). In conclusion, disturbance of growth, behavioral difficulties and infrequent spontaneous remission are key features of Graves' disease in early childhood...
  54. ncbi request reprint Standard and low-dose IGF-I generation tests and spontaneous growth hormone secretion in children with idiopathic short stature
    J C Blair
    Paediatric Endocrinology Section, Department of Endocrinology, St Bartholomew s and the Royal London School of Medicine and Dentistry, London, UK
    Clin Endocrinol (Oxf) 60:163-8; discussion 161-2. 2004
    ..The aim of this study was to investigate the GH-IGF-I axis in ISS by performing standard and novel low-dose IGFGTs together with determination of spontaneous GH secretion...
  55. ncbi request reprint Bilateral testicular tumours in congenital adrenal hyperplasia: a continuing diagnostic and therapeutic dilemma
    D Cunnah
    Department of Endocrinology, St Bartholomew s Hospital, London, UK
    Clin Endocrinol (Oxf) 30:141-7. 1989
    ..To our knowledge, this is the first time in this clinical setting that fertility has been achieved. This case highlights the need for both a functional and histological assessment of such 'tumours' in CAH prior to orchidectomy...
  56. ncbi request reprint Benefits of screening in von Hippel-Lindau disease--comparison of morbidity associated with initial tumours in affected parents and children
    M Priesemann
    Department of Endocrinology, Barts and The London NHS Trust, London, UK
    Horm Res 66:1-5. 2006
    ..These observations strongly support the recommendation to undertake screening of the children of VHL patients...
  57. ncbi request reprint The discriminatory value of the low-dose dexamethasone suppression test in the investigation of paediatric Cushing's syndrome
    R Dias
    Department of Endocrinology, Barts and the London School of Medicine and Dentistry, London, UK
    Horm Res 65:159-62. 2006
    ..Low- and high-dose dexamethasone suppression tests (LDDST, HDDST) are used in the investigation of Cushing's syndrome (CS). In adults with Cushing's disease (CD), cortisol suppression during LDDST predicts suppression during the HDDST...
  58. ncbi request reprint Excellent growth response to growth hormone therapy in a child with PTPN11-negative Noonan syndrome and features of growth hormone resistance
    S Walton-Betancourth
    Department of Endocrinology, St Bartholomew s and The Royal London Hospitals, London, UK
    J Endocrinol Invest 30:439-41. 2007
    ..This case shows that the potential value of GH therapy must be evaluated in each patient individually and that an excellent response may occur in a child with a PTPN11-negative genotype...
  59. ncbi request reprint Influence of growth hormone on accretion of bone mass
    J P Monson
    Department of Endocrinology, St Bartholomew s Hospital, London, UK
    Horm Res 58:52-6. 2002
    ..To date, this has been difficult to assess in adult GHD of childhood-onset because the relative contributions of low peak bone mass and increased loss of bone in later life could not be distinguished...
  60. ncbi request reprint Treatment of radiation-induced growth hormone deficiency with growth hormone-releasing hormone
    A L Ogilvy-Stuart
    Department of Endocrinology, Christie Hospital NHS Trust, Manchester, UK
    Clin Endocrinol (Oxf) 46:571-8. 1997
    ..In children with hypothalamic causes for GH deficiency there are theoretical reasons why a GHRH analogue might be better than conventional GH therapy in promoting growth...
  61. ncbi request reprint Two brothers with non-classical 21-hydroxylase deficiency: to treat or not to treat?
    F Oberender
    Department of Paediatric Endocrinology and Clinical Biochemistry, St Bartholomew s and the Royal London School of Medicine and Dentistry, London, UK
    Horm Res 62:241-4. 2004
    ..5 years. Because of actual or incipient virilization, both patients were treated with glucocorticoid replacement 8-12 mg/m(2)/day. This decision is discussed in the context of published guidelines for the management of 21OHD...
  62. ncbi request reprint Clinical features, diagnosis, treatment and molecular studies in paediatric Cushing's syndrome due to primary nodular adrenocortical hyperplasia
    H L Storr
    Department of Endocrinology, St Bartholomew s and the Royal London School of Medicine and Dentistry, London, UK
    Clin Endocrinol (Oxf) 61:553-9. 2004
    ..Primary nodular adrenocortical hyperplasia (PNAH) is a well recognized, but infrequently studied cause of paediatric Cushing's syndrome (CS)...
  63. pmc Should recombinant human growth hormone therapy be used in short small for gestational age children?
    L B Johnston
    Paediatric Endocrine Section, Department of Endocrinology, William Harvey Research Institute, Barts and the London Queen Mary School of Medicine, London, UK
    Arch Dis Child 89:740-4. 2004
    ..This article examines the role of GH therapy in short SGA children with particular reference to selection of patients, effectiveness, safety, and its potential metabolic implications...
  64. ncbi request reprint Efficient short-term control of hypercortisolaemia by low-dose etomidate in severe paediatric Cushing's disease
    J E Greening
    Department of Paediatric, St Bartholomew s and The Royal London Hospitals, London, UK
    Horm Res 64:140-3. 2005
    ..Control of cortisol with metyrapone and ketoconazole was ineffective, and due to his deteriorating condition, the decision was taken to proceed to bilateral adrenalectomy...
  65. ncbi request reprint Growth hormone therapy in Noonan's syndrome: non-cardiomyopathic congenital heart disease does not adversely affect growth improvement
    D C Brown
    Child Life and Health, University of Edinburgh, London, UK
    J Pediatr Endocrinol Metab 15:851-2. 2002
    ..None of the 23 children developed hypertrophic cardiomyopathy during GH treatment. Children with any cardiac abnormality at the start of treatment did not show a reduced growth trend when compared with patients with normal hearts...
  66. pmc Testicular function following the treatment of Hodgkin's disease in childhood
    E A Shafford
    Department of Paediatric Oncology, St Bartholomew s Hospital, West Smithfield, London, UK
    Br J Cancer 68:1199-204. 1993
    ..Appropriate counselling of these patients with regard to their reproductive capabilities is essential...
  67. ncbi request reprint Embryology of the adrenal glands and its relevance to diagnostic imaging
    T D Barwick
    Department of Diagnostic Radiology, St Bartholomew s Hospital, London, UK
    Clin Radiol 60:953-9. 2005
    ..This review article illustrates the embryology of the adrenal with particular emphasis on the relevance of embryology to pathology...
  68. ncbi request reprint Clinical and endocrine responses to pituitary radiotherapy in pediatric Cushing's disease: an effective second-line treatment
    Helen L Storr
    Department of Endocrinology, St Bartholomew s and the Royal London School of Medicine and Dentistry, London EC1A 7BE, United Kingdom
    J Clin Endocrinol Metab 88:34-7. 2003
    ..GH deficiency occurred in 86% patients. Long-term follow-up suggests some recovery of GH secretion and preservation of other anterior pituitary function...
  69. ncbi request reprint Spontaneous growth hormone secretory characteristics in children with partial growth hormone insensitivity
    Ragnar Bjarnason
    Department of Endocrinology, St Bartholomew s and the Royal London School of Medicine and Dentistry, UK
    Clin Endocrinol (Oxf) 57:357-61. 2002
    ..Their molecular defect consists of inclusion of a mutant intronic pseudoexon in the region of the GH receptor involved in homodimerization...
  70. ncbi request reprint Interleukin-1beta (IL-1beta) and IL-6 modulate insulin-like growth factor-binding protein (IGFBP) secretion in colon cancer epithelial (Caco-2) cells
    M E Street
    Department of Endocrinology, St Bartholomew s Hospital, London, UK
    J Endocrinol 179:405-15. 2003
    ..These findings suggest that interleukins modulate the IGF-IGFBP system in Caco-2 cells in vitro...
  71. ncbi request reprint Investigating familial endocrine neoplasia syndromes in children
    L B Johnston
    St Bartholomew s Hospital, London, UK
    Horm Res 55:31-5. 2001
    ..This paper provides an overview of the major features of these syndromes and suggests protocols for regular screening of children known to be at risk of developing these disorders...
  72. ncbi request reprint Gene association studies in small for gestational age infants
    Linda B Johnston
    Paediatric Endocrinology Section, St Bartholomew s Hospital and the London Medical and Dental School, Queen Mary University of London, UK
    J Pediatr Endocrinol Metab 15:1459. 2002
  73. doi request reprint Familial isolated primary pigmented nodular adrenocortical disease associated with a novel low penetrance PRKAR1A gene splice site mutation
    Helen L Storr
    Queen Mary University of London, Barts and London School of Medicine and Dentistry, Centre for Endocrinology, William Harvey Research Institute, London, UK
    Horm Res Paediatr 73:115-9. 2010
    ..Most mutations result in a functionally null-allele and exhibit high penetrance. We genotyped members of an extended family for a novel PRKAR1A mutation and undertook detailed phenotyping for CNC in the affected individuals...
  74. ncbi request reprint NESTEGG: aims and strategies. Northern European Study of Genes in Growth
    Linda B Johnston
    Paediatric Endocrinology Section, St Bartholomew s Hospital and the London Medical and Dental School, Queen Mary University of London, UK
    J Pediatr Endocrinol Metab 15:1441-2. 2002
  75. ncbi request reprint Insulin-like growth factor (IGF)-I gene deletion
    Cecilia Camacho-Hubner
    Paediatric Endocrinology Section, Department of Endocrinology, St Bartholomew s Hospital, London, UK
    Rev Endocr Metab Disord 3:357-61. 2002
  76. ncbi request reprint Skeletal consequences of discontinuation of growth hormone at final height
    William M Drake
    Department of Endocrinology, St Bartholomew s Hospital, London, UK
    J Pediatr Endocrinol Metab 15:1351-4. 2002
    ..This paper discusses the role of GH in the attainment of peak bone mass and some of the accumulating evidence that cessation of GH at final height may compromise bone mineral accretion in GH-deficient adolescent patients...
  77. ncbi request reprint Delayed puberty associated with inflammatory bowel disease
    Anne B Ballinger
    Digestive Diseases Research Centre, Department of Adult and Paediatric Gastroenterology, Barts and the London Queen Mary School of Medicine and Dentistry, London, UK
    Pediatr Res 53:205-10. 2003
    ..Observations in boys with delayed puberty and controlled studies in experimental models of intestinal inflammation suggest that testosterone therapy can accelerate puberty...
  78. ncbi request reprint Factors influencing cure by transsphenoidal selective adenomectomy in paediatric Cushing's disease
    Helen L Storr
    Department of Endocrinology, St Bartholomew s Hospital, London, UK
    Eur J Endocrinol 152:825-33. 2005
    ..In our paediatric CD patient group we have assessed the possible factors which may influence cure by TSS...
  79. ncbi request reprint Pharmacokinetic studies of recombinant human insulin-like growth factor I (rhIGF-I)/rhIGF-binding protein-3 complex administered to patients with growth hormone insensitivity syndrome
    Cecilia Camacho-Hubner
    Department of Endocrinology, William Harvey Research Institute, John Vane Science Building, First Floor, Charterhouse Square, London EC1M 6BQ, United Kingdom
    J Clin Endocrinol Metab 91:1246-53. 2006
    ..We have investigated a newly developed drug, rhIGF-I/rhIGFBP-3, a 1:1 molar complex of rhIGF-I and rhIGFBP-3...
  80. doi request reprint Network of European studies of genes in growth (NESTEGG)
    Linda B Johnston
    Barts and the London Queen Mary School of Medicine, London, UK
    Horm Res 71:48-54. 2009
    ..This article describes the study methodology and reviews the association of the exon 3-deleted genotype of the GH receptor with GH responsiveness in GH-treated children born SGA...
  81. ncbi request reprint Diagnostic and therapeutic advances in growth hormone insensitivity
    Alessia David
    Molecular Endocrinology Centre, William Harvey Research Institute, St Bartholomew s Hospital, London, UK
    Endocrinol Metab Clin North Am 34:581-95, viii. 2005
    ....
  82. ncbi request reprint Association between insulin-like growth factor I (IGF-I) polymorphisms, circulating IGF-I, and pre- and postnatal growth in two European small for gestational age populations
    Linda B Johnston
    Department of Endocrinology, Barts and the London Queen Mary School of Medicine, University of London, London, United Kingdom
    J Clin Endocrinol Metab 88:4805-10. 2003
    ..These studies validate the association of the IGF-I gene with birth size and refine the region of association in Swedish short SGA subjects...
  83. ncbi request reprint Pediatric Cushing's syndrome: clinical features, diagnosis, and treatment
    Li F Chan
    Department of Endocrinology, William Harvey Research Institute, St Bartholomew s and the Royal London School of Medicine and Dentistry
    Arq Bras Endocrinol Metabol 51:1261-71. 2007
    ..This article will aim to provide an overall view of pediatric CS highlighting some of the differences between adult and pediatric CS...
  84. ncbi request reprint Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene
    K A Woods
    Department of Endocrinology, St Bartholomew s Hospital, London, United Kingdom
    N Engl J Med 335:1363-7. 1996
  85. ncbi request reprint Paediatric Cushing's syndrome: epidemiology, investigation and therapeutic advances
    Helen L Storr
    Department of Endocrinology, William Harvey Research Institute, Barts and The London, Queen Mary s School of Medicine and Dentistry, John Vane Science Centre, Charterhouse Square, London, EC1M 6BQ, UK
    Trends Endocrinol Metab 18:167-74. 2007
    ..The management of paediatric CS patients after cure also presents challenges for optimizing growth, bone health, reproduction and body composition from childhood into and during adult life...
  86. ncbi request reprint Prepubertal Cushing's disease is more common in males, but there is no increase in severity at diagnosis
    Helen L Storr
    Department of Endocrinology, St Bartholomew s and the Royal London School of Medicine and Dentistry, West Smithfield, London, United Kingdom EC1A 7BE
    J Clin Endocrinol Metab 89:3818-20. 2004
    ..In conclusion, female preponderance of CD in adult patients was not present in childhood. In patients 18 yr of age or younger, there was no difference in the severity of hypercortisolemia or ACTH at diagnosis between males and females...
  87. ncbi request reprint Anti-inflammatory and growth-stimulating effects precede nutritional restitution during enteral feeding in Crohn disease
    Kaushik Bannerjee
    Departments of Adult and Paediatric Gastroenterology, Barts and The London, Queen Mary s School of Medicine and Dentistry, University of London, London, United Kingdom
    J Pediatr Gastroenterol Nutr 38:270-5. 2004
    ..This study was undertaken to test the hypothesis that changes in growth-related proteins are related to decreased inflammation, rather than improvement in nutritional status...
  88. ncbi request reprint TPIT mutations are associated with early-onset, but not late-onset isolated ACTH deficiency
    L A Metherell
    Department of Endocrinology, Barts and The London, Queen Mary University of London, London, UK
    Eur J Endocrinol 151:463-5. 2004
    ..Recently, mutations in the TPIT gene, a T-box factor selectively expressed in developing corticotroph cells, have been found in cases of early-onset IAD...
  89. ncbi request reprint Pseudo-precocious puberty caused by a juvenile granulosa cell tumour secreting androstenedione, inhibin and insulin-like growth factor-I
    L F Chan
    Department of Paediatric Endocrinology, St Bartholomew s and the Royal London School of Medicine and Dentistry, London, UK
    J Pediatr Endocrinol Metab 17:679-84. 2004
    ..Histological changes were consistent with JGCT. Immunohistochemical studies revealed positive reactivity to MIC-2, inhibin, melan A, IGF-I and IGFBP-2...
  90. pmc Pseudoexon activation as a novel mechanism for disease resulting in atypical growth-hormone insensitivity
    L A Metherell
    Department of Chemical Endocrinology, St. Bartholomew's Hospital, London EC1A 7BE, United Kingdom
    Am J Hum Genet 69:641-6. 2001
    ..The presence of the pseudoexon results in inclusion of an additional 36-amino acid sequence in a region of the receptor known to be involved in homo-dimerization, which is essential for signal transduction...
  91. doi request reprint Evidence for a continuum of genetic, phenotypic, and biochemical abnormalities in children with growth hormone insensitivity
    Alessia David
    Department of Endocrinology, Barts and the London School of Medicine and Dentistry, London, United Kingdom
    Endocr Rev 32:472-97. 2011
    ....
  92. ncbi request reprint Novel growth hormone receptor mutation in a Chinese patient with Laron syndrome
    Hamilton N T Hui
    Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Hong Kong, China
    J Pediatr Endocrinol Metab 18:209-13. 2005
    ..9 years with height -4.9 SDS, basal GH 344 mIU/ml, IGF-I <12 ng/ml, IGFBP-3 <0.2 mg/ml, and undetectable GHBP. A novel mutation of the GHR, not previously described, was identified at the donor splice site of intron 6...
  93. ncbi request reprint Final height in patients with idiopathic short stature and high growth hormone responses to stimulation tests
    Carlos Eduardo Martinelli
    Department of Paediatrics, School of Medicine of Ribeirao Preto, University of Sao Paulo, Ribeirao Preto, Brazil
    Horm Res 67:224-30. 2007
    ..0 standard deviation score (SDS) if untreated. FH of subjects with high stimulated GH levels has not been studied in detail...
  94. ncbi request reprint Deterioration of visual acuity associated with growth hormone therapy in a child with extreme short stature and high hypermetropia
    Wendy F Paterson
    Department of Child Health, Royal Hospital for Sick Children, Glasgow, UK
    Horm Res 67:67-72. 2007
    ..In 1998, an association between exogenous human GH and retinal pathology in non-diabetic subjects was described...
  95. pmc Intestinal inflammation-induced growth retardation acts through IL-6 in rats and depends on the -174 IL-6 G/C polymorphism in children
    Andrew Sawczenko
    Research Centre for Gastroenterology, Institute of Cell and Molecular Science, University of London, London E1 2AD, United Kingdom
    Proc Natl Acad Sci U S A 102:13260-5. 2005
    ..028). However, their risk of developing Crohn's disease was similar to other genotypes when compared with 351 healthy controls (P = 0.7). Thus, the IL-6 -174 genotype mediates growth failure in children with Crohn's disease...
  96. ncbi request reprint Relationships between serum IGF-1, IGFBP-2, interleukin-1beta and interleukin-6 in inflammatory bowel disease
    Maria E Street
    Department of Paediatrics, University of Parma, Italy
    Horm Res 61:159-64. 2004
    ..To study the relationships between serum IGF-1, IGFBP-3 and IGFBP-2 and interleukin (IL)-1beta and IL-6 in inflammatory bowel disease (IBD)...
  97. ncbi request reprint The 88th Annual Meeting of the Endocrine Society, June 24-27, 2006, Boston MA, USA: selected pediatric presentations
    Mitchell E Geffner
    The Saban Research Institute of Childrens Hospital, Los Angeles, CA, USA
    Pediatr Endocrinol Rev 5:789-95. 2008
  98. ncbi request reprint The GH-IGF-I axis in children with idiopathic short stature
    Joanne C Blair
    Section of Paediatric Endocrinology, Dept of Endocrinology, St Bartholomew s and the Royal London School of Medicine and Dentistry, London, UK EC1A 7BE
    Trends Endocrinol Metab 13:325-30. 2002
    ..Because most diagnostic methods remain crude, however, their modification might be necessary to identify more subtle and yet functionally significant abnormalities of this endocrine axis...
  99. pmc The diagnosis of Cushing's syndrome: an Endocrine Society Clinical Practice Guideline
    Lynnette K Nieman
    Program on Reproductive and Adult Endocrinology, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
    J Clin Endocrinol Metab 93:1526-40. 2008
    ..The objective of the study was to develop clinical practice guidelines for the diagnosis of Cushing's syndrome...
  100. doi request reprint The small for gestational age child
    Linda B Johnston
    Best Pract Res Clin Endocrinol Metab 22:vii. 2008
  101. ncbi request reprint Growth hormone insensitivity and severe short stature in siblings: a novel mutation at the exon 13-intron 13 junction of the STAT5b gene
    Vivian Hwa
    Department of Pediatrics, Oregon Health and Sciences University, Portland, OR 97239 3098, USA
    Horm Res 68:218-24. 2007
    ..We investigated 2 sisters from a consanguineous family from Kuwait, with clinical and biochemical features of GHI, in whom no molecular defects in the GHR were identified...