hrp0089p3-p055 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

The British OsteoNEcrosis Study: A Multi-centre Prospective Study

Amin Nadia , James Beki , Feltbower Richard , Mushtaq Talat , Kinsey Sally

Introduction: Osteonecrosis can be a debilitating consequence of treatment for acute lymphoblastic leukaemia (ALL), most commonly affecting patients aged between 10 and 20 years at diagnosis of malignancy. Patients may have asymptomatic lesions that spontaneously regress, and little is known about the natural history of lesions. There is also limited understanding of the relationship between osteonecrosis and other markers of bone health.Aims: The aims o...

hrp0082p3-d3-918 | Pituitary (1) | ESPE2014

MRI in Children with GH Deficiency

Baz Ouidad , Semrouni Mourad , Sakher Samia , Chouikrat Nadia , Benallegue Mourad

Background: Magnetic resonance imaging (MRI) is advisable in all patients with GH deficiency (GHD). MRI pituitary morphology has important clinical implications, both in terms of diagnostic accuracy and long-term prognosis; indeed, when MRI findings are appropriately interpreted, they clearly represent a gold standard to investigate the etiology of GHD.Objective and hypotheses: To evaluate frequency and type of MRI anomalies in children with GHD, after d...

hrp0084p2-284 | Diabetes | ESPE2015

In-Patient Care for Children with Type 1 Diabetes – A Regional Audit in the Yorkshire and Humber Region in the North of England

Uday Suma , Amin Nadia , Campbell Fiona , Yong James

Introduction: An important part of diabetes management is maintaining high standards of in-patient care. A previous audit in the South of England demonstrated difficulties consistently achieving standards identified as good practice.Objectives: To identify variations in in-patient care provided to children with type 1 diabetes across the Yorkshire and Humber region.Methods: The audit was conducted against in-patient care standards ...

hrp0095p1-590 | Thyroid | ESPE2022

Immunoglobulin Superfamily 1 (IGSF1) Deficiency: A Rare Cause of Isolated Congenital Hypothyroidism in Two Siblings

MacGloin Helen , Bhushan Arya Ved , Schoenmakers Nadia , Buchanan Charles

Introduction: The Newborn Screening Programme (NBS) enables earlier diagnosis of congenital hypothyroidism (CH). However, cases of central congenital hypothyroidism (CCH) are missed in countries which use thyroid stimulating hormone (TSH) based screening strategy. Understanding the pathogenic aetiology of CCH is particularly important because many patients have additional pituitary hormone deficiencies. New genes have been implicated in CCH, including the rece...

hrp0095p2-2 | Adrenals and HPA Axis | ESPE2022

Retrospective cross-sectional study reviewing local practice in assessment of adrenal axis at a tertiary children’s hospital

Hester Holly , Hachemi Soraya , Amin Nadia , Alvi Sabah

Introduction: There is considerable variation in practice when assessing adrenal function in adrenal insufficiency; duration of glucocorticoid defined to confer risk, early morning cortisol assay (EMC), Synacthen test (ST) - both low dose (LDST) (1microgram) or standard dose (SDST) (36microgram/kg [maximum 250micrograms]) and symptomatology. At our tertiary children’s hospital, even between departments, there is variation in those identified as being at ...

hrp0092fc11.5 | Pituitary, Neuroendocrinology and Puberty Session 2 | ESPE2019

Survival, Endocrine Disorders and Quality of Life in 135 Children with Craniopharyngioma After Surgical or Combined Treatment

Mazerkina Nadia , Savateev Alexandre , Gorelyshev Sergey , Trunin Yuri , Golanov Andrey , Kutin Maxim , Kalinin Pavel , Konovalov Alexandre

Patients and Methods: We analyzed 135 primary operated craniopharyngioma (CP) patients and 75 CP patients, received radiotherapy/radiosurgery in 2005-2012. Neurologic, endocrine, visual functions, quality of life (QofL) and neuroimaging data before and after treatment were assessed.Patients were divided in 2 groups according to CP location: 48,5% endosellar (ESCP), and 51,5% suprasellar (SSCP). Surgical treatment included tumor e...

hrp0092rfc5.5 | Thyroid | ESPE2019

A Novel Mutation in the Thyroglobulin Gene Leading to Neonatal Goiter and Congenital Hypothyroidism in an Eritrean Infant

Stern Eve , Kassif Eran , Schoenmakers Nadia , Gruber Noah , Pinhas-Hamiel Orit , Yeshayahu Yonatan

Background: Congenital hypothyroidism is a common condition with reported incidence between 1/2000 – 1/4000 live births. In approximately 85% of cases this is sporadic due to a structural abnormality of the thyroid gland. Approximately 15% of cases are hereditary and secondary to thyroid dyshormonogenesis. Most of these are due to mutations in one of the genes involved in iodine transport or organification, mutations in the thyroglobulin gene or d...

hrp0089fc13.4 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2018

The Kallman Syndrome Gene Product is Specifically Expressed in ACTH-Expressing Cells and Dysplays Sexual Dimorphism Expression in Human Fetal Pituitary

Guimiot Fabien , Bonnard Adeline , Soussi-Yaniscostas Nadia , Schnoll Carol , de Roux Nicolas

Kallman syndrome is defined by the association of anosmia due to an agenesis of the olfactory bulbs and hypogonadotropic hypogonadism due to a GnRH deficiency which is currently explained by a deficit of GnRH neuron migration from the olfactory placode toward the hypothalamus. In fact, the X-linked form of KS is due to loss of function mutations in ANOS1 which encodes an extracellular protein (ANOSMIN) interacting with cell membrane heparin sulfate proteoglycans but a...

hrp0086rfc9.6 | Pathophysiology of Disorders of Insulin Secretion | ESPE2016

Emerging Pitfalls of Etiological Diagnosis of Diabetes in Children and Adolescents? Analysis of a French Cohort of 310 Recent-Onset Cases

Bismuth Elise , Plat Helene , Chevenne Didier , Chantelot Christine Bellane , Carel Jean-Claude , Tubiana-Rufi Nadia

Background: A diagnosis of diabetes in children used to mean type 1 diabetes (T1D) and lifelong insulin therapy. However, over the last decades the spectrum of diabetes has widened and even if auto immunity remains the most prevalent etiology, confounding factors and overlap with other causes of diabetes types sometimes make a revision of the initial diagnosis necessary.Objective and hypotheses: To classify diabetes etiologies in youth with diabetes usin...