Juliane Leger

Summary

Country: France

Publications

  1. pmc Hyperthyroidism in childhood: causes, when and how to treat
    Juliane Leger
    Universite Paris Diderot, Sorbonne Paris Cité, Paris France
    J Clin Res Pediatr Endocrinol 5:50-6. 2013
  2. doi request reprint Positive impact of long-term antithyroid drug treatment on the outcome of children with Graves' disease: national long-term cohort study
    Juliane Leger
    Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Service d endocrinologie pédiatrique, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, INSERM Unité 676, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris, France
    J Clin Endocrinol Metab 97:110-9. 2012
  3. doi request reprint [Long term outcome of children with congenital hypothyroidism]
    J Leger
    AP HP, Service d endocrinologie diabétologie pédiatrique, Inserm U 690, Centre de Référence Maladies Endocriniennes de la Croissance, Hopital Robert Debre, 48, boulevard Serurier, 75019 Paris, France
    Arch Pediatr 15:763-5. 2008
  4. ncbi request reprint The relationship between the GH/IGF-I axis and serum markers of bone turnover metabolism in healthy children
    Juliane Leger
    Pediatric Endocrinology Department, Centre de Référence des Maladies Endocriniennes Rares de la Croissance and INSERM Unit 690, Assistance Publique Hopitaux de Paris, Universite Paris VII, Robert Debre Hospital, France
    Eur J Endocrinol 157:685-92. 2007
  5. doi request reprint Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study
    Juliane Leger
    Pediatric Endocrinology Department, centre de référence maladies endocriniennes rares de la croissance, Institut National de la Santé et de la Recherche Médicale Unité 676, Hopital Robert Debre, 48 Bd Serurier, 75019 Paris, France
    J Clin Endocrinol Metab 96:1771-82. 2011
  6. ncbi request reprint Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes
    Mireille Castanet
    INSERM U457, Hopital Robert Debre, Paris, France
    Eur J Hum Genet 13:232-9. 2005
  7. ncbi request reprint Subnormal serum insulin-like growth factor-I levels in young adults with childhood-onset nonacquired growth hormone (GH) deficiency who recover normal gh secretion may indicate less severe but persistent pituitary failure
    Georges Gelwane
    Pediatric Endocrinology Department, Centre de Référence Maladies Endocriniennes de la Croissance and Institut National de la Santé et de la Recherche Médicale INSERM Unit 690, Paris, France
    J Clin Endocrinol Metab 92:3788-95. 2007
  8. doi request reprint Factors associated with hearing impairment in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study
    Lydia Lichtenberger-Geslin
    Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Service d endocrinologie diabétologie pédiatrique, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, F 75019 Paris, France
    J Clin Endocrinol Metab 98:3644-52. 2013
  9. ncbi request reprint Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study
    Rossella Gaudino
    Pediatric Endocrinology and Diabetes Unit, INSERM U 457, Hopital Robert Debre, 75019 Paris, France
    Clin Endocrinol (Oxf) 62:444-8. 2005
  10. ncbi request reprint Endocrine consequences of premature pubarche in post-pubertal Caucasian girls
    Taly Meas
    INSERM Unit 457, Robert Debre Hospital, Paris, France
    Clin Endocrinol (Oxf) 57:101-6. 2002

Detail Information

Publications50

  1. pmc Hyperthyroidism in childhood: causes, when and how to treat
    Juliane Leger
    Universite Paris Diderot, Sorbonne Paris Cité, Paris France
    J Clin Res Pediatr Endocrinol 5:50-6. 2013
    ....
  2. doi request reprint Positive impact of long-term antithyroid drug treatment on the outcome of children with Graves' disease: national long-term cohort study
    Juliane Leger
    Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Service d endocrinologie pédiatrique, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, INSERM Unité 676, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris, France
    J Clin Endocrinol Metab 97:110-9. 2012
    ..Drug-based therapy is usually the initial treatment for Graves' disease (GD) hyperthyroidism in children, but there is some debate about treatment duration...
  3. doi request reprint [Long term outcome of children with congenital hypothyroidism]
    J Leger
    AP HP, Service d endocrinologie diabétologie pédiatrique, Inserm U 690, Centre de Référence Maladies Endocriniennes de la Croissance, Hopital Robert Debre, 48, boulevard Serurier, 75019 Paris, France
    Arch Pediatr 15:763-5. 2008
  4. ncbi request reprint The relationship between the GH/IGF-I axis and serum markers of bone turnover metabolism in healthy children
    Juliane Leger
    Pediatric Endocrinology Department, Centre de Référence des Maladies Endocriniennes Rares de la Croissance and INSERM Unit 690, Assistance Publique Hopitaux de Paris, Universite Paris VII, Robert Debre Hospital, France
    Eur J Endocrinol 157:685-92. 2007
    ..There is evidence to suggest that IGF-I plays a role in regulating bone turnover...
  5. doi request reprint Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening: a longitudinal population-based cohort study
    Juliane Leger
    Pediatric Endocrinology Department, centre de référence maladies endocriniennes rares de la croissance, Institut National de la Santé et de la Recherche Médicale Unité 676, Hopital Robert Debre, 48 Bd Serurier, 75019 Paris, France
    J Clin Endocrinol Metab 96:1771-82. 2011
    ..Screening programs resulting in the early treatment of patients with congenital hypothyroidism (CH) have successfully improved neurodevelopmental outcome, but little is known about long-term health...
  6. ncbi request reprint Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genes
    Mireille Castanet
    INSERM U457, Hopital Robert Debre, Paris, France
    Eur J Hum Genet 13:232-9. 2005
    ..In conclusion, the present study demonstrates genetic heterogeneity in the TD disorder and suggests the involvement of novel genes...
  7. ncbi request reprint Subnormal serum insulin-like growth factor-I levels in young adults with childhood-onset nonacquired growth hormone (GH) deficiency who recover normal gh secretion may indicate less severe but persistent pituitary failure
    Georges Gelwane
    Pediatric Endocrinology Department, Centre de Référence Maladies Endocriniennes de la Croissance and Institut National de la Santé et de la Recherche Médicale INSERM Unit 690, Paris, France
    J Clin Endocrinol Metab 92:3788-95. 2007
    ....
  8. doi request reprint Factors associated with hearing impairment in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study
    Lydia Lichtenberger-Geslin
    Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Service d endocrinologie diabétologie pédiatrique, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, F 75019 Paris, France
    J Clin Endocrinol Metab 98:3644-52. 2013
    ..Untreated hypothyroidism is known to impair hearing, but little is known about the long-term hearing of patients treated for congenital hypothyroidism (CH) since the neonatal period...
  9. ncbi request reprint Proportion of various types of thyroid disorders among newborns with congenital hypothyroidism and normally located gland: a regional cohort study
    Rossella Gaudino
    Pediatric Endocrinology and Diabetes Unit, INSERM U 457, Hopital Robert Debre, 75019 Paris, France
    Clin Endocrinol (Oxf) 62:444-8. 2005
    ..Six of these 85 patients were lost to follow-up and were therefore excluded from the study. During follow-up, patients were classified as having permanent or transient hypothyroidism...
  10. ncbi request reprint Endocrine consequences of premature pubarche in post-pubertal Caucasian girls
    Taly Meas
    INSERM Unit 457, Robert Debre Hospital, Paris, France
    Clin Endocrinol (Oxf) 57:101-6. 2002
    ..It has been postulated that intrauterine undernutrition may predispose to serious endocrine consequences, including precocious pubarche (PP), functional ovarian hyperandrogenism and insulin resistance syndrome...
  11. doi request reprint Monocentric study of 112 consecutive patients with childhood onset GH deficiency around and after transition
    Carine Courtillot
    AP HP, Hopital Pitie Salpetriere, Endocrinologie et Médecine de la Reproduction, 47 83, Boulevard de l Hopital, Paris F 75013, France
    Eur J Endocrinol 169:587-96. 2013
    ....
  12. doi request reprint Predictors of autoimmune hyperthyroidism relapse in children after discontinuation of antithyroid drug treatment
    Florentia Kaguelidou
    Institut National de la Santé et de la Recherche Médicale U690, Hopital Robert Debre, 75019 Paris, France
    J Clin Endocrinol Metab 93:3817-26. 2008
    ..There is debate about how Graves' disease (GD) should be treated in children...
  13. doi request reprint Pituitary-thyroid feedback in a patient with a sporadic activating thyrotropin (TSH) receptor mutation: implication that thyroid-secreted factors other than thyroid hormones contribute to serum TSH levels
    Georges Gelwane
    Pediatric Endocrinology Unit, Centre de Référence Maladies Endocriniennes de la Croissance, and INSERM Unité 690, Robert Debre Hospital, Universite Paris Diderot Paris 7, 48 Boulevard Serurier, Paris, France
    J Clin Endocrinol Metab 94:2787-91. 2009
    ..An ultrashort negative feedback loop affecting TSH secretion by activating the pituitary TSH receptor with TSH receptor autoantibodies has been suggested as a possible mechanism of TSH suppression in these patients...
  14. ncbi request reprint Additional phenotypic abnormalities with presence of cysts within the empty thyroid area in patients with congenital hypothyroidism with thyroid dysgenesis
    Daniella Marinovic
    Pediatric Endocrinology Unit and Institut National de la Santé et de la Recherche Médicale, U 457, Hopital Robert Debre, 75019 Paris, France
    J Clin Endocrinol Metab 88:1212-6. 2003
    ....
  15. doi request reprint Optimal use of growth hormone therapy for maximizing adult height in children born small for gestational age
    Dominique Simon
    Department of Paediatric Endocrinology and Diabetology, and INSERM U690, Hôpital Robert Debré and University Paris, 7 Denis Diderot, 75019 Paris, France
    Best Pract Res Clin Endocrinol Metab 22:525-37. 2008
    ..Longitudinal studies addressing the safety of GH treatment in SGA children are reassuring, but long-term follow-up remains necessary. Recommendations on the management of SGA children during GH treatment are given...
  16. ncbi request reprint Management of Graves' disease during pregnancy: the key role of fetal thyroid gland monitoring
    Dominique Luton
    Department of Perinatology, Multidisciplinary Center for Prenatal Diagnosis, Robert Debre Hospital, 75019 Paris, France
    J Clin Endocrinol Metab 90:6093-8. 2005
    ..Early diagnosis is essential to successful management. We investigated a new approach to the fetal diagnosis of thyroid dysfunction and validated the usefulness of fetal thyroid ultrasonograms...
  17. ncbi request reprint High proportion of pituitary abnormalities and other congenital defects in children with congenital nasal pyriform aperture stenosis
    Sophie Guilmin-Crepon
    Pediatric Endocrinology and Diabetes Unit, centre de référence maladies endocriniennes rares de la croissance, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Paris VII University, 75019 Paris, France
    Pediatr Res 60:478-84. 2006
    ..CNPAS may be a genetically heterogeneous condition with a large phenotypic variability that shares common etiological mechanisms with the various forms of the holoprosencephaly phenotype...
  18. ncbi request reprint Ultrasonographic assessment of the ectopic thyroid tissue in children with congenital hypothyroidism
    Daniela Marinovic
    Paediatric Endocrinology Unit and INSERM U457, Hopital Robert Debre, Boulevard Serrurier 48, 75019 Paris Cedex 19, France
    Pediatr Radiol 34:109-13. 2004
    ..It is diagnosed by using radionuclide thyroid scanning. OBJECTIVE. To evaluate the sensitivity of US in the detection of such ectopias and to describe their US pattern before and during treatment...
  19. ncbi request reprint Thyroid abnormalities by ultrasonography in neonates with congenital hypothyroidism
    Lida Bubuteishvili
    Paediatric Endocrinology Unit and INSERM U457, and Radiology Department, Hopital Robert Debre, Paris, France
    J Pediatr 143:759-64. 2003
    ..To investigate the usefulness of thyroid ultrasonography for neonates with congenital hypothyroidism. Study design Patients (n=66) were evaluated by ultrasonography at age 15.2+/-12 days...
  20. doi request reprint Cardiovascular findings and management in Turner syndrome: insights from a French cohort
    Bruno Donadille
    Department of Endocrinology, Centre de référence des Maladies Endocriniennes Rares de la Croissance CMERC, Assistance Publique Hopitaux de Paris, Saint Antoine Hospital, 184 rue du Faubourg Saint Antoine, 75011 Paris, France
    Eur J Endocrinol 167:517-22. 2012
    ..The objective of this study was to investigate the cardiovascular findings and management in a large cohort of patients, including children and adults...
  21. ncbi request reprint Lower bone mineral content in children with type 1 diabetes mellitus is linked to female sex, low insulin-like growth factor type I levels, and high insulin requirement
    Juliane Leger
    Pediatric Endocrinology Unit and INSERM U 690, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris, France
    J Clin Endocrinol Metab 91:3947-53. 2006
    ..Studies on bone mineral characteristics in children with type 1 diabetes mellitus (T1DM) have generated conflicting results...
  22. doi request reprint Fecundity in young adults treated early for congenital hypothyroidism is related to the initial severity of the disease: a longitudinal population-based cohort study
    Yasmine Hassani
    Pediatric Endocrinology Department, Centre de Référence Maladies Endocriniennes de la Croissance, Institut National de la Santé et de la Recherche Médicale Unité 690, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris, France
    J Clin Endocrinol Metab 97:1897-904. 2012
    ..Patients treated early for congenital hypothyroidism (CH) have yet to be evaluated in adulthood, because screening programs have been running for only the last 30 years in most industrialized countries...
  23. doi request reprint Graves' disease in childhood: advances in management with antithyroid drug therapy
    Florentia Kaguelidou
    Pediatric Endocrinology Department, Centre de Référence Maladies Endocriniennes de la Croissance, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Universite Paris VII, Paris, France
    Horm Res 71:310-7. 2009
    ..Long-term careful follow-up is needed to determine the efficacy of disease management during childhood...
  24. ncbi request reprint GH deficiency with central precocious puberty: a new rare disorder associated with a developmental defect of the hypothalamic-pituitary area
    Asmahane Ladjouze
    Pediatric Endocrinology Department, Reference Center for Rare Endocrine Growth Diseases, Assistance Publique Hopitaux de Paris, Robert Debre Hospital, Paris VII University, Paris, France
    Eur J Endocrinol 156:463-9. 2007
    ..However, idiopathic GHD associated with CPP has been reported in only one isolated case...
  25. doi request reprint An inactivating mutation within the first extracellular loop of the thyrotropin receptor impedes normal posttranslational maturation of the extracellular domain
    Sylvia Sura-Trueba
    Institut National de la Santé et de la Recherche Médicale INSERM Unité 690, Hopital Robert Debre, Paris, France
    Endocrinology 150:1043-50. 2009
    ....
  26. ncbi request reprint Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia
    Dominique Simon
    Pediatric Endocrinology and Diabetes Unit, Robert Debre Hospital, Assistance Publique Hopitaux de Paris, Paris VII University, France
    Clin Endocrinol (Oxf) 64:416-22. 2006
    ..The objective of this study was to improve the phenotypic characterization of children with PPE and growth hormone deficiency (GHD) to seek insight into the mechanisms underlying abnormal pituitary-gland development...
  27. doi request reprint Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations
    Isabelle Bailleul-Forestier
    Paediatric Dentistry, Garancière Hotel Dieu Hospital, Assistance Publique Hopitaux de Paris, Paris Diderot University, France
    Int J Paediatr Dent 20:305-12. 2010
    ..To date, five genes for KS have been identified: KAL1, located on the X chromosome, and FGFR1, PROKR2, PROK2 and FGF8, which are involved in autosomally transmitted forms of KS...
  28. ncbi request reprint [Precocious pubertal]
    Jean Claude Carel
    Service d endocrinologie diabétologie pédiatrique, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Hopital Robert Debre, Universite Paris Diderot Paris 7, 75935 Paris Cedex 19, France
    Rev Prat 58:1317-23. 2008
    ..When central precocious puberty has been confirmed, GnRH agonists should be considered. Management issues, as well as long term results of these treatments are presented...
  29. doi request reprint DNA polymorphisms of the KiSS1 3' untranslated region interfere with the folding of a G-rich sequence into G-quadruplex
    Lukas Huijbregts
    INSERM, U676, Hopital Robert Debre, 75935 Paris Cedex 19, France Paris Diderot University, 75018 Paris, France
    Mol Cell Endocrinol 351:239-48. 2012
    ..They highlight the potential role of this G-quadruplex in the regulation of KISS1 expression and in the timing of pubertal onset...
  30. doi request reprint Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys
    Laetitia Martinerie
    Pediatric Endocrinology Department, Bicetre Hospital, 78 rue du General Leclerc, Le Kremlin Bicetre, France
    Eur J Endocrinol 166:687-94. 2012
    ....
  31. pmc Unexpected endocrine features and normal pigmentation in a young adult patient carrying a novel homozygous mutation in the POMC gene
    Karine Clement
    Center of Research on Human Nutrition Ile de France, Paris, 75013, France
    J Clin Endocrinol Metab 93:4955-62. 2008
    ..Mutations that inactivate the POMC gene have been described in children, causing a pleiotropic syndrome that includes secondary hypocortisolism, severe obesity, and variable changes in skin and hair pigmentation...
  32. doi request reprint Prenatal pelvic MRI: Additional clues for assessment of urogenital obstructive anomalies
    Carmen Capito
    AP HP, Hopital Robert Debre, Service de Chirurgie Viscérale et d Urologie Pédiatriques, centre de référence de maladies endocriniennes Rares de la Croissance, F 75019 Paris, France Université Paris Diderot, Sorbonne Paris Cité, F 75019 Paris, France Electronic address
    J Pediatr Urol 10:162-6. 2014
    ..After having ruled out a cloaca anterior to a large hydrocolpos, it is important to differentiate between combined urogenital anomalies such as urogenital sinus and isolated genital anomalies...
  33. doi request reprint All-cause and disease-specific mortality and morbidity in patients with congenital hypothyroidism treated since the neonatal period: a national population-based study
    Ahlam Azar-Kolakez
    Hopital Robert Debre, Service d endocrinologie diabétologie pédiatrique, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, F 75019 Paris, France
    J Clin Endocrinol Metab 98:785-93. 2013
    ..Little is known about the long-term health of patients treated for congenital hypothyroidism since the neonatal period...
  34. ncbi request reprint Self-esteem and social adjustment in young women with Turner syndrome--influence of pubertal management and sexuality: population-based cohort study
    Jean Claude Carel
    Pediatric Endocrinology, Hopital Robert Debre, 48 Boulevard Serurier, 75935 Paris Cedex 19, France
    J Clin Endocrinol Metab 91:2972-9. 2006
    ..The influence of pubertal management on psychosocial adjustment and sex life has not been evaluated in Turner syndrome patients...
  35. ncbi request reprint [Normal and pathological puberty]
    Juliane Leger
    Service d endocrinologie pédiatrique, Centre de référence maladies endocrininiennes rares de la croissance, Universite Paris VII, Hopital Robert Debre, 75019 Paris
    Rev Prat 56:1957-62. 2006
  36. doi request reprint Malignant and benign thyroid nodules after total body irradiation preceding hematopoietic cell transplantation during childhood
    Maritza Vivanco
    Assistance Publique Hopitaux de Paris, Service d endocrinologie pédiatrique, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris, France
    Eur J Endocrinol 167:225-33. 2012
    ..The risk of radiation-induced benign and malignant thyroid nodules is well known...
  37. ncbi request reprint Sex-specific impact of congenital hypothyroidism due to thyroid dysgenesis on skeletal maturation in term newborns
    Guy Van Vliet
    Service d endocrinologie pédiatrique, Hopital Robert Debre, 75019 Paris, France
    J Clin Endocrinol Metab 88:2009-13. 2003
    ..We conclude that the impact of congenital hypothyroidism on fetal skeletal maturation is sexually dimorphic. This may result from less efficient conversion of T(4) to T(3) by growth plate chondrocytes in males...
  38. ncbi request reprint Thyroid imaging in children
    Catherine Garel
    Department of Paediatric Imaging, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Paris, France
    Endocr Dev 10:43-61. 2007
    ....
  39. ncbi request reprint Do all patients with childhood-onset growth hormone deficiency (GHD) and ectopic neurohypophysis have persistent GHD in adulthood?
    Juliane Leger
    Pediatric Endocrinology and Diabetes Unit, Institut National de la Sante et de la Recherche Medicale, Unité 457, Hopital Robert Debre, 75019 Paris, France
    J Clin Endocrinol Metab 90:650-6. 2005
    ....
  40. doi request reprint European society for paediatric endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism
    Juliane Leger
    Université Paris Diderot J L, Sorbonne Paris Cité, F 75019 Paris, France Assistance Publique Hôpitaux de Paris AP HP, Hopital Robert Debre, Service d Endocrinologie Diabétologie Pédiatrique et Centre de Référence des Maladies Endocriniennes Rares de la Croissance, F 75019, Paris, France Institut National de la Santé et de la Recherche Médicale INSERM, Unité Mixte de Recherche 676, F 75019 Paris, France Department of Cell Biology and Neurosciences A O, Istituto Superiore di Sanita, 00161 Rome, Italy Child Health Section of Glasgow University School of Medicine M D, Royal Hospital for Sick Children, Yorkhill, Glasgow G3 8SJ, Scotland, United Kingdom Swiss Neonatal Screening Laboratory T T, University Children s Hospital, CH 8032 Zurich, Switzerland Department of Pediatric Endocrinology and Diabetes H K, Charite Children s Hospital, Berlin 10117, Germany Endocrinology Service and Research Center G v V, Centre Hospitalier Universitaire Sainte Justine and Department of Pediatrics, University of Montreal, Montreal, Canada H3T 1C5 AP HP, Hopital Necker Enfants Malades, Endocrinologie, Gynécologie et Diabétologie Pédiatriques M P, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Universite Paris Descartes, Sorbonne Paris Cité, USA
    J Clin Endocrinol Metab 99:363-84. 2014
    ..Individuals with CH require monitoring throughout their lives, particularly during early childhood and pregnancy. ..
  41. doi request reprint Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency
    Zeina Chakhtoura
    AP HP, Department of Endocrinology and Reproductive Medicine, Groupe Hospitalier Pitie Salpetriere, 47 83 boulevard de l Hopital, 75651 Paris Cedex 13, France
    Eur J Endocrinol 158:879-87. 2008
    ..The aim of this study was to know whether cumulative glucocorticoid dose from the diagnosis in childhood to adulthood in patients with CAH had a negative impact on bone mineral density (BMD)...
  42. doi request reprint Different mechanisms of intestinal calcium absorption at different life stages: therapeutic implications and long-term responses to treatment in patients with hereditary vitamin D-resistant rickets
    Deepti Chaturvedi
    Service d endocrinologie pédiatrique, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Paris, France
    Horm Res Paediatr 78:326-31. 2012
    ..Intestinal calcium absorption is regulated principally by 1,25-dihydroxyvitamin D, but other regulators are also involved...
  43. doi request reprint Intermittent hyperglycemia due to autonomic nervous system dysfunction: a new feature in patients with congenital central hypoventilation syndrome
    Georges Gelwane
    Pediatric Endocrinology Service, Assistance Publique Hopitaux de Paris, Hopital Robert Debre, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Paris, France
    J Pediatr 162:171-6.e2. 2013
    ..To analyze glycemic profile in children with congenital central hypoventilation syndrome, which is characterized by autonomic nervous system dysfunction...
  44. ncbi request reprint Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1)
    Delphine Zenaty
    Assistance Publique Hopitaux de Paris, Robert Debre Hospital Paediatric Endocrinology unit, Robert Debre Hospital, Paris, France
    Mol Cell Endocrinol 254:78-83. 2006
    ....
  45. ncbi request reprint Contribution of magnetic resonance imaging in non-tumoral hypopituitarism in children
    Catherine Garel
    Department of Pediatric Imaging, Hopital Robert Debre, Assistance Publique Hopitaux de Paris, Paris VII University, Paris, France
    Horm Res 67:194-202. 2007
    ..Magnetic resonance imaging (MRI) is of paramount importance for evaluating the hypothalamo-pituitary axis in children...
  46. doi request reprint Testicular function and physical outcome in young adult males diagnosed with idiopathic 46 XY disorders of sex development during childhood
    Thomas Blanc
    Pediatric Surgery and Urology Department, centre de référence maladies endocriniennes rares de la croissance, Hôpital Robert Debré Assistance Publique Hôpitaux de Paris and Univ Paris Diderot, Sorbonne Paris Cité, Paris, France
    Eur J Endocrinol 165:907-15. 2011
    ..We aimed to assess testicular function and clinical characteristics after puberty in men with idiopathic 46 XY DSD. Design We conducted a University Hospital-based observational follow-up study...
  47. doi request reprint Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndrome
    Raphaël Teissier
    INSERM U845, Universite Paris Descartes, Sorbonne Paris Cité, Paris, France
    Horm Res Paediatr 77:146-51. 2012
    ..NKX2.1 mutations have been identified in patients displaying complete or partial brain-lung-thyroid syndrome, which can include benign hereditary chorea (BHC), hypothyroidism and/or lung disease...
  48. ncbi request reprint Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism
    Juliane Leger
    Pediatric Endocrinology Unit and INSERM U457, Hopital Robert Debre, 75019 Paris, France
    J Clin Endocrinol Metab 87:575-80. 2002
    ..In conclusion, these observations support the hypothesis of a common genetic component of the disorder with heterogeneous phenotypes...
  49. ncbi request reprint The effect of in-utero undernutrition on the insulin resistance syndrome
    Delphine Jaquet
    INSERM Unité 457, Hopital Robert Debre, Paris 75019, France
    Curr Diab Rep 2:77-82. 2002
    ..Although the mechanism remains unclear, there is also some evidence that adipose tissue plays a role in the emergence of insulin resistance associated with in-utero undernutrition...
  50. ncbi request reprint Predictors of late menarche and adult height in children with anorexia nervosa
    Catherine Rozé
    Paediatric Endocrinology Department, Centre de Référence Maladies Endocriniennes Rares de la Croissance and Inserm U 690, Robert Debre Hospital, Universite Paris VII, Paris, France
    Clin Endocrinol (Oxf) 67:462-7. 2007
    ..The onset of anorexia nervosa (AN) during childhood can affect the timing of puberty and adult height. The aim of the study was to evaluate the determinants of late menarche and adult height in children with AN...