ESPE Abstracts

Background: Rare metabolic bone diseases (RMBD) are at the crossways of Endocrinology, Nephrology, Orthopaedic surgery and Rheumatology. Most of RMBD lead to short stature, bone pain, tooth anomalies, leg deformities, bone fragility and disability of variable importance. The organization of care varies immensely amongst European countries. Several European networks dedicated to RMBD already exist, supported by societies such as ESPE, ECTS or research grants, albeit their focus...

Introduction: Craniopharyngiomas (CP) are rare pediatric intracranial tumors (1.2-4%) with a peak of incidence between 5-14 years . We retrospectively reviewed data of 16 cases (M/F 4/12) diagnosed before 4 years of age (median follow up 7.2 years) from a cohort of 117 patients (pts) (M/F 56/41) diagnosed after 01/01/2000, followed-up in 14 Italian centres of pediatric endocrinology belonging to the Italian Society for Pediatric Endocrinology and Diabetolo...

Background: Type 1 diabetes (T1DM) is associated with low bone mineral density (BMD) and bone alterations, probably due to lack of insulin and chronic hyperglycemia. Sclerostin and Dickkopfs-1 (DKK-1) are Wnt signaling inhibitors involved in bone remodelling.Objective and hypotheses: To assess serum levels of DKK-1 and sclerostin in T1DM children and adolescents on continuous subcutaneous insulin infusion (CSII) or multiple daily therapy (MDI). We hypoth...

Background: Many studies have shown that GH therapy can increase final height in children born SGA. Adult height and growth velocity can be improved in these subjects even if there is not a deficiency of endogenous GH (GHD).Objective and hypotheses: We aimed to analyze growth response after 1 year of GH treatment in children born SGA without GH deficiency.Method: Ten patients (six M, four F) born SGA (according to Gagliardi et ...

Background: ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation) syndrome is a rare and underdiagnosed disease with high mortality rate. When a neural crest tumor (NET) is detected (56% of patients) the acronym used is ROHHADNET.Aim: To analyze the relationship between clinical variables, hypothalamic-pituitary disorders, DXA parameters and neural tumors, in ROHHADNET patie...

Mosaic variegated aneuploidy (MVA) syndrome represents a rare autosomal recessive disease characterized by aneuploidies with gain and loss of multiple chromosomes. We describe case of two Moroccan brothers with MVA2, due to CEP57 mutations. Patients are 17 and 13-year-old male siblings of a Moroccan healthy consanguineous couple. Oldest brother was delivered at 35 gestational weeks after IGR diagnosis, small for gestational age (SGA, 1300 grams, -3 SDS). Younger patient’...

Six-year-old female, diagnosed with GH deficiency at another Center (H: -3.13SDS; H peak with clonidine 5.7ng/mL, with insulin 1.2ng/mL). Brain MRI at diagnosis: small pituitary gland, ectopic neurohypophysis, normal stalk, right internal carotid artery aplasia. At 10 years onset of polyuria-polydipsia syndrome (PPS) (4L/day–154ml/kg/die); mood disorders and ADHD diagnosis were also reported. A fluid deprivation test was performed, lasting 22 hours (pre: S-Osm 275mOsm/L,...

Although craniopharyngiomas are low-grade tumours, long-term survivors frequently suffer from severe morbidity due to hypothalamic lesions, such as hypothalamic obesity, that is largely resistant to lifestyle modification and pharmacotherapy. We investigated the efficacy of bariatric surgery in two patients with craniopharyngioma-related hypothalamic obesity during 18 months of follow-up. Patient n1, diagnosed with craniopharyngioma and treated with complete surgical excision ...

A 5-years-old boy was admitted because of polydipsia and polyuria. His family history was unremarkable. After water deprivation test (10h), laboratory test showed high levels of serum sodium (150.1 mmol/L), low urine osmolarity (88 mOsm/kg) and high serum osmolarity (301 mOsm/kg) consistent with the diagnosis of central diabetes insipidus (CDI). He started therapy with oral desmopressin with clinical improvement. Brain MRI revealed pituitary stalk thickening (3 mm), no hyperin...

Birth chest circumference(CC) shows often, like birth gestational age(GA), tight direct relations to birth body weight(BW). However distinct connections of hypoxia/undernutrition with different body structures might be suspected based on brain-, heart- and adrenal-sparing following intrauterine growth restriction and, postnatally, on higher chest size for body mass observed at high altitude. Growth retarded fetuses gestated by hypoxic rats may present increments of blood serum...