J M Wit

Summary

Affiliation: Leiden University Medical Center
Country: The Netherlands

Publications

  1. ncbi Catch-up growth: definition, mechanisms, and models
    Jan Maarten Wit
    Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
    J Pediatr Endocrinol Metab 15:1229-41. 2002
  2. pmc Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
    Yu Sun
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Nat Genet 44:1375-81. 2012
  3. doi Personalized approach to growth hormone treatment: clinical use of growth prediction models
    J M Wit
    Department of Pediatrics, Leiden University Medical Center, NL 2300 Leiden, The Netherlands
    Horm Res Paediatr 79:257-70. 2013
  4. doi Role of insulin-like growth factors in growth, development and feeding
    Jan M Wit
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    World Rev Nutr Diet 106:60-5. 2013
  5. doi Spectrum of insulin-like growth factor deficiency
    Jan M Wit
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Endocr Dev 23:30-41. 2012
  6. doi Aromatase inhibitors in pediatrics
    Jan M Wit
    Department of Pediatrics, J6S, Leiden University Medical Center, Albinusdreef 2, 2333ZA, P O Box 9600, 2300RC Leiden, The Netherlands
    Nat Rev Endocrinol 8:135-47. 2012
  7. ncbi Diagnosis and management of disorders of IGF-I synthesis and action
    J M Wit
    Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Pediatr Endocrinol Rev 9:538-40. 2011
  8. pmc The effect of family-based multidisciplinary cognitive behavioral treatment in children with obesity: study protocol for a randomized controlled trial
    Rimke C Vos
    Department of Pediatrics, Juliana Children s Hospital HagaHospital, The Hague, The Netherlands
    Trials 12:110. 2011
  9. pmc Referral patterns of children with poor growth in primary health care
    Floor K Grote
    Dept of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Public Health 7:77. 2007
  10. pmc Screening rules for growth to detect celiac disease: a case-control simulation study
    Paula van Dommelen
    Dept of Statistics, TNO Quality of Life, Leiden, The Netherlands
    BMC Pediatr 8:35. 2008

Detail Information

Publications126 found, 100 shown here

  1. ncbi Catch-up growth: definition, mechanisms, and models
    Jan Maarten Wit
    Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
    J Pediatr Endocrinol Metab 15:1229-41. 2002
    ....
  2. pmc Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement
    Yu Sun
    Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Nat Genet 44:1375-81. 2012
    ..Collectively, our observations delineate a new X-linked disorder in which loss-of-function mutations in IGSF1 cause central hypothyroidism, likely secondary to an associated impairment in pituitary TRH signaling...
  3. doi Personalized approach to growth hormone treatment: clinical use of growth prediction models
    J M Wit
    Department of Pediatrics, Leiden University Medical Center, NL 2300 Leiden, The Netherlands
    Horm Res Paediatr 79:257-70. 2013
    ..There is a need for user-friendly software programs to make prediction models easily available in the clinic...
  4. doi Role of insulin-like growth factors in growth, development and feeding
    Jan M Wit
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    World Rev Nutr Diet 106:60-5. 2013
    ..Feeding disturbances in infants with IGF1 and IGF1R mutations suggest a role of IGF-1 signaling in regulatory brain centers...
  5. doi Spectrum of insulin-like growth factor deficiency
    Jan M Wit
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Endocr Dev 23:30-41. 2012
    ..IGFD can also have a digenic or oligogenic origin. The diagnostic yield of genetic testing in children with a height <-2.5 SDS and a serum IGF-1 <-2 appears sufficient to perform genetic tests for known candidate genes...
  6. doi Aromatase inhibitors in pediatrics
    Jan M Wit
    Department of Pediatrics, J6S, Leiden University Medical Center, Albinusdreef 2, 2333ZA, P O Box 9600, 2300RC Leiden, The Netherlands
    Nat Rev Endocrinol 8:135-47. 2012
    ....
  7. ncbi Diagnosis and management of disorders of IGF-I synthesis and action
    J M Wit
    Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Pediatr Endocrinol Rev 9:538-40. 2011
    ..Children with GHR defects, and presumably STAT5B and homozygous IGF1 defects, can be treated with rhlGF-I. Children with IGF1R defects and mild or heterozygous IGF1 defects respond to GH treatment...
  8. pmc The effect of family-based multidisciplinary cognitive behavioral treatment in children with obesity: study protocol for a randomized controlled trial
    Rimke C Vos
    Department of Pediatrics, Juliana Children s Hospital HagaHospital, The Hague, The Netherlands
    Trials 12:110. 2011
    ..The intervention aims to establish long-term weight reduction and stabilization, reduction of obesity-related health consequences and improvement of self-image by change of lifestyle and learning cognitive behavioral techniques...
  9. pmc Referral patterns of children with poor growth in primary health care
    Floor K Grote
    Dept of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Public Health 7:77. 2007
    ..This resulted in guidelines for referral. In this study we evaluate the referral pattern of short stature in primary health care using these guidelines, comparing it with cut-off values mentioned by the WHO...
  10. pmc Screening rules for growth to detect celiac disease: a case-control simulation study
    Paula van Dommelen
    Dept of Statistics, TNO Quality of Life, Leiden, The Netherlands
    BMC Pediatr 8:35. 2008
    ..However, the effectiveness of slowed growth as a tool for identifying children with CD is unknown. Our aim is to study the diagnostic efficiency of several growth criteria used to detect CD children...
  11. pmc Motives for choosing growth-enhancing hormone treatment in adolescents with idiopathic short stature: a questionnaire and structured interview study
    Hanneke Visser-van Balen
    Department of Pediatric Psychology, University Medical Center Utrecht, Wilhelmina Children s Hospital, P O Box 85090, 3508 AB Utrecht, The Netherlands
    BMC Pediatr 5:15. 2005
    ..The aim of our study was to clarify the motives of adolescents and their parents when choosing to participate in a growth-enhancing trial combining growth hormone and puberty-delaying hormone treatment...
  12. pmc Catch-up growth up to ten years of age in children born very preterm or with very low birth weight
    Noël B B Knops
    Department of Paediatrics, Leiden University Medical Center, J6S, PO Box 2600, 2300 RC Leiden, The Netherlands
    BMC Pediatr 5:26. 2005
    ..Most studies report stunting in children born very preterm and/or small for gestational age. In this article we study the growth pattern of these children and aim to identify factors associated with postnatal catch-up growth...
  13. pmc The diagnostic work up of growth failure in secondary health care; an evaluation of consensus guidelines
    Floor K Grote
    Dept of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
    BMC Pediatr 8:21. 2008
    ..In the present paper we evaluate the diagnostic work-up in secondary health care according to existing consensus guidelines and study the frequency of underlying medical disorders...
  14. pmc Adenomatous polyposis coli-mediated control of beta-catenin is essential for both chondrogenic and osteogenic differentiation of skeletal precursors
    Razvan L Miclea
    Department of Tissue Regeneration, Institute for Biomedical Technology, University of Twente, Enschede, The Netherlands
    BMC Dev Biol 9:26. 2009
    ..Adenomatous polyposis coli (Apc) is a key controller of beta-catenin turnover by down-regulating intracellular levels of beta-catenin...
  15. ncbi Idiopathic short stature: definition, epidemiology, and diagnostic evaluation
    J M Wit
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Growth Horm IGF Res 18:89-110. 2008
    ..ISS is the diagnostic group that remains after excluding known conditions in short children...
  16. ncbi Preterm growth restraint: a paradigm that unifies intrauterine growth retardation and preterm extrauterine growth retardation and has implications for the small-for-gestational-age indication in growth hormone therapy
    J M Wit
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Pediatrics 117:e793-5. 2006
  17. ncbi Idiopathic short stature: management and growth hormone treatment
    J M Wit
    Department of Pediatrics, Leiden University Medical Center, P O Box 9600, Leiden, Zuid Holland, The Netherlands
    Growth Horm IGF Res 18:111-35. 2008
    ..In case of a low predicted adult height at the onset of puberty, addition of a GnRH analogue can be considered. Although GH therapy appears safe, long-term monitoring is recommended...
  18. ncbi Benefit of postponing normal puberty for improving final height
    J M Wit
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Endocrinol 151:S41-5. 2004
    ..More data on long-term safety have to be collected before the combination of GH and GnRHa in children with idiopathic short stature should be considered for clinical use outside clinical trials...
  19. ncbi European perspective on treatment approaches for growth failure
    Jan M Wit
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Pediatr Endocrinol Rev 5:862-8. 2008
  20. ncbi Growth hormone (GH) treatment to final height in children with idiopathic short stature: evidence for a dose effect
    Jan M Wit
    Leiden University Medical Center, Leiden, The Netherlands
    J Pediatr 146:45-53. 2005
    ..2)...
  21. ncbi Optimizing growth hormone therapy in growth hormone deficient children: what to do in the absence of hard evidence? Commentary on Rachmiel et al.: Final height in children with idiopathic growth hormone deficiency treated with a fixed dose of recombinant
    J M Wit
    Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res 68:244-7. 2007
  22. doi Genetic evaluation of short stature
    J M Wit
    Department of Paediatrics, J6S Leiden University Medical Center, Leiden, The Netherlands
    Best Pract Res Clin Endocrinol Metab 25:1-17. 2011
    ..If no obvious candidate gene can be determined, a whole genome approach can be taken to check for deletions, duplications and/or uniparental disomies...
  23. doi Endocrine regulation of longitudinal bone growth
    Jan M Wit
    Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Endocr Dev 21:30-41. 2011
    ..Finally, the paracrine-autocrine SHOX-BNP pathway and the related CNP-NPR2 pathway are also involved in growth, as very many other growth factors and their receptors and mediators...
  24. ncbi A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulin-like growth factor I receptor
    M J E Walenkamp
    Department of Pediatrics J6 S, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    J Clin Endocrinol Metab 91:3062-70. 2006
    ..The type 1 IGF-I receptor (IGF1R) mediates the biological functions of IGF-I. Binding of IGF-I to the IGF1R results in autophosphorylation of the intracellular beta-subunit and activation of intracellular signaling...
  25. ncbi A randomized controlled trial of three years growth hormone and gonadotropin-releasing hormone agonist treatment in children with idiopathic short stature and intrauterine growth retardation
    G A Kamp
    Department of Pediatrics, Leiden University Medical Center, Sophia Children's Hospital Rotterdam, The Netherlands
    J Clin Endocrinol Metab 86:2969-75. 2001
    ..This resulted in a considerable gain in predicted adult height, without demonstrable side effects. Final height results will provide the definite answer on the effectiveness of this combined treatment...
  26. ncbi Expression of estrogen receptors and enzymes involved in sex steroid metabolism in the rat tibia during sexual maturation
    B C J van der Eerden
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    J Endocrinol 180:457-67. 2004
    ..This process may contribute to the beneficial effects of estrogen on bone mass accrual, possibly by intracrinology...
  27. doi Intelligence of very preterm or very low birthweight infants in young adulthood
    N Weisglas-Kuperus
    Division of Neonatology, Department of Pediatrics, Erasmus MC Sophia Children s Hospital, Dr Molewaterplein 60, 3015 GJ Rotterdam, The Netherlands
    Arch Dis Child Fetal Neonatal Ed 94:F196-200. 2009
    ..To examine the effect of intrauterine and neonatal growth, prematurity and personal and environmental risk factors on intelligence in adulthood in survivors of the early neonatal intensive care era...
  28. ncbi Antenatal glucocorticoid treatment is not associated with long-term metabolic risks in individuals born before 32 weeks of gestation
    M J J Finken
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Arch Dis Child Fetal Neonatal Ed 93:F442-7. 2008
    ..Findings from studies in humans on this topic are highly contradictory due to a number of methodological flaws, and renal function after glucocorticoid exposure has never been assessed...
  29. doi The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein
    H A van Duyvenvoorde
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Growth Horm IGF Res 21:44-50. 2011
    ..In this paper we describe the structural and functional characteristics of the putative truncated IGF-I protein...
  30. doi Health-related quality of life of very preterm infants at 1 year of age after two developmental care-based interventions
    S M van der Pal
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Child Care Health Dev 34:619-25. 2008
    ..The individualized approach of the NIDCAP was thought to further increase HRQoL...
  31. ncbi Mutations in the NSD1 gene in patients with Sotos syndrome associate with endocrine and paracrine alterations in the IGF system
    L de Boer
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Endocrinol 151:333-41. 2004
    ....
  32. ncbi Pubertal development in The Netherlands 1965-1997
    D Mul
    Department of Paediatrics, Erasmus University Medical Centre Sophia Children s Hospital, Rotterdam, The Netherlands
    Pediatr Res 50:479-86. 2001
    ..In conclusion, in The Netherlands the age at onset of puberty or menarche has stabilized since 1980. Height, weight, and body mass index have a strong influence on the chance of menarche...
  33. ncbi Growth hormone (GH) secretion and response to GH therapy after total body irradiation and haematopoietic stem cell transplantation during childhood
    B Bakker
    Department of Paediatrics, Leiden University Medical Centre, Leiden, The Netherlands
    Clin Endocrinol (Oxf) 67:589-97. 2007
    ..In January 1997 we introduced a protocol for the treatment with GH of children with impaired growth after unfractionated total body irradiation (TBI). This study is an evaluation of that protocol...
  34. doi Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene
    H A van Duyvenvoorde
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    J Clin Endocrinol Metab 95:E363-7. 2010
    ..Homozygous IGF1 deletions or mutations lead to severe short stature, deafness, microcephaly, and mental retardation. Heterozygosity for an IGF-I defect may modestly decrease height and head circumference...
  35. doi High-dose GH treatment limited to the prepubertal period in young children with idiopathic short stature does not increase adult height
    S A van Gool
    Department of Pediatrics, Leiden University Medical Center, Postal Zone J6 S, Albinusdreef 2, 2333 ZA Leiden, The Netherlands
    Eur J Endocrinol 162:653-60. 2010
    ..To assess the long-term effect of prepubertal high-dose GH treatment on growth in children with idiopathic short stature (ISS)...
  36. ncbi Developing evidence-based guidelines for referral for short stature
    F K Grote
    Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Arch Dis Child 93:212-7. 2008
    ..To establish evidence-based guidelines for growth monitoring on a population basis...
  37. ncbi Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit
    H A van Duyvenvoorde
    Departments of Paediatrics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
    Eur J Endocrinol 159:113-20. 2008
    ..Acid-labile subunit (ALS) deficiency due to homozygous inactivation of the ALS gene (IGFALS) is associated with moderate short stature, and in few cases pubertal delay. The clinical expression of heterozygosity is unknown...
  38. ncbi No change in developmental outcome with incubator covers and nesting for very preterm infants in a randomised controlled trial
    C M Maguire
    Department of Pediatrics, Subdivision of Neonatology, Leiden University Medical Center, Leiden, The Netherlands
    Arch Dis Child Fetal Neonatal Ed 94:F92-7. 2009
    ..To investigate in a randomised controlled trial the effect of basic elements of developmental care (incubator covers and positioning aids) on growth and neurodevelopment in infants born at < 32 weeks...
  39. ncbi Evidence for genomic and nongenomic actions of estrogen in growth plate regulation in female and male rats at the onset of sexual maturation
    B C J van der Eerden
    Department of Pediatrics, Leiden University Medical Center, The Netherlands
    J Endocrinol 175:277-88. 2002
    ..There may be a role for nongenomic signaling in body weight gain, tibial length and growth plate width but genomic signaling prevails...
  40. ncbi Biochemical markers of growth hormone (GH) sensitivity in children with idiopathic short stature: individual capacity of IGF-I generation after high-dose GH treatment determines the growth response to GH
    G A Kamp
    Department of Pediatrics, Leiden University Medical Center, The Netherlands
    Clin Endocrinol (Oxf) 57:315-25. 2002
    ..To assess multiple dose-response relationships between three GH doses (1.5, 3.0 and 6.0 IU/m2) and nine different biochemical markers of GH sensitivity in a well-defined group of 17 children with idiopathic short stature (ISS)...
  41. ncbi Catch-up growth and endocrine changes in childhood celiac disease. Endocrine changes during catch-up growth
    B Boersma
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res 58:57-65. 2002
    ..Although several correlations between these endocrine alterations and auxological parameters were detected, it is questionable whether the endocrine changes are the driving force behind catch-up growth...
  42. ncbi Genetic analysis of short children with apparent growth hormone insensitivity
    J M Wit
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res Paediatr 77:320-33. 2012
    ..In short children, a low IGF-I and normal GH secretion may be associated with various monogenic causes, but their prevalence is unknown. We aimed at testing GH1, GHR, STAT5B, IGF1, and IGFALS in children with GH insensitivity...
  43. ncbi Genetic analysis of tall stature
    S G Kant
    Center for Human and Clinical Genetics, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res 64:149-56. 2005
    ..The various possibilities are discussed and placed in a flowchart...
  44. ncbi Pubertal development and growth after total-body irradiation and bone marrow transplantation for haematological malignancies
    B Bakker
    Department of Paediatrics, Leiden University Medical Centre, The Netherlands
    Eur J Pediatr 159:31-7. 2000
    ..Decrease in height SDS was seen in the majority of patients and was positively correlated with male gender and lower age at the time of BMT...
  45. ncbi Psychosocial, cognitive, and motor functioning in patients with suspected Sotos syndrome: a comparison between patients with and without NSD1 gene alterations
    L de Boer
    Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Dev Med Child Neurol 48:582-8. 2006
    ....
  46. pmc Nationwide age references for sitting height, leg length, and sitting height/height ratio, and their diagnostic value for disproportionate growth disorders
    A M Fredriks
    Department of Paediatrics, Leiden University Medical Center, Leiden, Netherlands
    Arch Dis Child 90:807-12. 2005
    ....
  47. doi Should blood gas analysis be part of the diagnostic workup of short children? Auxological data and blood gas analysis in children with renal tubular acidosis
    D Mul
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res Paediatr 74:351-7. 2010
    ..Renal tubular acidosis (RTA) is a rare cause of growth failure, therefore it is uncertain whether routine screening with blood gas analysis of short infants and children is cost-effective...
  48. ncbi Plasma insulin-like growth factors (IGFs), IGF-Binding proteins (IGFBPs), acid-labile subunit (ALS) and IGFBP-3 proteolysis in individuals with clinical characteristics of Sotos syndrome
    L de Boer
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    J Pediatr Endocrinol Metab 17:615-27. 2004
    ..We investigated whether this syndrome is related to alterations in plasma insulin-like growth factors (IGFs), IGF-binding proteins (IGFBPs), acid-labile subunit (ALS) and serum IGFBP-3 proteolysis...
  49. ncbi Parental experiences during the first period at the neonatal unit after two developmental care interventions
    S M van der Pal
    Department of Pediatrics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands
    Acta Paediatr 96:1611-6. 2007
    ....
  50. ncbi Growth of preterm born children
    A M Euser
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res 70:319-28. 2008
    ..In this review, we describe the growth of (very) preterm infants or (very) low-birth-weight infants from birth until adulthood...
  51. ncbi Is hypotension a major risk factor for neurological morbidity at term age in very preterm infants?
    S E Martens
    Department of Paediatrics, Leiden University Medical Center, J6 S PO Box 9600 2300 RC, Leiden, The Netherlands
    Early Hum Dev 75:79-89. 2003
    ..To investigate the influence of perinatal risk factors, especially hypotension, on neuromotor status at term in surviving preterm infants born before 32 weeks of gestation...
  52. pmc High dose growth hormone treatment induces acceleration of skeletal maturation and an earlier onset of puberty in children with idiopathic short stature
    G A Kamp
    Department of Pediatrics, Leiden University Medical Center, Netherlands
    Arch Dis Child 87:215-20. 2002
    ..As it is unknown whether GH treatment during puberty adds to final height gain, we sought to improve the cost-benefit ratio, employing a study design with high dose GH treatment restricted to the prepubertal period...
  53. ncbi Disturbances of growth and endocrine function after busulphan-based conditioning for haematopoietic stem cell transplantation during infancy and childhood
    B Bakker
    Department of Pediatrics, J6 208, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands
    Bone Marrow Transplant 33:1049-56. 2004
    ..We conclude that, besides gonadal and thyroid dysfunction, impaired growth and hyperparathyroidism often occur after Bu/Cy conditioning for SCT and that growth impairment may be the result of insufficient GH secretion...
  54. ncbi Development and psychometric evaluation of the TAPQOL: a health-related quality of life instrument for 1-5-year-old children
    M Fekkes
    Child Health Division, TNO Prevention and Health, Leiden University Medical Centre, Leiden, The Netherlands
    Qual Life Res 9:961-72. 2000
    ..This study shows that the TAPQOL is a reliable and valid parent's perception of HRQoL in preschool children. More research is needed to evaluate the psychometric performance of the TAPQOL in different clinical populations...
  55. ncbi Growth monitoring and diagnostic work-up of short stature: an international inventorization
    F K Grote
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    J Pediatr Endocrinol Metab 18:1031-8. 2005
    ..Growth monitoring is almost universally performed, but few data are available on which referral criteria and diagnostic work-up are used worldwide for children with short stature...
  56. ncbi The IGSF1 deficiency syndrome: characteristics of male and female patients
    S D Joustra
    MD, Department of Endocrinology and Metabolism C7 Q, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    J Clin Endocrinol Metab 98:4942-52. 2013
    ..However, clinical and biochemical data regarding growth, puberty, and metabolic outcome, as well as features of female carriers, are scarce...
  57. ncbi Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation
    M J E Walenkamp
    Department of Pediatrics J6 S, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    J Clin Endocrinol Metab 90:2855-64. 2005
    ..Remarkably, IGF-I deficiency is relatively well tolerated during the subsequent four decades of adulthood. IGF-I haploinsufficiency results in subtle inhibition of intrauterine and postnatal growth...
  58. ncbi Could cortisol explain the association between birth weight and cardiovascular disease in later life? A meta-analysis
    N van Montfoort
    Department of Clinical Epidemiology, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    Eur J Endocrinol 153:811-7. 2005
    ..However, their findings were inconsistent. To quantitatively assess the overall association between birth weight and circulating cortisol level, we aimed to perform a meta-analysis of the published literature...
  59. ncbi Height, weight, body mass index and pubertal development references for children of Moroccan origin in The Netherlands
    A M Fredriks
    Department of Paediatrics, Leiden University Medical Centre, Leiden, The Netherlands
    Acta Paediatr 93:817-24. 2004
    ..To provide growth and sexual maturation reference data for Moroccan children living in The Netherlands and to compare them with the reference data of children of Dutch origin...
  60. ncbi Tall stature and duplication of the insulin-like growth factor I receptor gene
    S G Kant
    Department of Clinical Genetics, CHCG, Leiden University Medical Center, Leiden, The Netherlands
    Eur J Med Genet 50:1-10. 2007
    ..Looking for a duplication of the 15qter region is still worth consideration in patients with tall stature and features of Sotos syndrome without an NSD1 alteration, especially when there is craniosynostosis or marked speech delay...
  61. ncbi Impact of the exon 3-deleted growth hormone (GH) receptor polymorphism on baseline height and the growth response to recombinant human GH therapy in GH-deficient (GHD) and non-GHD children with short stature: a systematic review and meta-analysis
    M J E Wassenaar
    Department of Endocrinology and Metabolic Diseases, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
    J Clin Endocrinol Metab 94:3721-30. 2009
    ..The exon-3 deleted GH receptor (GHR(d3)) polymorphism is associated with an increased growth response to recombinant human GH (rhGH) therapy in some, but not all, studies in GH-deficient (GHD) and non-GHD children with short stature...
  62. ncbi Effect of x-irradiation on growth and the expression of parathyroid hormone-related peptide and Indian hedgehog in the tibial growth plate of the rat
    B Bakker
    Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res 59:35-41. 2003
    ..To study the effect of irradiation on the longitudinal growth and the expression of parathyroid hormone-related peptide (PTHrP) and Indian hedgehog (IHh) in tibial growth plates of rats...
  63. ncbi Health status development in a cohort of preterm children
    N C Theunissen
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    J Pediatr 137:534-9. 2000
    ..To determine the impact of preterm birth on health status (HS) development at the ages of 5 and 10 years in a cohort of children born before term...
  64. ncbi Sex steroid metabolism in the tibial growth plate of the rat
    B C J van der Eerden
    Department of Pediatrics, Leiden University Medical Center, The Netherlands
    Endocrinology 143:4048-55. 2002
    ..Our data suggest that intracrinology in the rat growth plate can occur and may be a major source of local sex steroid delivery...
  65. doi Inhibition of Gsk3β in cartilage induces osteoarthritic features through activation of the canonical Wnt signaling pathway
    R L Miclea
    Department of Pediatrics, Leiden University Medical Centre, Leiden, Netherlands
    Osteoarthritis Cartilage 19:1363-72. 2011
    ..In this study we wanted to further investigate the role of Gsk3β in cartilage maintenance...
  66. ncbi Dehydroepiandrosterone sulfate treatment for atrichia pubis
    J M Wit
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res 56:134-9. 2001
    ..To evaluate the efficacy of oral dehydroepiandrosterone sulfate (DHEAS) treatment for atrichia pubis in female adolescents...
  67. ncbi Growth hormone (GH) secretion in patients with an inactivating defect of the GH-releasing hormone (GHRH) receptor is pulsatile: evidence for a role for non-GHRH inputs into the generation of GH pulses
    F Roelfsema
    Department of Endocrinology and Metabolism, Leiden University Medical Center, 2333AA Leiden, The Netherlands
    J Clin Endocrinol Metab 86:2459-64. 2001
    ..In addition, we infer that effectual GHRH input controls the GH cell mass and the orderliness of the secretory process...
  68. ncbi Preterm birth and later insulin resistance: effects of birth weight and postnatal growth in a population based longitudinal study from birth into adult life
    M J J Finken
    Department of Pediatrics, Leiden University Medical Center, P O Box 9600, 2300, RC Leiden, The Netherlands
    Diabetologia 49:478-85. 2006
    ....
  69. ncbi Genetic disorders in the growth hormone - insulin-like growth factor-I axis
    M J E Walenkamp
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res 66:221-30. 2006
    ..To help in this selection process, we developed flowcharts, based on the recently described patients, that can be used as guidelines in the diagnostic process of patients with severe short stature of unknown origin...
  70. pmc Longitudinal analysis of growth and puberty in 21-hydroxylase deficiency patients
    H J Van der Kamp
    Department of Paediatrics, Leiden University Medical Center, Leiden, Netherlands
    Arch Dis Child 87:139-44. 2002
    ..To evaluate growth from diagnosis until final height (FH) in 21-hydroxylase deficiency patients...
  71. ncbi Radiographic evaluation of children with growth disorders
    S G Kant
    Center for Human and Clinical Genetics, Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res 68:310-5. 2007
    ..The combination of clinical and biochemical features and an appropriate skeletal survey can often lead to the correct diagnosis and/or guide the subsequent molecular analysis...
  72. ncbi Genetic disorders in the GH IGF-I axis in mouse and man
    M J E Walenkamp
    Department of Pediatrics J6 S, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, The Netherlands
    Eur J Endocrinol 157:S15-26. 2007
    ..Finally, the implications of a genetic defect in the GH-IGF-I axis for the patient and the therapeutic options will be discussed...
  73. doi Social lifestyle, risk-taking behavior, and psychopathology in young adults born very preterm or with a very low birthweight
    Elysee T M Hille
    Leiden University Medical Center, Leiden, The Netherlands
    J Pediatr 152:793-800, 800.e1-4. 2008
    ..To assess social lifestyle, risk-taking behavior, and psychopathology in young adults born very preterm or with a very low birthweight...
  74. ncbi The estrogen receptor in the growth plate: implications for pubertal growth
    B C van der Eerden
    Department of Pediatrics, Leiden University Medical Center, The Netherlands
    J Pediatr Endocrinol Metab 14:1527-33. 2001
    ..With the recent development of knockout models for both estrogen receptors, attempts are being made to unravel the local actions of estrogen in order to characterize further their roles in the regulation of longitudinal growth...
  75. ncbi Gender differences in expression of androgen receptor in tibial growth plate and metaphyseal bone of the rat
    B C J van der Eerden
    Department of Pediatrics, Leiden University Medical Center, The Netherlands
    Bone 30:891-6. 2002
    ....
  76. ncbi Growth hormone therapy
    J M Wit
    Department of Paediatrics, Leiden University Medical Center, P O Box 9600, 2300 RC Leiden, The Netherlands
    Best Pract Res Clin Endocrinol Metab 16:483-503. 2002
    ..33 mg/kg/week is 5-7 cm. GH is efficacious in short stature due to chronic renal failure and Prader-Willi syndrome. In other conditions insufficient data are available. There are few side-effects...
  77. ncbi Growth-reductive therapy in children with marfan syndrome
    L Rozendaal
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    J Pediatr 147:674-9. 2005
    ..To determine the accuracy and precision of 2 height-prediction methods in Marfan syndrome and to assess the growth-reductive effect and side effects of sex hormone treatment...
  78. pmc Short stature and the probability of coeliac disease, in the absence of gastrointestinal symptoms
    J C W van Rijn
    Department of Paediatrics, Leiden University Medical Center, Netherlands
    Arch Dis Child 89:882-3. 2004
  79. ncbi Genetic analysis of short stature
    S G Kant
    CHCG Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Horm Res 60:157-65. 2003
    ..Important options are UPD7 and the FGFR3, SHOX, GH1 and GHR genes. Furthermore, analysis of the IGF and IGF1R genes should be considered. We propose a flow chart for molecular analysis in short stature...
  80. ncbi Final height gain by GH therapy in children with idiopathic short stature is dose dependent
    J M Wit
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    J Clin Endocrinol Metab 87:604-11. 2002
    ..8 cm). We conclude that a GH dosage of 27 IU (9 mg)/m(2) x wk to prepubertal children with ISS leads to a mean FH gain of approximately 7 cm, whereas regimens starting on lower dosages are less efficacious...
  81. ncbi Clinicians' perspective on quality of life assessment in paediatric clinical practice
    R M Baars
    Department of Paediatrics, Leiden University Medical Centre, Leiden, The Netherlands
    Acta Paediatr 93:1356-62. 2004
    ..This study was undertaken to investigate paediatric clinicians' views on and use of quality of life (QoL) assessment in clinical practice...
  82. ncbi Expression of estrogen receptor alpha and beta in the epiphyseal plate of the rat
    B C J van der Eerden
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Bone 30:478-85. 2002
    ..Furthermore, our data indicate that the absence of growth-plate closure in the rat cannot be explained by disappearance of ER alpha expression during sexual maturation per se...
  83. ncbi Skin fibroblasts of children with idiopathic short stature show an increased mitogenic response to IGF-I and secrete more IGFBP-3
    Gerdine A Kamp
    Department of Pediatrics, Leiden University Medical Center J6 204, PO Box 9600, 2300 RC Leiden, The Netherlands
    Clin Endocrinol (Oxf) 56:439-47. 2002
    ..Secondly, to investigate whether these cellular parameters can predict the growth response to GH treatment in children with ISS...
  84. pmc Adult height in patients with early onset of Crohn's disease
    N Alemzadeh
    Department of Gastroenterology Hepatology, Leiden University Medical Centre, Leiden, The Netherlands
    Gut 51:26-9. 2002
    ..Growth impairment during childhood and adolescence is a common problem faced by patients with an early onset of Crohn's disease...
  85. ncbi Behaviour at 2 years of age in very preterm infants (gestational age < 32 weeks)
    G M S J Stoelhorst
    Department of Paediatrics, Leiden University Medical Centre, The Hague, The Netherlands
    Acta Paediatr 92:595-601. 2003
    ..The objective of this study was to determine behavioural outcome and risk factors for abnormal behaviour at 2 y corrected age in very premature infants in a regionally defined, prospective cohort study...
  86. ncbi In vivo and in vitro studies in a 46, XY phenotypically female infant with 17-ketosteroid reductase deficiency
    J M Wit
    Department of Pediatrics, University Hospital for Children and Youth, Het Wilhelmina Kinderziekenhuis, Utrecht, The Netherlands
    Horm Metab Res 20:367-74. 1988
    ..The activity of 3 beta-hydroxysteroid-dehydrogenase was slightly increased. The serial analysis of plasma androgens provides more insight in the natural history of 17-ketosteroid reductase...
  87. ncbi Adult height corrected for shrinking and secular trend
    R Niewenweg
    Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Ann Hum Biol 30:563-9. 2003
    ....
  88. doi Single gene mutations causing SGA
    Marie J E Walenkamp
    Department of Paediatrics, J6 S, Leiden University Medical Centre, PO Box 9600, 2300 RC Leiden, The Netherlands
    Best Pract Res Clin Endocrinol Metab 22:433-46. 2008
    ..The phenotype in relation to the genotype of the different disorders will be reviewed in this chapter...
  89. ncbi The short stature homeodomain protein SHOX induces cellular growth arrest and apoptosis and is expressed in human growth plate chondrocytes
    Antonio Marchini
    Institute of Human Genetics, University of Heidelberg, Im Neuenheimer Feld 328, D 69120 Heidelberg, Germany
    J Biol Chem 279:37103-14. 2004
    ..This study provides the first insight into the biological function of SHOX as regulator of cellular proliferation and viability and relates these cellular events to the phenotypic consequences of SHOX deficiency...
  90. ncbi The effect of perinatal risk factors on growth in very preterm infants at 2 years of age: the Leiden Follow-Up Project on Prematurity
    Monique Rijken
    Department of Paediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Early Hum Dev 83:527-34. 2007
    ..To describe growth in infants <32 weeks GA. To assess the relationship between growth and perinatal factors (like intrauterine growth retardation and the postnatal use of dexamethasone) and neurodevelopmental outcome...
  91. ncbi Structural and functional characteristics of the Val44Met insulin-like growth factor I missense mutation: correlation with effects on growth and development
    Adam Denley
    School of Molecular and Biomedical Science, University of Adelaide, Adelaide, 5005 South Australia
    Mol Endocrinol 19:711-21. 2005
    ....
  92. ncbi Long-term height gain of prematurely born children with neonatal growth restraint: parallellism with the growth pattern of short children born small for gestational age
    Martijn J J Finken
    Department of Pediatrics, Leiden University Medical Center, PO Box 9600, 2300 RC Leiden, Netherlands
    Pediatrics 118:640-3. 2006
    ....
  93. ncbi Confusion around the definition of small for gestational age
    Jan M Wit
    Pediatr Endocrinol Rev 3:52-3; author reply 54. 2005
  94. ncbi Patterns of growth and body proportions after total-body irradiation and hematopoietic stem cell transplantation during childhood
    Boudewijn Bakker
    Department of Pediatrics, Leiden University Medical Center, The Netherlands
    Pediatr Res 59:259-64. 2006
    ....
  95. ncbi Auxological data in patients clinically suspected of Sotos syndrome with NSD1 gene alterations
    Lonneke de Boer
    Department of Paediatrics, Leiden University Medical Centre, Leiden, The Netherlands
    Acta Paediatr 94:1142-4. 2005
    ..The aim was to investigate which auxology parameters relate to NSD1+/- in patients clinically suspected of Sotos syndrome...
  96. ncbi Effect of growth hormone dose on bone maturation and puberty in children with idiopathic short stature
    Brenda J Crowe
    Eli Lilly and Company, Lilly Corporate Center, Indianapolis, Indiana 46285, USA
    J Clin Endocrinol Metab 91:169-75. 2006
    ..GH at 0.22 mg/kg.wk has been shown to have no effect on pubertal onset or pace, whereas GH at 0.5 mg/kg x wk has been shown to advance pubertal onset and bone maturation...
  97. ncbi Lipid profile and carotid intima-media thickness in a prospective cohort of very preterm subjects at age 19 years: effects of early growth and current body composition
    Martijn J J Finken
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    Pediatr Res 59:604-9. 2006
    ..Attempts to reduce the CVD risk in this specific population should focus on weight reduction in young adulthood rather than on optimizing the early growth pattern...
  98. ncbi Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation
    Solrun Vidarsdottir
    Department of Pediatrics J6 S, Leiden University Medical Center, P O Box 9600, 2300 RC, Leiden, The Netherlands
    J Clin Endocrinol Metab 91:3482-5. 2006
    ..Recently, two female patients with severe growth retardation and pulmonary and immunological problems were described with a defect in STAT5b, a critical intermediary of downstream GHR signaling...
  99. ncbi The role of p27Kip1 in the regulation of growth plate chondrocyte proliferation in mice
    Joyce A M Emons
    Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Pediatr Res 60:288-93. 2006
    ....
  100. ncbi Psychosocial functioning of adolescents with idiopathic short stature or persistent short stature born small for gestational age during three years of combined growth hormone and gonadotropin-releasing hormone agonist treatment
    Hanneke Visser-van Balen
    Department of Pediatric Psychology, University Medical Center Utrecht, Wilhelmina Children s Hospital, The Netherlands
    Horm Res 64:77-87. 2005
    ....
  101. ncbi Catch-up growth: testing the hypothesis of delayed growth plate senescence in humans
    Joyce A M Emons
    Department of Pediatrics, Leiden University Medical Center, Leiden, The Netherlands
    J Pediatr 147:843-6. 2005