hrp0082p1-d2-211 | Reproduction (1) | ESPE2014

The Incidence of Childhood Gonadoblastoma Over 15 Years in the Republic of Ireland

O'Connell Susan M , Lynch Sally-Ann , Coyle David , McDermott Michael , O'Sullivan Maureen , Roche Edna , Quinn Feargal , Cody Declan

Background: Gonadoblastoma is a rare tumour of the gonads presenting in childhood or adolescence. It is a lesion composed of a mixture of germ cells at different stages of maturation, with low malignant potential. It is associated with disorders of sex development (DSD), most commonly Turner mosaic syndrome with Y chromosome material (TMSY), and 46XY gonadal dysgenesis (GD). Little is known about the natural history and incidence of this rare tumour.Obje...

hrp0082p2-d3-314 | Bone (2) | ESPE2014

Early Calcinosis Cutis, Short Stature and Brachydactyly: a Case Evolution

Riano-Galan Isolina , Rodriguez-Dehli Cristina , Huidobro-Fernandez Belen , Alvarez M Victoria , Flores Silvia Avila , Toral Joaquin Fernandez

Background: Subcutaneous calcification is a rare clinical symptom in infancy. Progressive evolution and association with brachydactyly could be indicators of Albright hereditary osteodystrophy (AHO). In clinical practice, AHO is difficult to diagnose because of clinical heterogeneity. Typical features of AHO without any evidence of hormone resistance are termed pseudopseudohypoparathyroidism (PPHP; OMIM 612463).Case report: Male patient referred to study...

hrp0082p2-d3-394 | Fat Metabolism & Obesity (2) | ESPE2014

From the Need of Preventing Infantile Obesity as soon as Possible: a New Score at Birth

Sanz Nuria , Asencio M Jesus , Buj Angeles , Marzo Corpus , Rodriguez Juan Manuel , Sanchez Consol , Ibanez Lourdes , Marcos Maria Victoria

Background: Infantile obesity is nowadays a pandemic disease and needs a paediatrician interventional attitude. Since 1990 until 2010 it has trebled and the World Health Organization recommends prevention ‘as soon as possible’ even during the first year of life. A Spanish study (Aladino 2011) stimated the prevalence of overweight in boys as a 26.3% and in girls a 25.9% and the prevalence of obesity as a 22% and a 16.2% respectively. Our aim was to set up a new score ...

hrp0082p2-d2-432 | Growth Hormone (1) | ESPE2014

Growth Hormone Treatment in Children with SGA During a 5-Year Period, Assessment of Auxological Development and Insulin Resistance

Lopez-Siguero J P , Martinez-Aedo M J , Bermudez J A , Cabrinety N , Bosch J , Lechuga J L , Torralba R

Background: Treatment with GH of children born SGA allows an increase in growth velocity (GV) and improves adult height. Increased insulin resistance has been described in these patients, which reverts after interrupting GH administration. However, long-term metabolic consequences are not clearly established.Objective and hypotheses: Describe insulin resistance (HOMA-IR index) and auxological development (GV and height) in SGA children treated with GH fo...

hrp0082p2-d2-470 | Growth (1) | ESPE2014

Severe Short Stature due to a Heterozygous igf1r Mutation With a Good Response to rhgh Therapy: a Family Study

Borras-Perez Victoria , Fernandez-Cancio Monica , Gomez-Nunez Ana , Catala-Puigbo M , Audi Laura , Campos-Barros Angel

Background: IGF1 resistance syndrome (IGF1RS) is characterized by intrauterine and postnatal growth deficit with normal or supranormal IGF1 levels. Additional features may include intellectual deficit, microcephaly, and dysmorphisms. IGF1RS may be caused by genomic or genetic defects affecting the IGF1R locus (15q26.3).Objective and hypotheses: Case report: a girl born at 36.5 weeks, BW 1.935 g (−3.2 SDS), length 41 cm (−4.4 SDS) and...

hrp0082p3-d3-658 | Autoimmune Endocrine Disease | ESPE2014

Increasing Testicular Size due to Bilateral Large Cell Calcifying Sertoli Cell Tumours in a Peri-Pubertal Child with Carney Complex

Geoghegan Sarah , Morrissey Rose , Moore Michael , O'Sullivan M , Murphy Michelle , Irvine Alan , O'Riordan Stephen , Quinn Fergal , O'Connell Susan

Background: Carney complex (CNC) is a rare multi endocrine neoplasia syndrome associated with endocrine and non-endocrine tumours. Three types of testicular tumour have been described; large cell calcifying Sertoli tumours (LCCST), Leydig cell tumours and testicular tumours of adrenal origin. LCCST is a rare benign stromal tumour, which has been observed in 41% of males affected with CNC, usually appearing in the first decade of life. It can be hormonally active, presenting wi...

hrp0084p2-223 | Bone | ESPE2015

Refractory Hypercalcaemia of Malignancy: Responsiveness to Denosumab and Zoledronate

Giri Dinesh , Ramakrishnan Renuka , Hayden James , Brook Lynda , Das Urmi , Mughal M Zulf , Selby Peter , Dharmaraj Poonam , Senniappan Senthil

Background: Hypercalcaemia secondary to malignancy is rare in children and adolescents. Parathyroid hormone related peptide (PTH-rP) secreted by malignant cells increases bone resorption and renal calcium retention causing hypercalcaemia. We report 2 cases of hypercalcaemia of malignancy refractory to treatment with pamidronate and corticosteroids but responsive to treatment with Denosumab and Zoledronic acid.Case 1: A 17-year-old boy with epidermolysis ...

hrp0084p2-323 | DSD | ESPE2015

Chromosomal Variations in Children and Adolescents with Gender Dysphoria: Is Routine Karyotyping Indicated?

Goedhart Claire , Brain Caroline , Viner Russell M , Alvi Sabah , Mushtaq Talat , Walker Jenny , Carmichael Polly , Butler Gary

Background: Chromosome analysis is always indicated in disorders of sex development (DSD), but the need for karyotyping in gender dysphoria (GD) is less clear.Aims and objectives: We therefore aimed to review the place of routine chromosome analysis in the management of GD in children and adolescents.Patients and methods: 490 children and adolescents with GD have been referred to the two endocrine clinics forming part of the joint ...

hrp0084p3-637 | Autoimmune | ESPE2015

About a Case of Basedow-Graves’ Disease in a Infant

Bassaid M A , Bouriche K , Senouci D , Mazari W , Kaddour F Hadj , Ghellai F , Bendjelloul A , Medjahdi A , Berber N , Bendeddouche A S

Background: A disease of the immune system, responsible for 95% of cases of hyperthyroidism in children is very rare at this age, it affects one child in 10 million.Presentation: Khadija 3 year old girl admitted for goiter, no goitrogenic substances No drug Shot, No Inbreeding, goiter paternal aunt, The trouble was in the beginning 1 year a height and weight advance:+1 DS weight, height+3.2 DS, weakness, weight loss, Profuse sweating, tachycardia, irrita...

hrp0084p3-938 | GH & IGF | ESPE2015

An Open-Label Phase 2 Dose-Finding Study Comparing Three Different Doses of Weekly TV-1106 and Daily Recombinant Human GH (Genotropin®) in Treatment-Naive, Pre-Pubertal, GH-Deficient Children

Rosenfeld Ron G , Wit Jan M , Malievsky Oleg , Bolshova Elena , Brown Kurt , Sakov Anat , Anscheutz Gaya , Bassan Merav , Butler Kathleen

Background: TV-1106 (Teva Pharmaceuticals) is a genetically fused human GH and human serum albumin, in development for treatment of GH deficiency (GHD). TV-1106 has an extended duration of action compared to daily GH treatment and thus it is believed that treatment with TV-1106 can reduce the frequency of injections and improve compliance and quality of life for those requiring growth hormone replacement therapy. The efficacy and safety data from adult studies with TV-1106 sup...