hrp0086p2-p267 | Diabetes P2 | ESPE2016

NBAS Mutations, a New Monogenic Cause of DISOPHAL, a New Syndrome with Type 1 Diabetes (T1D)

Rothenbuhler Anya

Background: While non-autoimmune T1D is rare in late childhood, few monogenic causes have yet been identified.Objective: i) to identify the genetic basis of the yet unreported disease phenotype associating late childhood antibody-negative T1D, short stature, optic atrophy (OA), Pelger-Huët anomaly (PHA) of leukocytes and recurrent liver cytolysis: the ‘DISOPHAL’ syndrome; ii) to attract comparable cases for further genetic investigation.</...

hrp0086p1-p42 | Adrenal P1 | ESPE2016

Acute Lysis of a Giant Pediatric Adrenal Cortical Carcinoma Following One Dose of op’DDD

Motte Emmanuelle , Rothenbuhler Anya , Durand Philippe , Bougneres Pierre

Background: op’DDD can be used in adrenal cortical carcinoma (ACC) i) when surgery is impossible ii) or as an adjunct to surgery when local extension or metastases are present.Objectives and hypotheses: To report the unexpected spectacular effects of op’DDD in an unoperable ACC.Patient and results: A 3-year-old black African girl presented in poor shape with a 2-year history of pubic hair, clitoromegaly, abdominal distens...

hrp0086p2-p61 | Adrenal P2 | ESPE2016

Severe Neonatal Cushing Syndrome with Multi-Organ McCune Albright Manifestations

Sophie Lambert Anne , Rothenbuhler Anya , Durand Philippe , Bougneres Pierre

Background: Reports of Cushing syndrome during the first month of life are rare. Mortality is high, despite medical (metyrapone) or surgical (adrenalectomy) treatment.Objectives: To report a new neonatal case of Cushing due to McCuneAlbright syndrome (MAS).Patient and results: Although a healthy baby at age 10 days, a newborn girl presented with sudden manifestations within the following 2 weeks: facial and truncal plethora, severe...

hrp0086p2-p151 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Progressive Development of PTH Resistance in Patients with Maternal GNAS Inactivating Mutations

Usardi Alessia , Mamoune Asmaa , Nattes Elodie , Rothenbuhler Anya , Linglart Agnes

Background: Pseudohypoparathyroidism (PHP) is a group of disorders characterized by end-organ resistance to the parathyroid hormone (PTH). PHP type 1A is caused by mutations in GNAS exon 1 through 13 with multihormone resistance (PTH, TSH and gonadotropins), Albright’s hereditary osteodystrophy, and obesity. However, patients often do not present with elevated levels of PTH until after the first years of life.O...

hrp0082p1-d3-14 | Adrenals &amp; HP Axis (1) | ESPE2014

Clinical, Biological and Genetic Characteristics of 48 Pediatric Patients with Micronodular Adrenal Hyperplasia (MAH)

Rothenbuhler Anya , Gourgari Evgenia , Lodish Maya , Stratakis Constantine

Background: Micronodular adrenal hyperplasia (MAH) is a rare disease.Objective: Describe the clinical, biological and genetic characteristics of micronodular adrenal hyperplasia (MAH) in children.Method: Retrospective study based on medical records (from the NIH and Bicêtre Hospital) of 47 pediatric patients (age <18 years at first signs of disease) with ACTH-independent Cushing syndrome (AICS) due to MAH proven histologic...

hrp0092p1-18 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Nephrocalcinosis in Children with X-Linked Hypophosphatemia: Prevalence and Risks Factors

de Truchis Camille , Zhukouskaya Volha , Auger Martin , Rothenbuhler Anya , Linglart Agnès , Grapin Mathilde

X-linked hypophosphatemia (XLH) is diagnosed in children with clinical and or radiological signs of rickets, impaired growth velocity, low serum phosphate levels associated with renal phosphate wasting, in the absence of vitamin D or calcium deficiency. Conventional treatment is made of phosphate and active vitamin D. However, nephrocalcinosis has been identified as a complication of this therapy. Its prevalence is about 25-40% in adult XLH treated patients. It was never c...

hrp0089p2-p043 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

Metabolic Syndrome in Children with X-linked Hypophosphatemic Rickets (XLHR)

Lambert Anne-Sophie , Saadeddine Sanaa , Rothenbuhler Anya , Ussardi Alessia , Trabado Severine , Linglart Agnes

Introduction: X-linked hypophosphatemic rickets (XLHR) is due to mutations in the PHEX gene inducing increased levels of fibroblast growth factor 23 (FGF23), phosphate wasting, hence rickets. FGF23 is suspected to be as an important metabolic regulator of glucose and lipid metabolism.Objective: To describe the metabolic profile (body mass index, blood pressure, glucid and lipid profile) in patients with XLHR and evaluate the correlation between FGF23 lev...

hrp0089p2-p044 | Bone, Growth Plate &amp; Mineral Metabolism P2 | ESPE2018

High Incidence of Cranial Synostosis and Chiari Malformation in Children with X-linked Hypophosphatemic Rickets

Rothenbuhler Anya , Bacchetta Justine , Fadel Nathalie , Lambert Anne Sophie , Adamsbaum Catherine , Linglart Agnes , Rocco Federicco Di

Background: X-linked hypophosphatemic rickets (XLH) represents the most common form of hypophosphatemia and leads to vitamin D resistant rickets in children. Even though cranial vault and craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation- have been observed in XLH patients their actual incidence is not established.Aim: Describe and analyze the incidence of cranial and...

hrp0086fc9.2 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

NBAS Mutations, a New Monogenic Cause of DISOPHAL, a New Syndrome with Type 1 Diabetes (T1D)

Rothenbuhler Anya , Maluenda Jerome , Aumont Cedric , Picard Veronique , Bougneres Pierre , Melki Judith

Background: While non-autoimmune T1D is rare in late childhood, few monogenic causes have yet been identified.Objective: 1) to identify the genetic basis of the yet unreported disease phenotype associating late childhood antibody-negative T1D, short stature, optic atrophy (OA), Pelger-Huët anomaly (PHA) of leukocytes and recurrent liver cytolysis: the “DISOPHAL” syndrome; 2) to attract comparable cases for further genetic investigation.</p...

hrp0086p1-p106 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Bone Mineral Density, Pubertal Status and Ability to Walk are Associated to Fracture Incidence in Patients with Rett Syndrome

Rothenbuhler Anya , Lahlou Najiba , Bienvenu Thierry , Buisson Nadia Bahi , Linglart Agnes

Background: Rett (RTT) syndrome is a neurodevelopmental disorder related to mutations in the MECP2 gene that affects girls almost exclusively. In Rett syndrome patients have a high incidence of fractures that can occur at a young age.Objective and hypotheses: One of the objectives of this study was to identify clinical, radiographic and biological parameters associated to fracture incidence.Method: 89 RTT patients bearing a MEC...