Papers by Anya Rothenbuhler
58th Annual ESPE Meeting (ESPE 2019), Aug 22, 2019
57th Annual ESPE, Aug 28, 2018
This article has been accepted for publication and undergone full peer review but has not been th... more This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record. Please cite this article as
Annales D Endocrinologie, Sep 1, 2017
du 1er sous-domaine, pas de méthylation du 2 e sous-domaine) absent chez les témoins, les AD+ et ... more du 1er sous-domaine, pas de méthylation du 2 e sous-domaine) absent chez les témoins, les AD+ et les sporPHP1B. Conclusion Nous avons mieux caractérisé la DMR GNAS-AS2 et identifié un sous-groupe de patients PHP1B (AD−) qui a un profil spécifique de méthylation de la DMR GNAS-AS2. Les AD− ont une LOI restreinte aux DMRs GNAS-A/B et GNAS-AS2. L'identification d'un profil spécifique de méthylation sur AS2 est en faveur d'une origine moléculaire commune pour ces patients. Déclaration de liens d'intérêts Les auteurs n'ont pas précisé leurs éventuels liens d'intérêts.
55th ESPE Meeting, Aug 19, 2016
55th ESPE Meeting, Aug 19, 2016
55th ESPE Meeting, Aug 19, 2016
Archives De Pediatrie, Jun 1, 2010
Conclusion : La DAC reste une pathologie grave, une prise en charge rapide est nécessaire afi n d... more Conclusion : La DAC reste une pathologie grave, une prise en charge rapide est nécessaire afi n d'éviter les complications. La prévention et l'éducation restent un défi dans une jeune unité de diabétologie.
Annales D Endocrinologie, Sep 1, 2013
Contexte.-Un pour cent des nouveau-nés de mères Basedowiennes présentent une hyperthyroïdie par p... more Contexte.-Un pour cent des nouveau-nés de mères Basedowiennes présentent une hyperthyroïdie par passage transplacentaire d'anticorps anti-récepteur de la TSH (TRAb). Les recommandations récentes pour le suivi de la maladie de Basedow pendant la grossesse sont basées sur des études utilisant des dosages de TRAb de première génération.
Annales D Endocrinologie, Sep 1, 2013
Contexte.-CYP24A1 code pour la 24 hydroxylase, enzyme responsable de l'inactivation de la 1,25(OH... more Contexte.-CYP24A1 code pour la 24 hydroxylase, enzyme responsable de l'inactivation de la 1,25(OH) 2 D. Des mutations perte de fonction ont été décrites chez des enfants présentant une hypercalcémie idiopathique infantile (HII) après l'administration de vitamine D, établissant le concept d'hypersensibilité à la vitamine D. Objectif.-L'objectif de notre travail a été de définir un profil clinique et biologique permettant de cibler la population susceptible de bénéficier d'un génotypage CYP24A1. Méthode.-Nous avons étudié une cohorte de 100 patients cas index non apparentés (12 cas familiaux, 88 sporadiques) parmi lesquels 60 enfants et 40 adultes ; 65 femmes, 35 hommes adressés pour hypercalcémie idiopathique. Résultats.-Vingt-et-un patients (21 %) présentent une mutation de CYP24A1 soit homozygote (n = 4) soit hétérozygote composite (n = 10) soit hétérozygote (n = 7). Le diagnostic a été fait chez les enfants avant l'âge de 1 an [naissance-8 mois], devant une hypercalcémie (>3 mmol) et un taux effondré de PTH. Tous avaient reçu une supplémentation en vitamine D systématique et tous présentaient des lésions de néphrocalcinose. Chez les adultes l'hypercalcémie est plus fluctuante. Deux patients avaient une insuffisance rénale associée à des lésions de néphrocalcinose et un avait des lithiases rénales associées à une hypercalciurie. Tous les patients avec mutation ont une PTH basse voire effondrée. Ainsi, si on limite l'étude génétique aux sujets avec une PTH < 14 pg/mL, la fréquence des mutations augmente à 46 %. Conclusion.-Chez les patients adultes, des lésions de CYP24 doivent être recherchées devant une hypercalciurie et/ou une néphrocalcinose associée à une PTH basse.
Annales D Endocrinologie, May 1, 2015
Hypoparathyroidism in children is a rare disease most ften caused by defects in genes involved in... more Hypoparathyroidism in children is a rare disease most ften caused by defects in genes involved in parathyroid land development (TBX1/22q11.2 del, GCMB) or function calcium-sensing receptor CASR, GNA11 and PTH), or the autommunepolyglandular syndrome type 1 (AIRE)[1,2]. About 90% f etiologies in sporadic cases and 30% in familial cases are till unknown. Forty years after the first synthesis of human arathyroid hormone, and over ten years after the FDA approved ecombinant PTH for treating osteoporosis[3], hypoparathyoidism remains one of the rare endocrine deficits not treated y replacing the missing hormone. To this day, hypoparathyoidism both in adults and children is usually treated with ral vitamin D analogues and calcium supplements, forcing ntestinal calcium absorption. Even though this treatment abolshes symptoms of hypocalcaemia in most patients, it increases he filtered load of calcium in absence of PTH-driven calium reabsorption, and often leads to nephrocalcinosis, renal tones and chronic kidney disease [4]. Physicians face a herapeutic challenge balancing between the risks and disomfort of chronic hypocalcaemia and long-term damages. nother physiological role of parathyroid hormone, which is ot replaced under conventional treatment, is the reduction f serum phosphate levels through proximal renal excretion, hus preventing calcium-phosphate precipitation within tisues like kidneys and brain. Since 1996 clinical trials show he benefits of recombinant human PTH (rhPTH) in treatng hypoparathyroidism in adults [5–10]. The first trials in hildren by Winer et al. in 12 children with hypoparathyoidism aged 5–14 years found that twice-daily rhPTH injections ere more efficient than calcitriol and calcium supplements or
Archives De Pediatrie, May 1, 2017
Hypophosphatasia (HPP) when diagnosed at a young age may induce premature fusion of one or severa... more Hypophosphatasia (HPP) when diagnosed at a young age may induce premature fusion of one or several cranial sutures, resulting in a craniocerebral disproportion. The main forms of craniosynostosis associated with HPP are loss of the sagittal suture (scaphocephaly), alone or associated with loss of the coronal sutures (oxycephaly) or associated with loss of the coronal and lambdoid sutures (pansynostosis). Craniosynostosis is accompanied by putatively functional consequences. Diagnosis must thus be early and lead to management by a specialized team.
Neurochirurgie, Nov 1, 2019
Endocrine connections, Feb 1, 2020
Background/aim: X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate ... more Background/aim: X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate levels. Scientific evidence points to a link between hypophosphatemia and obesity in general population. The aim of our longitudinal observational study was to investigate the prevalence of obesity and associated factors in a large cohort of children with XLH. Patients/methods: We studied 172 XLH-children 5-20 years of age (113 girls/59 boys). Anthropometric parameters (weight, height, and BMI) were collected at birth and during follow-up at mean ages of 5.3, 8.2, 11.3, and 15.9 years (groups 1, 2, 3, and 4, respectively). In each group, subjects were classified based on International Obesity Taskforce (IOTF) cut off values of BMI for age and sex as overweight or obese (IOTF 25-30 or ≥30 kg/m 2 , respectively). Results: In each age-group, almost 1/3 of XLH-patients were classified as overweight or obese (29.4, 28.7, 27.5, and 36.7% in groups 1, 2, 3, and 4, respectively). Children without a XLH-family history had higher BMI-IOTF at every point of follow-up, compared to those with positive XLH-family history. Similarly, higher BMI-IOTF was significantly associated with treatment duration (23.3 ± 4.4 vs 23.8 ± 3.8 vs 25.2 ± 4.5 kg/m 2 , for subjects with treatment duration of <5, 5-10 and >10 years, respectively, P for trend = 0.025). Multiple regression analysis confirmed an association of treatment duration and lack of XLHfamily history with higher BMI-IOTF. Conclusion: One out of three of XLH-children have phenotypically unfavourable metabolic profile expressed as increased prevalence of overweight or obesity in comparison to general population. Both the lack of XLH family history and the duration of treatment increase the risk of higher BMI-IOTF. BMI should be carefully monitored in children, and later in adults, with XLH.
European Journal of Endocrinology, 2021
Objective Pseudohypoparathyroidism and related disorders belong to a group of heterogeneous rare ... more Objective Pseudohypoparathyroidism and related disorders belong to a group of heterogeneous rare diseases that share an impaired signaling downstream of Gsα-protein-coupled receptors. Affected patients may present with various combination of symptoms including resistance to PTH and/or to other hormones, ectopic ossifications, brachydactyly type E, early onset obesity, short stature and cognitive difficulties. Several years ago we proposed a novel nomenclature under the term of inactivating PTH/PTHrP signaling disorders (iPPSD). It is now of utmost importance to validate these criteria and/or improve the basis of this new classification. Design Retrospective study of a large international series of 459 probands and 85 relatives molecularly characterized. Methods Information on major and minor criteria associated with iPPSD and genetic results were retrieved from patient files. We compared the presence of each criteria according to the iPPSD subtype, age and gender of the patients. Re...
Annales d'Endocrinologie, 2021
Objectif L’hypophosphatemie genetique lie a l’X (XLH), due aux mutations du gene PHEX, s’accompag... more Objectif L’hypophosphatemie genetique lie a l’X (XLH), due aux mutations du gene PHEX, s’accompagne d’une production excessive de Fibroblast Growth Factor 23 (FGF-23), ayant pour consequence une fuite urinaire de phosphate avec des anomalies de la mineralisation osseuse. Les etudes epidemiologiques suggerent un lien entre FGF-23, obesite et syndrome metabolique. Toutefois, le retentissement metabolique du XLH n’a pas ete evalue. Methodes Etude prospective (CNIL2171036v0) comparant la prevalence du surpoids et de l’obesite chez des patients XLH adultes aux donnees de la population francaise. La tolerance au glucose et l’insulinosecretion ont ete evaluees par une hyperglycemie provoquee par voie orale (HGPO) et comparees aux resultats obtenus chez des temoins apparies sur l’âge, le sexe et l’IMC. Resultats Cent treize patients XLH (85F/28H), âge median 35,5 ans, porteurs de mutation PHEX, ont ete evalues. Leur IMC median etait de 25 kg/m2. Trente-huit (35,5 %, 29F) patients etaient en surpoids et 22 (20,5 %, 16F) patients etaient obeses. La prevalence de l’obesite en comparaison a la population generale etait plus importante chez les patients XLH (+ 20 %, 95 % CI [+6; + 33], p = 0,013), en particulier chez les sujets jeunes. Quatre (3,8 %) patients avaient un diabete et 10 (10,3 %) etaient classes comme intolerants au glucose lors de l’HGPO. Les aires sous la courbe de glycemie et d’insulinemie de 82 patients XLH et de 82 temoins etaient comparables. Discussion Les patients XLH ont un risque eleve de surcharge ponderale par rapport a la population francaise, sans retentissement sur le metabolisme glucidique.
Endocrine Abstracts, 2019
X‐linked hypophosphatemia (XLH) is characterized by increased activity of circulating FGF23 resul... more X‐linked hypophosphatemia (XLH) is characterized by increased activity of circulating FGF23 resulting in renal phosphate wasting and abnormal bone mineralization. Hyperparathyroidism may develop in XLH patients; however, its prevalence, pathogenesis, and clinical presentation are not documented. This observational study (CNIL 171036 v 0) recruited XLH adult patients in a single tertiary referral center. Each patient was explored in standardized conditions and compared with two healthy volunteers, matched for sex, age, and 25‐OH vitamin D concentrations. The primary endpoint was the proportion of patients with hyperparathyroidism. The secondary endpoints were the factors influencing serum parathyroid hormone (PTH) concentrations and the prevalence of hypercalcemic hyperparathyroidism. Sixty‐eight patients (51 women, 17 men) were enrolled and matched with 136 healthy volunteers. Patients had higher PTH concentrations compared with healthy controls (53.5 ng/L, interquartile range [IQR] 36.7–72.7 versus 36.0 ng/L, IQR 27.7–44.0, p &amp;lt; .0001). Hyperparathyroidism was observed in 17 patients of 68 (25%). In patients, a positive relationship between PTH and calcium concentrations and a negative relationship between PTH and phosphate concentrations were observed. Seven (10%) patients (3 premenopausal women, 1 postmenopausal woman, and 3 men) were diagnosed with hypercalcemic hyperparathyroidism. All underwent parathyroid surgery, with consecutive normalization of calcium and PTH concentrations. Hyperparathyroidism is a frequent complication in XLH adult patients. Disruption of the physiological regulation of PTH secretion contributes to parathyroid disease. Early‐onset hypercalcemic hyperparathyroidism can be effectively and safely cured by surgical resection. © 2020 American Society for Bone and Mineral Research.
Annales d'Endocrinologie, 2017
du 1er sous-domaine, pas de méthylation du 2 e sous-domaine) absent chez les témoins, les AD+ et ... more du 1er sous-domaine, pas de méthylation du 2 e sous-domaine) absent chez les témoins, les AD+ et les sporPHP1B. Conclusion Nous avons mieux caractérisé la DMR GNAS-AS2 et identifié un sous-groupe de patients PHP1B (AD−) qui a un profil spécifique de méthylation de la DMR GNAS-AS2. Les AD− ont une LOI restreinte aux DMRs GNAS-A/B et GNAS-AS2. L'identification d'un profil spécifique de méthylation sur AS2 est en faveur d'une origine moléculaire commune pour ces patients. Déclaration de liens d'intérêts Les auteurs n'ont pas précisé leurs éventuels liens d'intérêts.
The Endocrine Society's 93rd Annual Meeting & Expo, June 4–7, 2011 - Boston, 2011
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Papers by Anya Rothenbuhler