Genomes and Genes
- [Hypothyroidism in child]Michel Polak
Service d endocrinologie pédiatrique, INSERM EMI 363, Hopital Necker Enfants Malades, Paris
Rev Prat 55:2173-80. 2005
- Therapeutic approach of fetal thyroid disordersMichel 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...
- 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 mellitusAmelie 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...
- Fetal thyroïdologyMichel 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. ..
- Childhood craniopharyngioma: hypothalamus-sparing surgery decreases the risk of obesityE 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...
- Efficacy of vinblastine in central nervous system Langerhans cell histiocytosis: a nationwide retrospective studySophie 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...
- Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentrationPascal 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...
- Neonatal diabetes mellitus: a disease linked to multiple mechanismsMichel 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...
- Linkage and mutational analysis of familial thyroid dysgenesis demonstrate genetic heterogeneity implicating novel genesMireille 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...
- Thyroid function in fetuses with down syndromeDominique 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...
- Polymorphic length of FOXE1 alanine stretch: evidence for genetic susceptibility to thyroid dysgenesisAurore 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...
- 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 GroupMichel 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...
- Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one caseAurore 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...
- Management of neonates born to women with Graves' disease: a cohort studyAlix 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...
- Monocentric study of 112 consecutive patients with childhood onset GH deficiency around and after transitionCarine 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....
- Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndromeAlaa 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...
- An inactivating mutation within the first extracellular loop of the thyrotropin receptor impedes normal posttranslational maturation of the extracellular domainSylvia 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....
- Neonatal hyperglycaemia and abnormal development of the pancreasIsabelle 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...
- Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetusGabor 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)...
- Dyrk1a haploinsufficiency induces diabetes in mice through decreased pancreatic beta cell massLatif 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...
- Hes1 is required for appropriate morphogenesis and differentiation during mouse thyroid gland developmentAurore Carre
INSERM U845, Universite Paris Descartes, Paris, France
PLoS ONE 6:e16752. 2011....
- European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidismJuliane 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)...
- Clinical description of infants with congenital hypothyroidism and iodide organification defectsPaolo 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....
- PAX8, TITF1, and FOXE1 gene expression patterns during human development: new insights into human thyroid development and thyroid dysgenesis-associated malformationsSylvia 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...
- 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 ITDGabor 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...
- Diabetes in very young children and mutations in the insulin-secreting cell potassium channel genes: therapeutic consequencesIsabelle 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....
- Thyroid disorders during pregnancy: impact on the fetusMichel 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...
- New cases of isolated congenital central hypothyroidism due to homozygous thyrotropin beta gene mutations: a pitfall to neonatal screeningHelton 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...
- DYRK1A BAC transgenic mouse: a new model of thyroid dysgenesis in Down syndromeDulanjalee Kariyawasam
Inserm U1016 D K, L R, A C, M H, R S, M P, 75014 Paris France Imagine Institute D K, A C, M P, Paris, France Pediatric Endocrinology, Gynaecology and Diabetology Unit D K, M P, Hôpital Universitaire Necker Enfants Malades, Assistance Publique Hopitaux de Paris, 75015 Paris, France Diabetes and Obesity Research Laboratory M M, Institut d Investigacions Biomediques August Pi i Sunyer, 08036 Barcelona, Spain Unité de Biologie Fonctionnelle et Adaptative N J, J M D, Centre National de Recherche Scientifique 4413, Universite Paris Diderot, Sorbonne Paris Cité, 75013 Paris, France and Université Paris Descartes Sorbonne Paris Cité M P, 75006 Paris, France
Endocrinology 156:1171-80. 2015..The young adult thyroid phenotype is probably a result of embryogenetic impairment. The Dyrk1A(+/++) mouse can be considered a suitable study model for thyroid dysgenesis in DS...
- A novel FOXE1 mutation (R73S) in Bamforth-Lazarus syndrome causing increased thyroidal gene expressionAurore Carre
1 Research Center for Growth and Signaling INSERM U845, Universite Paris Descartes, Sorbonne Paris Cité, Paris, France
Thyroid 24:649-54. 2014..Here, our objective was to evaluate potential functional consequences of a FOXE1 mutation in a patient with a similar clinical phenotype...
- Thyroid function during pregnancy in women with past Graves' diseaseDominique 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...
- Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 geneDomitille 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...
- Congenital hyperthyroidism: the fetus as a patientMichel 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!..
- Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasiaPaolo 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...
- Efficacy and safety of growth hormone treatment in children with hypochondroplasia: comparison with an historical cohortGraziella Pinto
Pediatric Endocrinology, Gynecology and Diabetes, Centre des Maladies Endocriniennes Rares de la Croissance, Hôpital Universitaire Necker Enfants Malades, Paris, France
Horm Res Paediatr 82:355-63. 2014..The aims of the study are to evaluate efficacy and safety of recombinant human growth hormone (r-hGH) therapy in HCH children, when compared with a historical cohort of untreated HCH children...
- What's new in metabolic and genetic hypoglycaemias: diagnosis and managementVassili 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...
- Coexistence in the same family of both focal and diffuse forms of hyperinsulinismVassili Valayannopoulos
Department of Metabolic Disorders, Hopital Necker Enfants Malades, Paris, France
Diabetes Care 30:1590-2. 2007
- Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndromeLoic 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...
- Multiplex Ligation-dependent Probe Amplification improves the detection rate of NKX2.1 mutations in patients affected by brain-lung-thyroid syndromeRaphaël 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...
- High prevalence of hirsutism and menstrual disorders in obese adolescent girls and adolescent girls with type 1 diabetes mellitus despite different hormonal profilesDinane 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)...
- Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiencyZeina 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)...
- Phenotyping and genetic studies of 357 consecutive patients presenting with premature ovarian failureAnne 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...
- Molecular insights into the possible role of kir4.1 and kir5.1 in thyroid hormone biosynthesisHelton Estrela Ramos
Inserm U1016, Universite Paris Descartes, Sorbonne Paris Cité, Paris, France
Horm Res Paediatr 83:141-7. 2015..Thyroid morphogenesis is a complex process. Inwardly rectifying potassium (Kir) genes play a role in hormone release, cell excitability, pH and K(+) homeostasis in many tissues...
- Natural History and Management of Congenital Hypothyroidism with in situ Thyroid GlandMireille Castanet
Service d endocrinologie, gynécologie et diabétologie pédiatrique, Hôpital Universitaire Necker Enfants Malades, AP HP, Paris, France
Horm Res Paediatr 83:102-10. 2015..Mechanisms often remain unknown. To report the incidence of CH with in situ thyroid gland (ISTG) and describe the natural history of the disease without known etiology...
- Molecular mechanisms of thyroid dysgenesisMichel 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...
- Water and electrolyte disorders at long-term post-treatment follow-up in paediatric patients with suprasellar tumours include unexpected persistent cerebral salt-wasting syndromeLaura González Briceño
Service d endocrinologie, gynécologie et diabétologie pédiatrique, Hopital Necker Enfants Malades, Paris, France
Horm Res Paediatr 82:364-71. 2014..Postsurgery diabetes insipidus (DI) may be transient or permanent, the syndrome of inappropriate antidiuretic hormone secretion (SIADH) and cerebral salt-wasting syndrome (CSWS) are usually transient...
- Human pancreas endocrine cell populations and activating ABCC8 mutationsKanetee Busiah
Inserm U1016, Universite Paris Descartes, Sorbonne Paris Cité UPD SPC, Department of Paediatric Endocrinology, Gynaecology, and Diabetology, Necker Enfants Malades Teaching Hospital NEMTH, Assistance Publique Hopitaux de Paris APHP, IMAGINE affiliate, Paris, France
Horm Res Paediatr 82:59-64. 2014..We investigated whether activating ABCC8 mutations affect endocrine pancreas development...
- European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidismJuliane 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)...
- Spectrum of Human Foxe1/TTF2 MutationsMireille 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...
- Familial forms of thyroid dysgenesisMireille 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...
- Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal careHelton 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...
- Epidemiology of thyroid dysgenesis: the familial componentMireille 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...
- Hypothalamic lipoma associated with severe obesity. Report of 2 casesStephanie 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...
- A novel loss-of-function mutation in TTF-2 is associated with congenital hypothyroidism, thyroid agenesis and cleft palateMireille 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...
- Down syndrome and nonautoimmune hypothyroidisms in neonates and infantsDulanjalee Kariyawasam
Inserm U1016, Hôpital Universitaire Necker Enfants Malades, AP HP, Paris, France
Horm Res Paediatr 83:126-31. 2015..Treatment is prescribed according to the type of thyroidal abnormality. © 2015 S. Karger AG, Basel. ..
- RFX6 regulates insulin secretion by modulating Ca2+ homeostasis in human β cellsVikash Chandra
INSERM, U1016, Institut Cochin, Faculte de Medecine, Universite Paris Descartes, Sorbonne Paris Cité, Paris 75014, France
Cell Rep 9:2206-18. 2014..Our data therefore provide insights for understanding certain forms of neonatal diabetes. ..
- Fetal and neonatal thyroid function in relation to maternal Graves' diseaseMichel 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...
- Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected]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...
- Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretionPascale 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...
- Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasiasCarine 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...
- Insulin cell mass is altered in Csf1op/Csf1op macrophage-deficient miceLinda 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...
- Association of prenatal and postnatal exposure to lopinavir-ritonavir and adrenal dysfunction among uninfected infants of HIV-infected mothersAlbane 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...
- Hereditary medullary thyroid carcinoma: how molecular genetics made multiple endocrine neoplasia type 2 a paediatric diseaseGabor 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...
- Endocrine pancreas development in growth-retarded human fetusesFrédérique 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...
- Clinical features and treatment of pediatric somatotropinoma: case study of an aggressive tumor due to a new AIP mutation and extensive literature reviewClaire 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...
- Neonatal Diabetes Mellitus -- genetic aspects 2004Michel 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...
- Effectiveness of anastrozole and cyproterone acetate in two brothers with familial male precocious pubertyStéphanie 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...
- Ultrasound measurement of total body fat in obese adolescentsJean 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...
- Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological originJacques Beltrand
Unité INSERM U690, Hopital Robert Debre, 48 Boulevard Serurier, Paris, France
Eur J Endocrinol 162:1083-91. 2010....
- Low bone mineral density and high incidences of fractures and vitamin D deficiency in 52 pediatric cancer survivorsKalliopi 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...
- Norethisterone-induced hepatic adenomas can cause life-threatening bleeding in girls with inherited platelet disordersHélène 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...
- Neonatal and very-early-onset diabetes mellitusMichel 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...
- Molecular spectrum of autosomal dominant hypercholesterolemia in FranceMarie 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...
- Complete congenital anterior pituitary insufficiency and syndrome of inapropriate antidiuretic hormone secretion: a rare association in childrenMohammed 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...
- Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiencyAnne 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...
- Insulin resistance and the metabolic syndrome in obese French childrenCeline 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...
- Neonatal diabetes mellitus: chromosomal analysis in transient and permanent casesChantal 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...
- Activating mutations in the ABCC8 gene in neonatal diabetes mellitusAndrey 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...
- Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutationsEwan 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...
- New ABCC8 mutations in relapsing neonatal diabetes and clinical featuresMartine 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...
- Characterization of insulin secretion and resistance in type 2 diabetes of adolescentsCeline 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...
- Management of Graves' disease during pregnancy: the key role of fetal thyroid gland monitoringDominique 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...
- Thyroid hemiagenesis is a rare variant of thyroid dysgenesis with a familial component but without Pax8 mutations in a cohort of 22 casesMireille 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...
- Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patientsMartine 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...
- Mutations in the iodotyrosine deiodinase gene and hypothyroidismJose 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...
- Neonatal diabetes mellitus because of pancreatic agenesis with dysmorphic features and recurrent bacterial infectionsDoris 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...
- Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidismJuliane 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...