hrp0086p2-p661 | Growth P2 | ESPE2016

‘First Do No Harm’: Growth Hormone (hGH) Treatment in a Case of Recurrent Craniopharyngioma

Zmau George-Sebastian , Armasu Ioana , Beleceanu Alina , Bursuc Anamaria , Puiu Mirela , Poeata Ion , Preda Cristina , Vulpoi Carmen

Introduction: Craniopharyngiomas (CP) are benign, dysontogenic supra or intra-sellar tumours. They are locally aggressive with severe endocrine, neurological and ophthalmological implications. Somatotroph deficiencies rise therapeutic management problems due to increased risk of tumour growth and recurrence.Case report: Male patient, aged 18 years 4 months, born naturally, late-term (42 weeks, 3200 g, Apgar 7), third child in a brotherhood of four (appar...

hrp0086p2-p664 | Growth P2 | ESPE2016

Case Report of SHOX Gene Haploinsufficiency Diagnosed in Early Infancy

Cinzia Pozzobon Gabriella , Gallo Dario , Damia Chiara , Partenope Cristina , Marinella Gemma , Osimani Sara , Pajno Roberta , Weber Giovanna

Background: SHOX-D is rarely diagnosed in early infancy as cause of short stature.Objective and hypotheses: Describe clinical characteristics of two girls with an early diagnosis of Leri-Weill dyschondrosteosis, admitted to our hospital because of severe short stature.Method: Mutation screening of SHOX and its regulatory regions was performed by MLPA. Family analysis was undertaken.Results: The first 1.3 year...

hrp0086p2-p787 | Pituitary and Neuroendocrinology P2 | ESPE2016

Giant Macroprolactinoma in a Female Adolescent – Case Report

Hreniuc Ana , Gherasim Simona , Ungureanu Maria-Christina , Preda Cristina , Vulpoi Carmen , Mogos Voichita , Rotariu Daniel , Poeata Ion , Leustean Letitia

A female patient was firstly evaluated at the age of 12 years, complaining of headaches and visual loss. Physical examination demonstrated adequate height and weight, Tanner stage P1B1. Papillary edema was confirmed by fundus examination. MRI showed a pituitary macroadenoma, 6.6×7.3×6.1 cm with compression of the optic chiasm and bilateral cavernous sinus invasion. The first prolactin value obtained was 169.164 uUI/ml (normal<210) with the other pituitary axis wi...

hrp0086p1-p820 | Syndromes: Mechanisms and Management P1 | ESPE2016

International Cooperative Growth Study, NutropinAq® European Registry (iNCGS): Countries Specificities

Coutant Regis , Chiarelli Francesco , Munoz Jordi Bosch , Dumitrescu Cristina , Schnabel Dirk , Sert Caroline , Perrot Valerie , Dattani Mehul

Background: The European iNCGS registry aims to collect long-term safety and effectiveness information in paediatric patients receiving NutropinAq® for growth failure.Objective and hypotheses: To report patient baseline characteristics and exposure to NutropinAq® per country.Method: International, multicentre, open-label, non-interventional, post-marketing-surveillance study.Results: As of 31-Dec-20...

hrp0086p2-p933 | Thyroid P2 | ESPE2016

Clinical Case of Acute Liver Injury in Pediatric Patient with Autoimmune Hyperthyroidism

Caiulo Silvana , Vigone Maria Cristina , Peroni Elena , di Frenna Marianna , Saracco Luca , Memoli Massimo , Barera Graziano , Weber Giovanna

Background: Autoimmune hepatitis (AIH) and methimazole (MMI)-induced toxic hepatitis are both rare diseases in pediatric age.Case presentation: We present the case of a 15-year-old girl affected by idiopathic arthritis and autoimmune thyroiditis. The autoimmune thyroiditis was diagnosed at 13 years of age. At 15 years old she developed hyperthyroidism (TSH <0.01 mcU/ml, FT4 2.3 ng/dl, FT3 8.4 pg/ml, TRAb 18 IU/l) and was treated with MMI (0.28 mg/kg ...

hrp0082p1-d2-37 | Bone | ESPE2014

Vitamin D Levels and Effects of Vitamin D Replacement in Children with Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome

Scalini Perla , Stagi Stagi Stefano , Iurato Chiara , Menchini Camilla , Manoni Cristina , Anzillotti Giulia , de Martino Maurizio , Seminara Salvatore

Background: The periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome, is an autoinflammatory disease characterised by regularly recurrent fever episodes, due to seemingly unprovoked inflammation.Objective and hypotheses: The aim of the study was to assess serum 25-hydroxy cholecalciferol (25(OH)D) concentrations in children with PFAPA and to evaluate longitudinally the effect of wintertime supplementation on 25(OH)D st...

hrp0082p1-d2-113 | Fat Metabolism &amp; Obesity (1) | ESPE2014

Prenatal Maternal Weight and Weight Status and Lipid Profile of the Offspring

Riano-Galan Isolina , Rodriguez-Dehli Cristina , Velazquez Ines Olaya , Fernandez-Somoano Ana , Valvi Damaskini , Rebagliato Marisa , Ibarluzea Jesus , Tardon Adonina

Background: Childhood obesity is a serious public health concern. To identify risk for obesity in early childhood is important.Objective: To analyse association of pre-pregnancy maternal weight with BMI and metabolic profile at 4 years.Methods: 2604 pregnant mothers and 1960 children from the Spanish population-based cohort study Environment and Childhood (INfancia y Medio Ambiente) Project (INMA). Research protocol was approved by...

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...