hrp0082p2-d2-296 | Bone (1) | ESPE2014

Determinants of Vitamin D Levels in Italian Children and Adolescents of Mugello, an Area of Tuscany: a Longitudinal Evaluation

Scalini Perla , Stagi Stefano , Iurato Chiara , Manoni Cristina , Pelosi Paola , Capirchio Laura , de Martino Maurizio , Seminara Salvatore

Background: Few studies have assessed 25-hydroxy vitamin D [25(OH)D] status among Italian children.Objective and hypotheses: To assess 25(OH)D in children and adolescents living in Tuscany, Italy, identifing risk factors for vitamin D deficiency in different age groups.Method: We evaluated 446 children children and adolescents (2.4–17.8 years), from Mugello (latitude 44° N), and we determined 25(OH)D, calcium, alkaline ph...

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-d3-346 | Diabetes (2) | ESPE2014

Two Cases of ‘Unknown’ Lipoprotein Lipase Deficiency and Diabetes Mellitus

Bizzarri Carla , Ciccone Sara , Pedicelli Stefania , Benevento Danila , Baldari Francesca , Patera Ippolita Patrizia , Matteoli Maria Cristina , Cappa Marco

Background: Lipoprotein lipase (LPL) deficiency is an autosomal recessive disease with deficient extrahepatic removal of blood lipoproteins.Objective and hypotheses: Primary LPL deficiency can be exacerbated by coexistent conditions such as diabetes, where relative or absolute insulin deficiency leads to an additional secondary LPL deficiency.Method: We describe two cases in which primary LPL deficiency overlapped with previously d...

hrp0082p2-d2-425 | Growth Hormone (1) | ESPE2014

Electronic Devices and Single-Dose Dispensing Systems GH are the Most Efficient and Less Loss of Drug

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Elizalde Miriam Miriam , Lorente-Blazquez Isabel , Minguez Cristina , Martinez-Martinez Carlos

Background: Several pharmaceutical formulations marketed GHRH, were being restricted in their choice occasions. Three display groups: single-dose, pre-filled pens/vials and electronic devices, self-injection systems. The choice may contribute to a greater or lesser adherence and a difference in the final cost of treatment (drug loss), attributable to the device itself or presentation. Presentations that require reconstitution device load, partial doses or stop in Pen contribut...

hrp0082p2-d3-447 | Growth Hormone (2) | ESPE2014

Efficacy, Adherence, and Cost Study According to Pathology and Treatment Devices in Children Treated with GHRH

Diez-Lopez Ignacio , Sarasua-Miranda Ainhoa , Elizalde Miriam Miriam , Lorente-Blazquez Isabel , Minguez Cristina , Martinez-Martinez Carlos

Background: Currently there are three distinct groups of GH devices: single dose (JM), preloaded pen/vial (VM) systems and electronic devices (DE) autoinjector systems. The choice could determine a greater or lesser adherence and thus influence the final treatment efficacy.Objective: Comparison of the therapeutic efficacy as measured by growth rate (VC), IGF1 as a function of various clinical variables, indicating GH and device used.<p class="abstext...

hrp0082p2-d1-513 | Pituitary | ESPE2014

Polyuria and Polydipsia: The Deep Waters of Diagnosis

Pozzobon Gabriella , Ferrarello Maria Piera , Damia Chiara Maria , Garbetta Gisella , Osimani Sara , Voto Andrea , Partenope Cristina , Pruccoli Giulia , Chiumello Giuseppe

Background: Polyuria and polydipsia must never be underestimated.Objective and hypotheses: A 7-year-old girl presented with polyuria, polydipsia and nocturia of 1 year duration, during which she underwent outpatient follow up with her general practitioner and urologist. No weight loss or other endocrine signs.Method: Polyuria was confirmed by water balance (120 ml/kg per 24 h), urinary osmolality (222 mmol/kg), plasma osmolality (2...

hrp0082p2-d1-587 | Thyroid | ESPE2014

Mutation of the TSH Receptor Gene: a Longitudinal Study in Children with Non-Autoimmune Subclinical Hypothyroidism

Vigone Maria Cristina , Sonnino Micol , Guizzardi Fabiana , Frenna Marianna Di , Caiulo Silvana , Gelmini Giulia , Persani Luca , Weber Giovanna

Background: Neonatal screening strategies revealed an increase in hypothyroidism associated with an in-situ thyroid gland due to TSH receptor (TSHR) mutations. While there are many genetic and functional studies regarding TSHR mutations, few are found concerning the clinical course and long-term outcome of TSH resistance involving the pediatric population.Objective and hypotheses: To determine the impact of TSHR mutations on clinical course, biochemical ...

hrp0082p3-d3-870 | Growth (4) | ESPE2014

Primary Amenorrhea with Normal Stature: Why Not Turner Syndrome?

Hristov Ioana , Hreniuc Ana , Gherasim Simona , Ungureanu Maria-Christina , Preda Cristina , Vulpoi Carmen , Mogos Voichita , Leustean Letitia

Background: Turner syndrome is the most common sex chromosome disorder in females and occurs in about 1/2500 newborn girls worldwide. On chromosomal analysis, the various karyotypes observed are: 45,X (50%); 45,X/46,XX (20%); 46,X, i(Xq) (15%); 46,X, r(X) or 46,X, del(X) (10%); and others (5%).Objective and hypotheses: We present the case of a 17-year-old girl referred to our service for primary amenorrhea. Clinical examination: height=163 cm (62nd perce...

hrp0082p3-d1-909 | Pituitary | ESPE2014

Idiopathic Central Diabetes Insipidus: a Case of Pediatric Xhantogranuloma

Pozzobon Gabriella , Damia Chiara , Voto Andrea , Ferrarello Maria Piera , Garbetta Gisella , Osimani Sara , Pruccoli Giulia , Partenope Cristina , Chiumello Giuseppe

Background: Xhantogranuloma of the sellar region (XG) is a very rare brain tumor and is clinically and pathologically distinct from classical adamantinomatous craniopharyngioma, but the differential diagnosis is difficult because there are no typical neuroradiological signes. The characteristic and the outcome of XG in children remain still unclear.Objective and hypotheses: We aimed to describe a case report of XG and multiple pituitary hormone deficienc...

hrp0082p3-d2-988 | Thyroid (1) | ESPE2014

Thyrotoxicosis in Childhood and Adolescents

Hreniuc Ana , Leustean Letitia , Bodescu Ioana , Hristov Ioana , Gherasim Simona , Preda Cristina , Vulpoi Carmen , Mogos Voichita , Ungureanu Christina

Background: There are many aspects of the child thyrotoxicosis similar as in adult but there are also particular characteristics. Thyrotoxicosis is rare in childhood and in majority is about Grave’s Disease.Study Group: 61 patients with ages between 9 and 19 years that were admitted for hyperthyroidism in our department for 19 years. The diagnosis was sustained by clinical signs, hormonal profile, and ultrasound and scintigraphy exam.<p class="a...