hrp0086p1-p106 | Bone & 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...

hrp0086p1-p122 | Bone & Mineral Metabolism P1 | ESPE2016

Bisphosphonates Therapy in Girls with Rett Syndrome and Bone Fragility

Lambert Anne-Sophie , Rothenbuhler Anya , Charles Perrine , Celestin Elisabeth , Bahi-Buisson Nadia , Linglart Agnes

Background: Rett Syndrome (RS) is a disabling condition due to mutations in MECP2. Girls affected with RS are at risk of developing osteoporosis and fractures at a young age because of their lack of mobility and though a direct effect of MECP2 on bone mineralization. In these girls, bone fragility inflicts pain and may seriously impair the quality of life.Objective: To retrospectively assess the effect of pamidronate on fractures, bone mineral density (B...

hrp0086p2-p575 | Perinatal Endocrinology P2 | ESPE2016

Persistent Hyperinsulinemic Hypoglycemic of Infancy

Fathalla Omalmir Gedafi , Doggaha Milad , Algazir Nadia , Hadeed Ibtisam , Algouil Milad , Abusrewil Suliman

Background: Persistent Hyperinsulinemic Hypoglycemic of Infancy (PHHI) is a clinically and genetically heterogeneous disorder with familial and sporadic form due to dysregulation of insulin secretion, PHHI is a severe disease that leads to brain damage. In diffuse type near total pancreatectomy has become the mainstay of surgical therapy for patients with PHHI who did not respond to medical therapy.Objective and hypotheses: To early detected cases of PHH...

hrp0086p2-p592 | Perinatal Endocrinology P2 | ESPE2016

Neonatal Hyperparathyroidism with Homozygous Missense Mutation in the CASR Gene

Alghazir Nadia , Gadaffi Omalmir , Hadeed Ibtisam , Abusrewil Suliman , Doggah Milad , Guail Milad

Background: Neonatal hyperparathyrodisim can be caused by homozygous and heterozygous inactivating mutation in the calcium-sensing receptor can cause familial hypocalciuric hypercalcaemia (FHH) or neonatal sever hyperparathyroidism (NSHPTT). NSHPT represents the most sever expression of FHH and courses as life threatening condition.Objective and hypotheses: Neonatal hyperparathyrodisim can be caused by homozygous and heterozygous inactivating mutation in...

hrp0082p1-d3-46 | Bone (1) | ESPE2014

Loss of Function CYP24A1 Mutations in Patients with Hypercalcemia and Low Pth level: an Autosomal Dominant or Recessive Trait?

Molin Arnaud , Baudouin Roseline , Coudray Nadia , Figueres Marie-Lucille , Jones Glennville , Kottler Marie-Laure

Background: Homozygous or compound heterozygous mutations of gene CYP24A1 have recently been reported to cause idiopathic infantile hypercalcemia due to increased intestinal absorption of calcium. However, an autosomal dominant transmission with partial penetrance of the trait was also suggested.Objective and hypotheses: Evaluation of the frequency of CYP24A1 mutation and evaluation of the impact of heterozygous mutation on calcium meta...

hrp0082p2-d2-274 | Adrenals & HP Axis (1) | ESPE2014

Severe 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia and Congenital Hypothyroidism Due to Thyroglobulin Mutations in a Single Family: Two Distinct Genetic Disorders with Phenotypic Variability within a Single Family

Ponmani Caroline , Atterbury Abigail , Seniappan Senthil , Schoenmakers Nadia , Nicholas Adeline K , Chatterjee Krishna , Dattani Mehul

Background: 21-Hydroxylase deficiency due to mutations in CYP21A2 represents the commonest form of congenital adrenal hyperplasia (CAH). Dyshormonogenetic congenital hypothyroidism (CH) may be due to TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5 and SLC26A4 mutations.Objective and hypotheses: We report a kindred with three siblings born to unrelated parents manifesting with two different forms...

hrp0082p2-d3-499 | Endocrine Oncology | ESPE2014

GH-Secreting Pituitary Adenoma with Gigantism: a Challenging Case

Chinoy Amish , Ismail Dunia , Kalitsi Jennifer , Gordon Nadia , Bullock Peter , Kapoor Ritika , Aylwin Simon , Buchanan Charles

Background: Pituitary gigantism is a rare condition that occurs due to excessive GH secretion during childhood, usually associated with a pituitary adenoma. We describe a case that required the full spectrum of standard therapeutic options available.Case report: A 15-year-old boy presented with a 3-year history of intractable occipital headaches and being psychologically distressed by his tall stature (203 cm). He had mild clinical features of GH excess....

hrp0084p2-285 | Diabetes | ESPE2015

Implementation of Effective Transition from Paediatric to Adult Diabetes Care: Epidemiological and Clinical Characteristics – A Pioneering Experience in North Africa

Leila Essaddam , Zinet Turki , Zohra Fitouri , Claude Ben Slama , Nadia Matoussi , Saayda Ben Becher

Background: Diabetes mellitus (DM) is a chronic metabolic disorder requiring daily care to prevent both acute and chronic complications. Healthcare providers are challenged to manage the transition of adolescents from paediatric to adult diabetes services. Until recent date, this change of the medical team was lived by teenagers as a tearing and a discontinuity of the medical care.Objective and hypotheses: While centres providing structured integrated pa...

hrp0084p3-646 | Bone | ESPE2015

Diagnosis and Management of Gorham-Stout Disease: A Protocol Proposal

Iorgi Natascia Di , Godano Elisabetta , Mascio Alberto Di , Vercellino Nadia , Napoli Flavia , Dalmonte Pietro , Maghnie Mohamad

Background: Gorham-Stout syndrome (GSD) is a rare disorder characterized by lymphangiomatosis, osteolysis and potentially lethal in the presence of chilothorax.Objective and hypotheses: As the management of GSD is not univocal and outcomes are unpredictable we build a multifaced protocol in order to study its natural history, biomarkers of bone disease and to treat uniformly patients.Method: Seven patients (five males, two females,...

hrp0084p3-1213 | Thyroid | ESPE2015

Hyperthyroidism in Children and Adolescents: Causes, When and How to Treat – A Tunisian Experience

Leila Essaddam , Wafa Kallali , Rahma Guedri , Zohra Fitouri , Nadia Matoussi , Saayda Ben Becher

Background: Hyperthyroidism is considered to be rare in children; its clinical profile is different and the most cause is Grave’s disease (GD).Objective and hypotheses: To evaluate clinical features and evolution of childhood hyperthyroidism.Method: Longitudinal retrospective study of children diagnosed with hyperthyroidism in an endocrinology unit in a children hospital in Tunisia.Results: Seven cases o...