Michel Polak

Summary

Country: France

Publications

  1. ncbi request reprint [Hypothyroidism in child]
    Michel Polak
    Service d endocrinologie pédiatrique, INSERM EMI 363, Hopital Necker Enfants Malades, Paris
    Rev Prat 55:2173-80. 2005
  2. doi request reprint Therapeutic approach of fetal thyroid disorders
    Michel Polak
    Universite Paris Descartes, Pediatric Endocrinology, Hopital Necker Enfants Malades, AP HP, INSERM U845, Paris, France
    Horm Res Paediatr 74:1-5. 2010
  3. pmc Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland development
    Aurore Carre
    INSERM U845, Universite Paris Descartes, Paris, France
    PLoS ONE 6:e16752. 2011
  4. pmc Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus
    Amelie Bonnefond
    CNRS UMR 8199, Lille Pasteur Institute, Lille Nord de France University, F 59800 Lille, France
    J Biol Chem 286:28414-24. 2011
  5. doi request reprint Fetal thyroïdology
    Michel Polak
    Pediatric Endocrinology, Gynecology and Diabetology, Necker Enfants Malades Hospital, AP HP, Paris, France INSERM U845, IMAGINE affiliate, Universite Paris Descartes, Sorbonne Paris Cité, Paris, France Electronic address
    Best Pract Res Clin Endocrinol Metab 28:161-73. 2014
  6. doi request reprint Childhood craniopharyngioma: hypothalamus-sparing surgery decreases the risk of obesity
    E Elowe-Gruau
    Pediatric Endocrinology Gynecology and Diabetology Unit, Assistance Publique Hopitaux de Paris, Hopital Necker Enfants Malades, 75015 Paris, France
    J Clin Endocrinol Metab 98:2376-82. 2013
  7. pmc Efficacy of vinblastine in central nervous system Langerhans cell histiocytosis: a nationwide retrospective study
    Sophie Ng Wing Tin
    APHP UPMC, Service de Neurologie 2 Mazarin, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Orphanet J Rare Dis 6:83. 2011
  8. pmc Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration
    Pascal Philibert
    Service d Hormonologie, Hopital Lapeyronie, CHU Montpellier, and Université Montpellier 1, France
    Reprod Biol Endocrinol 8:28. 2010
  9. pmc Neonatal diabetes mellitus: a disease linked to multiple mechanisms
    Michel Polak
    Faculty of medicine Paris René Descartes, Paediatric Endocrinology and INSERM U845, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris, France
    Orphanet J Rare Dis 2:12. 2007
  10. 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

Detail Information

Publications79

  1. ncbi request reprint [Hypothyroidism in child]
    Michel Polak
    Service d endocrinologie pédiatrique, INSERM EMI 363, Hopital Necker Enfants Malades, Paris
    Rev Prat 55:2173-80. 2005
  2. doi request reprint Therapeutic approach of fetal thyroid disorders
    Michel Polak
    Universite Paris Descartes, Pediatric Endocrinology, Hopital Necker Enfants Malades, AP HP, INSERM U845, Paris, France
    Horm Res Paediatr 74:1-5. 2010
    ..Such interventions should only be performed by specialized teams with extensive experience in perinatal care...
  3. pmc Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland development
    Aurore Carre
    INSERM U845, Universite Paris Descartes, Paris, France
    PLoS ONE 6:e16752. 2011
    ....
  4. pmc Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus
    Amelie Bonnefond
    CNRS UMR 8199, Lille Pasteur Institute, Lille Nord de France University, F 59800 Lille, France
    J Biol Chem 286:28414-24. 2011
    ..Collectively, this study underscores a key role for KLF proteins in biochemical mechanisms of human diseases, in particular, early infancy onset diabetes mellitus...
  5. doi request reprint Fetal thyroïdology
    Michel Polak
    Pediatric Endocrinology, Gynecology and Diabetology, Necker Enfants Malades Hospital, AP HP, Paris, France INSERM U845, IMAGINE affiliate, Universite Paris Descartes, Sorbonne Paris Cité, Paris, France Electronic address
    Best Pract Res Clin Endocrinol Metab 28:161-73. 2014
    ..Specialized care of the fetus should be provided by skilled teams with extensive experience in prenatal care. ..
  6. doi request reprint Childhood craniopharyngioma: hypothalamus-sparing surgery decreases the risk of obesity
    E Elowe-Gruau
    Pediatric Endocrinology Gynecology and Diabetology Unit, Assistance Publique Hopitaux de Paris, Hopital Necker Enfants Malades, 75015 Paris, France
    J Clin Endocrinol Metab 98:2376-82. 2013
    ..Limited surgery minimizing hypothalamic damage may decrease the severe obesity rate at the expense of the need for radiotherapy to complete the treatment...
  7. pmc Efficacy of vinblastine in central nervous system Langerhans cell histiocytosis: a nationwide retrospective study
    Sophie Ng Wing Tin
    APHP UPMC, Service de Neurologie 2 Mazarin, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Orphanet J Rare Dis 6:83. 2011
    ..Vinblastine (VBL) is the standard treatment for systemic Langerhans cell histiocytosis (LCH), but little is known about its efficacy in central nervous system (CNS) mass lesions...
  8. pmc Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration
    Pascal Philibert
    Service d Hormonologie, Hopital Lapeyronie, CHU Montpellier, and Université Montpellier 1, France
    Reprod Biol Endocrinol 8:28. 2010
    ..Among the genetic causes of low-testosterone primary amenorrhea due to 46,XY DSD, SRY gene is reported to be frequently involved, but other genes, such as SF1 and WT1, have never been studied for their prevalence...
  9. pmc Neonatal diabetes mellitus: a disease linked to multiple mechanisms
    Michel Polak
    Faculty of medicine Paris René Descartes, Paediatric Endocrinology and INSERM U845, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris, France
    Orphanet J Rare Dis 2:12. 2007
    ..Insulin therapy and high caloric intake are the basis of the treatment. Insulin pump may offer an interesting therapeutic tool in this age group in experienced hands...
  10. 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...
  11. ncbi request reprint Thyroid function in fetuses with down syndrome
    Dominique Luton
    Department of Obstetrics and Gynaecology at Hôpital Beaujon, Paris, France
    Horm Res Paediatr 78:88-93. 2012
    ..We hypothesized that Down syndrome was associated with fetal hypothyroidism and tried to determine whether Down syndrome fetuses had evidence of hypothyroidism...
  12. ncbi request reprint Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesis
    Aurore Carre
    Faculty of Medicine René Descartes, Paris V, Site Necker, Institut National de la Santé et de la Recherche Médicale U845 and Pediatric Endocrine Unit Assistance Publique Hôpitaux de PARIS, Hopital Necker Enfants Malades, Paris, France
    Hum Genet 122:467-76. 2007
    ..We conclude that FOXE1 through its alanine containing stretch modulates significantly the risk of TD occurrence, enhancing a mechanism linking an alanine containing transcription factor to disease...
  13. doi request reprint Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group
    Michel Polak
    Faculty of Medicine, René Descartes Paris 5 University, Paris, France
    Diabetes 57:1115-9. 2008
    ..Our study aimed to investigate the genetic anomalies and clinical heterogeneity in PND patients who are negative for a K(ATP) channel mutation...
  14. doi request reprint Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case
    Aurore Carre
    University Paris Descartes, INSERM U845, 75270 Paris, France
    Hum Mol Genet 18:2266-76. 2009
    ..Additionally, our review shows that the majority of affected patients display neurological and/or thyroidal problems and that, although less frequent, lung disease is responsible for a considerable mortality...
  15. ncbi request reprint Management of neonates born to women with Graves' disease: a cohort study
    Alix Besançon
    Endocrinologie Gynécologie Diabétologie PédiatriquesHôpital Universitaire Necker Enfants Malades, Assistance Publique Hopitaux de Paris, 149 rue de Sevres, 75015 Paris FranceINSERM U1016IMAGINE Institute, Universite Paris Descartes, Sorbonne Paris Cité, Paris, FranceDépartement de Maternité Bichat BeaujonAssistance Publique Hôpitaux de Paris, DHU Risque et Grossesse, Universite Paris VII, Paris, France
    Eur J Endocrinol 170:855-62. 2014
    ..The aim of this study was to evaluate the course of thyroid function and clinical outcomes during the first postnatal month in babies born to mothers with GD...
  16. 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
    ....
  17. doi request reprint Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome
    Alaa Cheikhelard
    Department of Pediatric Surgery, APHP Hôpital Necker Enfants Malades and Université Paris Descartes, Paris, France
    J Urol 180:1496-501. 2008
    ..In parallel to the risks of virilization at puberty and gonadal tumor some additional features, such as need for vaginal surgery, were investigated...
  18. doi request reprint Neonatal hyperglycaemia and abnormal development of the pancreas
    Isabelle Flechtner
    Clinique des Maladies du Développement, Unité d endocrinologie, Diabétologie et Gynécologie Pédiatrique, Hopital Necker Enfants Malades, Paris, France
    Best Pract Res Clin Endocrinol Metab 22:17-40. 2008
    ..2 and SUR1 provides a tool for distinguishing transient from permanent neonatal diabetes mellitus in the neonatal period. Some patients (those with mutations in KCNJ11 and ABCC8) may be transferred from insulin therapy to sulphonylureas...
  19. 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
    ....
  20. ncbi request reprint Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus
    Gabor Szinnai
    Faculty of Medicine René Descartes, Paris V, Site Necker, Institut National de la Santé et de la Recherche Médicale Equipe Mixte 0363, Pediatric Endocrine Unit, Assistance Publique Hopitaux de Paris AP HP, Hopital Necker Enfants Malades, Paris, France
    J Clin Endocrinol Metab 92:70-6. 2007
    ..Terminal differentiation of the human thyroid is characterized by the onset of follicle formation and thyroid hormone synthesis at 11 gestational weeks (GW)...
  21. ncbi request reprint New cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a pitfall to neonatal screening
    Helton E Ramos
    Centre des Maladies Endocriniennes Rares de la Croissance, Hôpital Necker Enfants Malade, Assistance Publique Hopitaux de Paris, Institut National de la Santé et de la Recherche Médicale U845 and Pediatric Endocrine Unit, Universite Paris Descartes, Paris, France
    Thyroid 20:639-45. 2010
    ..TSHbeta gene mutation is one of the causes of CCH. We describe two cases of c.Q49X mutation and three cases of c.C105Vfs114X mutation in exon 3 of the TSH beta-subunit gene...
  22. ncbi request reprint European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism
    Juliane Leger
    Universite Paris Diderot, Sorbonne Paris Cité, Paris, France
    Horm Res Paediatr 81:80-103. 2014
    ..The aim was to formulate practice guidelines for the diagnosis and management of congenital hypothyroidism (CH)...
  23. doi request reprint Clinical description of infants with congenital hypothyroidism and iodide organification defects
    Paolo Cavarzere
    Pediatric Endocrinology Unit, Hopital Necker Enfants Malades, AP HP and University Paris Descartes, Faculty Necker, INSERM U845, Paris, France
    Horm Res 70:240-8. 2008
    ....
  24. ncbi request reprint Extending the clinical heterogeneity of iodide transport defect (ITD): a novel mutation R124H of the sodium/iodide symporter gene and review of genotype-phenotype correlations in ITD
    Gabor Szinnai
    Service d Endocrinologie Pédiatrique and Institut National de la Santé et de la Recherche Médicale, Equipe Mixte INSERM 0363, Hopital Necker Enfants Malades, 149 rue de Sevres, F 75743 Paris Cedex 15, France
    J Clin Endocrinol Metab 91:1199-204. 2006
    ..Defects of the sodium/iodide symporter gene (NIS) have been shown to cause ITD...
  25. ncbi request reprint PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformations
    Sylvia Sura Trueba
    Institut National de la Sante et de la Recherche Medicale, Unité 457, Hopital Robert Debre, Paris, France
    J Clin Endocrinol Metab 90:455-62. 2005
    ..In conclusion, the expression patterns described here show some differences from those reported in the mouse. They explain the malformations associated with TD in patients carrying PAX8, TITF1, and FOXE1 gene mutations...
  26. doi request reprint Thyroid disorders during pregnancy: impact on the fetus
    Michel Polak
    Universite Paris Descartes, Pediatric Endocrinology, AP HP, INSERM U845, Centre des Maladies Endocriniennes Rares de la Croissance, Hopital Necker Enfants Malades, Paris, France
    Horm Res Paediatr 76:97-101. 2011
    ..Advances in prenatal imaging techniques and in fetal hormonology now allow for identification of disorders of thyroid function in the fetus. These can potentially be treated in utero by giving drugs to the mother...
  27. ncbi request reprint Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequences
    Isabelle Flechtner
    Clinique des Maladies du Développement, Unité d endocrinologie, Diabétologie et Gynécologie Pédiatrique, Hopital Necker Enfants Malades, and Unité INSERM U845, Universite Paris V, France
    Endocr Dev 12:86-98. 2007
    ....
  28. ncbi request reprint Molecular mechanisms of thyroid dysgenesis
    Michel Polak
    Paediatric Endocrinology, Hopital Necker Enfants Malades, Paris, France
    Horm Res 62:14-21. 2004
    ..By increasing our knowledge of thyroid development, we hope to uncover new perspectives of genetic screening and eventually of early in utero treatment...
  29. pmc A Novel FOXE1 Mutation (R73S) in Bamforth-Lazarus Syndrome Causing Increased Thyroidal Gene Expression
    Aurore Carre
    1 Research Center for Growth and Signaling INSERM U845, Universite Paris Descartes, Sorbonne Paris Cité, Paris, France
    Thyroid 24:649-54. 2014
    ..This finding further delineates the role for FOXE1 in both thyroid and palate development, and shows that enhanced gene activity should be considered among the mechanisms underlying Bamforth-Lazarus syndrome. ..
  30. ncbi request reprint Thyroid function during pregnancy in women with past Graves' disease
    Dominique Luton
    Department of Perinatalogy, Multidisciplinary Centre for Prenatal Diagnosis EA3102, Robert Debre Teaching Hospital, Paris, France
    BJOG 112:1565-7. 2005
    ..We found no significant differences in the levels of these hormones between the two groups. Women with a past history of Graves' disease and no current treatment display a normal thyroid function and adaptation during pregnancy...
  31. ncbi request reprint Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene
    Domitille Gras
    AP HP, Service de Neuropediatrie, Hopital Trousseau, Paris, France
    J Neurol Neurosurg Psychiatry 83:956-62. 2012
    ..The aim of the study was to refine the movement disorders phenotype. We also studied disease course and response to therapy in a large series of genetically proven patients...
  32. doi request reprint Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia
    Paolo Cavarzere
    Pediatric Endocrinology Unit, INSERM U845, Hopital Necker Enfants Malades, Paris Descartes University, 75748 Paris, France
    Eur J Endocrinol 161:285-92. 2009
    ..The aims of this study were to describe a subgroup of infants with transient serum hyper-17-hydroxyprogesteronemia (hyper-17-OHPemia) and to compare them with false positive and affected by 21-hydroxylase deficiency newborns...
  33. ncbi request reprint Congenital hyperthyroidism: the fetus as a patient
    Michel Polak
    INSERM 0363, AP HP, Paris Descartes University, Paris, France
    Horm Res 65:235-42. 2006
    ..Fetal hyperthyroidism does exist and needs an appropriate aggressive treatment. Clearly the fetus has become our patient!..
  34. ncbi request reprint A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palate
    Mireille Castanet
    Paediatric Endocrinology Unit and INSERM U457, Paris, France
    Hum Mol Genet 11:2051-9. 2002
    ..Our observations support the role of TTF-2 in both thyroid and palate development but suggest phenotypic heterogeneity of this syndromic form of CH...
  35. ncbi request reprint What's new in metabolic and genetic hypoglycaemias: diagnosis and management
    Vassili Valayannopoulos
    Metabolic Department and Reference Centre for Metabolic Diseases, Necker Enfants Malades Hospital, 149, rue des Sèvres, 75015 Paris, France
    Eur J Pediatr 167:257-65. 2008
    ..New diagnostic tests such as the 18-fluoro-Dopa PET-scan have also been recently developed...
  36. ncbi request reprint Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome
    Loic de Pontual
    INSERM U781, Hopital Necker Enfants Malades, Paris, 75015, France
    Pediatr Res 64:689-94. 2008
    ..We ruled out PHOX2B, ASCL1, and NECDIN as disease-causing genes by direct sequencing in our series of patients and discuss possible disease-causing mechanisms...
  37. ncbi request reprint Coexistence in the same family of both focal and diffuse forms of hyperinsulinism
    Vassili Valayannopoulos
    Department of Metabolic Disorders, Hopital Necker Enfants Malades, Paris, France
    Diabetes Care 30:1590-2. 2007
  38. 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...
  39. doi request reprint High prevalence of hirsutism and menstrual disorders in obese adolescent girls and adolescent girls with type 1 diabetes mellitus despite different hormonal profiles
    Dinane Samara-Boustani
    Paediatric Endocrinology and Diabetes Unit, Assistance Publique Hopitaux de Paris, Universite Paris Descartes, Hopital Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
    Eur J Endocrinol 166:307-16. 2012
    ..To compare the pubertal development, the hormonal profiles and the prevalence of hirsutism and menstrual disorders in obese adolescent girls and adolescent girls with type 1 diabetes mellitus (T1DM)...
  40. 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)...
  41. ncbi request reprint Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failure
    Anne Bachelot
    AP HP, Department of Endocrinology and Reproductive Medicine, Centre de Référence des Maladies Endocriniennes Rares de la Croissance, Groupe Hospitalier Pitie Salpetriere, University Pierre et Marie Curie, Paris VI, 75013 Paris, France
    Eur J Endocrinol 161:179-87. 2009
    ..The etiology of POF remains unknown in most cases. We performed a global phenotyping of POF women with the aim of better orienting attempts at an etiological diagnosis...
  42. ncbi 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
    ..The aim was to formulate practice guidelines for the diagnosis and management of congenital hypothyroidism (CH)...
  43. doi request reprint Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care
    Helton Estrela Ramos
    INSERM U845 Pediatric Endocrinology and Gynecology, Centre des Maladies Endocriniennes Rares de la Croissance, AP HP, Necker Enfants Malades Hospital, Universite Paris Descartes, 75743 Paris, France
    Eur J Endocrinol 164:309-14. 2011
    ..Genetic counseling is so far based on X-linked transmission, and prenatal diagnosis is rarely performed...
  44. doi request reprint Epidemiology of thyroid dysgenesis: the familial component
    Mireille Castanet
    Paediatric Endocrinology Unit and INSERM U363, Hopital Necker Enfants Malades, Paris, France
    Horm Res Paediatr 73:231-7. 2010
    ..These studies strongly suggest the existence of a familial component of this disorder involving dominant genetic predisposition factors with a low penetrance...
  45. ncbi request reprint Hypothalamic lipoma associated with severe obesity. Report of 2 cases
    Stephanie Puget
    Department of Pediatric Neurosurgery, Necker Hopsital, Universite Paris Descaretes, Paris, France
    J Neurosurg Pediatr 4:147-50. 2009
    ..These cases highlight the importance of performing cranial MR imaging in children with otherwise unexplained obesity...
  46. ncbi request reprint Familial forms of thyroid dysgenesis
    Mireille Castanet
    Paediatric Endocrinology Unit and INSERM U845, Hopital Necker Enfants Malades, Paris, France
    Endocr Dev 10:15-28. 2007
    ..Therefore, further work is required to fully understand the pathophysiology of TD...
  47. doi request reprint Spectrum of Human Foxe1/TTF2 Mutations
    Mireille Castanet
    Faculty of Medicine René Descartes, Paris V, Site Necker, Institut National de la Santé et de la Recherche Médicale INSERM U845 and Pediatric Endocrine Unit, Assistance Publique Hopitaux de Paris AP HP, Hopital Necker Enfants Malades, Paris, France
    Horm Res Paediatr 73:423-9. 2010
    ..Recent data suggest that the transcription factor encoded by FOXE1 may act as a susceptibility factor for TD via variations in FOXE1 polyalanine tract length, which may modulate the risk of TD...
  48. ncbi request reprint Fetal and neonatal thyroid function in relation to maternal Graves' disease
    Michel Polak
    Department of Paediatric Endocrinology and Diabetes, and INSERM EMI 0363, Necker Enfants Malades Teaching Hospital, 149 rue de Sevres, 75015 Paris, France
    Best Pract Res Clin Endocrinol Metab 18:289-302. 2004
    ..This allowed us to accurately determine fetal thyroid status and to adapt the treatment in mothers successfully. Fetal hyperthyroidism does exist and needs an appropriate aggressive treatment...
  49. doi request reprint Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study
    Kanetee Busiah
    INSERM U845, Universite Paris Descartes, Sorbonne Paris Cité, Department of Paediatric Endocrinology, Gynaecology, and Diabetology, Necker Enfants Malades Teaching Hospital, Assistance Publique Hopitaux de Paris, IMAGINE affiliate, Paris, France
    Lancet Diabetes Endocrinol 1:199-207. 2013
    ..We compared phenotypic features and clinical outcomes according to genetic subtypes in a cohort of patients diagnosed with neonatal diabetes mellitus before age 1 year, without β-cell autoimmunity and with normal pancreas morphology...
  50. ncbi request reprint Dyrk1a haploinsufficiency induces diabetes in mice through decreased pancreatic beta cell mass
    Latif Rachdi
    Inserm U1016, Institut Cochin, Faculté de Médecine Cochin, Universite Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France
    Diabetologia 57:960-9. 2014
    ..We investigated here whether DYRK1A would be an attractive candidate for beta cell growth modulation...
  51. ncbi request reprint Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion
    Pascale de Lonlay
    Departement de Pediatrie, Hopital Necker Enfants Malades, Universite Paris Descartes, Faculte de Medecine, 149 rue de Sevres, 75743 Paris Cedex 15, France
    J Clin Endocrinol Metab 91:933-40. 2006
    ..Preoperative differential diagnosis was based on pancreatic venous sampling, a technically demanding technique...
  52. pmc Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias
    Carine Le Goff
    Department of Genetics, Universite Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale, Hopital Necker Enfants Malades, Paris, France
    Am J Hum Genet 89:7-14. 2011
    ..Although enhanced TGFβ signaling caused by FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes...
  53. ncbi request reprint Hereditary medullary thyroid carcinoma: how molecular genetics made multiple endocrine neoplasia type 2 a paediatric disease
    Gabor Szinnai
    Paediatric Endocrinology and INSERM U845, Hopital Necker Enfants Malades, Paris, France
    Endocr Dev 10:173-87. 2007
    ..In this context, MEN 2 has become a disease of the young child...
  54. ncbi request reprint Insulin cell mass is altered in Csf1op/Csf1op macrophage-deficient mice
    Linda Banaei-Bouchareb
    INSERM U457, Paris, France
    J Leukoc Biol 76:359-67. 2004
    ..The demonstration of the colony-stimulating factor 1-dependent macrophage involvement in life-time pancreas development/remodeling allows us to pinpoint the tissue-modeling and remodeling functions of this leukocyte lineage...
  55. doi request reprint Association of prenatal and postnatal exposure to lopinavir-ritonavir and adrenal dysfunction among uninfected infants of HIV-infected mothers
    Albane Simon
    Unité d Endocrinologie Pédiatrique, Hopital Necker Enfants Malades, Assistance Publique Hopitaux de Paris, Paris, France
    JAMA 306:70-8. 2011
    ..A warning about its tolerance in premature newborns was recently released, and transient elevation of 17-hydroxyprogesterone (17OHP) was noted in 2 newborns treated with lopinavir-ritonavir in France...
  56. ncbi request reprint Endocrine pancreas development in growth-retarded human fetuses
    Frédérique Beringue
    Institut National de la Santé et de la Recherche Médicale INSERM Unit 457, Robert Debre Teaching Hospital, Paris, France
    Diabetes 51:385-91. 2002
    ..Our data militate against a primary developmental pancreatic abnormality in human IUGR, leaving peripheral insulin resistance as the most likely mechanism of glucose intolerance in adults born with IUGR...
  57. doi request reprint Clinical features and treatment of pediatric somatotropinoma: case study of an aggressive tumor due to a new AIP mutation and extensive literature review
    Claire Personnier
    Paediatric Endocrinology and Gynaecology Unit, Hopital Necker Enfants Malades, Paris, France
    Horm Res Paediatr 75:392-402. 2011
    ..Pediatric somatotropinoma is uncommon but usually more aggressive than in adults, creating therapeutic challenges. No treatment guidelines are available...
  58. ncbi request reprint Neonatal Diabetes Mellitus -- genetic aspects 2004
    Michel Polak
    Paediatric Endocrinology and INSERM EMI 0363, Hopital Necker Enfants Malades, 149 rue de Sevres, Paris, France
    Pediatr Endocrinol Rev 2:193-8. 2004
    ..2 subunit of the pancreatic KATP channel involved in regulation of insulin secretion accounts for one third to a half of the PNDM cases...
  59. doi request reprint Ultrasound measurement of total body fat in obese adolescents
    Jean Claude Pineau
    UPR CNRS, Dynamique de l Evolution Humaine, Paris, France
    Ann Nutr Metab 56:36-44. 2010
    ..To compare body fat (BF) measurements obtained with a new ultrasound method with those assessed by dual-energy X-ray absorptiometry (DEXA) in obese adolescents...
  60. doi request reprint Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin
    Jacques Beltrand
    Unité INSERM U690, Hopital Robert Debre, 48 Boulevard Serurier, Paris, France
    Eur J Endocrinol 162:1083-91. 2010
    ....
  61. doi request reprint Low bone mineral density and high incidences of fractures and vitamin D deficiency in 52 pediatric cancer survivors
    Kalliopi Bilariki
    Endocrinologie Pédiatrique, Hopital Necker Enfants Malades, AP HP, Universite Paris Descartes, Paris, France
    Horm Res Paediatr 74:319-27. 2010
    ..To evaluate bone mineral density (BMD), fractures, and vitamin D deficiency in pediatric patients in complete remission of solid tumor; and to identify risk factors for these three abnormalities...
  62. doi request reprint Norethisterone-induced hepatic adenomas can cause life-threatening bleeding in girls with inherited platelet disorders
    Hélène Crosnier
    Centre de Référence des Maladies Gynécologiques Rares, Necker Enfants Malades University Hospital, AP HP, Universite Paris Descartes, Paris, France
    Fertil Steril 94:2329.e1-3. 2010
    ..To describe four cases of hepatic adenoma in adolescents and women with severe inherited bleeding disorders treated with norethisterone...
  63. ncbi request reprint Effectiveness of anastrozole and cyproterone acetate in two brothers with familial male precocious puberty
    Stéphanie Eyssette-Guerreau
    Paediatric Endocrinology Unit, Hopital Necker Enfants Malades, Paris, France
    J Pediatr Endocrinol Metab 21:995-1002. 2008
    ..The younger brother received this combination as first-line therapy. Clinical improvements included reductions in growth velocity and bone maturation rate, which should result in taller adult stature. Tolerance was good...
  64. ncbi request reprint Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
    Anne Bachelot
    Department of Endocrinology and Reproductive Medicine, Necker Hospital, AP HP, Paris V University, Paris, France
    Horm Res 67:268-76. 2007
    ..We evaluated the long-term outcome and the impact of chronic glucocorticoid replacement in these patients...
  65. ncbi request reprint Neonatal and very-early-onset diabetes mellitus
    Michel Polak
    Paediatric Endocrinology and INSERM EMI 0363, Hopital Necker Enfants Malades, Paris, France
    Semin Neonatol 9:59-65. 2004
    ..Insulin therapy is difficult to manage in the neonatal period, and in experienced hands, the insulin pump may provide a valuable tool to administer insulin...
  66. ncbi request reprint Complete congenital anterior pituitary insufficiency and syndrome of inapropriate antidiuretic hormone secretion: a rare association in children
    Mohammed Alharbi
    Pediatric Endocrinology Unit, Hopital Necker Enfants Malades, Paris, France
    J Pediatr Endocrinol Metab 19:1445-9. 2006
    ..These cases show that congenital hypopituitarism can be associated with SIADH in children later than the neonatal period, despite adequate replacement therapy...
  67. pmc Molecular spectrum of autosomal dominant hypercholesterolemia in France
    Marie Marduel
    Institut National de la Sante et de la Recherche Medicale, U781, 75015, Paris, France 2 Université Paris Descartes, 75006, Paris, France
    Hum Mutat 31:E1811-24. 2010
    ..9%, APOB 6.6%, PCSK9 0.7%. Finally, in 19.0% of the probands,no mutation was found, thus underscoring the existence of ADH mutations located in still unknown genes...
  68. ncbi request reprint Insulin resistance and the metabolic syndrome in obese French children
    Celine Druet
    INSERM Unit 690, Hopital Robert Debre, Paris, France
    Clin Endocrinol (Oxf) 64:672-8. 2006
    ..To estimate the frequency of the metabolic syndrome (MS) and of the insulin resistance syndrome (IRS) in overweight or obese French children and to determine the risk factors...
  69. ncbi request reprint Activating mutations in the ABCC8 gene in neonatal diabetes mellitus
    Andrey P Babenko
    Department of Molecular and Cellular Biology, Baylor College of Medicine, Houston, USA
    N Engl J Med 355:456-66. 2006
    ..We hypothesized that activating mutations in ABCC8, which encodes SUR1, cause neonatal diabetes...
  70. ncbi request reprint Neonatal diabetes mellitus: chromosomal analysis in transient and permanent cases
    Chantal Metz
    Department of Pediatrics, Hopital Morvan, Brest
    J Pediatr 141:483-9. 2002
    ..To describe a large cohort of patients with transient neonatal diabetes mellitus (TNDM) and permanent neonatal diabetes mellitus (PNDM), and to investigate whether chromosome 6 analysis helps to distinguish TNDM from PNDM...
  71. ncbi request reprint Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations
    Ewan R Pearson
    Institute of Biomedical and Clinical Sciences, Peninsula Medical School, Exeter, United Kingdom
    N Engl J Med 355:467-77. 2006
    ..Diabetes results from impaired insulin secretion caused by a failure of the beta-cell K(ATP) channel to close in response to increased intracellular ATP. Sulfonylureas close the K(ATP) channel by an ATP-independent route...
  72. ncbi request reprint Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients
    Martine Vaxillaire
    Centre National de la Recherche Scientifique UMR 8090, Institut of Biology and Pasteur Institute, Lille, France
    Diabetes 53:2719-22. 2004
    ..2 is associated with in utero insulin secretory insufficiency and growth retardation. In conclusion, we confirmed that Kir6.2 mutations are a common cause (53%) of PND in Caucasians...
  73. 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...
  74. ncbi request reprint Characterization of insulin secretion and resistance in type 2 diabetes of adolescents
    Celine Druet
    Institut National de la Sante et de la Recherche Medicale, Unité 690, Hopital Robert Debre, 48 Boulevard Serurier, 75019 Paris, France
    J Clin Endocrinol Metab 91:401-4. 2006
    ..Type 2 diabetes (T2D) in obese children is an emerging problem, including in Europe. Its presentation at diagnosis very often differs from that in adults...
  75. doi request reprint Mutations in the iodotyrosine deiodinase gene and hypothyroidism
    Jose C Moreno
    Department of Internal Medicine, Erasmus Medical Center, Erasmus University, Rotterdam, The Netherlands
    N Engl J Med 358:1811-8. 2008
    ..Because infants with DEHAL1 defects may have normal thyroid function at birth, they may be missed by neonatal screening programs for congenital hypothyroidism...
  76. ncbi request reprint Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infections
    Doris Taha
    Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre Jeddah, Jeddah, Saudi Arabia
    Pediatr Diabetes 9:240-4. 2008
    ..The association of permanent neonatal diabetes because of pancreatic agenesis, dysmorphism, and non-specific immunodeficiency is previously undescribed and may represent a new possibly autosomal recessive syndrome...
  77. 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...
  78. ncbi request reprint Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 cases
    Mireille Castanet
    INSERM U457, Robert Debre Teaching Hospital, Paris 75019, France
    Pediatr Res 57:908-13. 2005
    ..This finding supports both a common underlying mechanism to the various abnormalities in thyroid development and a role for genetic factors; however, our results from Pax8 analysis suggest that this gene may not be a key factor...
  79. ncbi request reprint New ABCC8 mutations in relapsing neonatal diabetes and clinical features
    Martine Vaxillaire
    Centre National de la Recherche Scientifique, UMR8090, Institute of Biology, Pasteur Institute, Lille, France
    Diabetes 56:1737-41. 2007
    ..In some familial cases, diabetes is not always present in the adult carriers of SUR1 mutations, supporting variability in their clinical expressivity that remains to be fully explained...