ESPE Abstracts

SHOX haploinsufficiency (SHOX-D) is a cause of disharmonic short stature and a possible genetic cause of idiopathic short stature also in familial cases. We describe clinical, hormonal and genetic characteristics of patients with SHOX-D haploinsufficiency, followed and treated in the period 2014–2017, in a single Italian centre. The Rappold score was used to screen short children, to select those who needed a genetic analysis of SHOX gene by MLPA and sequencing. We select...

Introduction: The development of the dentomaxillary system in children involves a normal thyroid function. Juvenile hypothyroidism has different complications depending on the congenital or acquired nature of it.Objective: To identify periodontal changes under the conditions of chronic autoimmune thyroiditis and subclinical hypothyroidism.Material and method: The study group comprised 24 young patients, 15 girls and 9 boys (15.2&#1...

Background: Chromosomal imbalances are often due to sub microscopic deletions or duplications not evidenced by conventional cytogenetic methods.Objective and hypotheses: CGH array can help in the diagnosis of severe short stature, associated with mental retardation and dysmorphisms.Method: We describe the clinical case of a 13.1-year-old girl, born at 35 weeks, from a triplets pregnancy. She was 127.5 cm (<−5 SDS), 33 kg ...

Background: Congenital hypothyroidism (CH) has a high incidence, with a local increase in our screening relieves in the last years.Objective and hypotheses: An accurate follow up and an appropriate treatment guarantee an adequate neurological and auxological development.Method: We describe the personal report of 74 children (27 males and 43 females) with CH, diagnosed by neonatal screening and followed for 8.5±5.3 years.<p...

Background: Primary Addison’s disease (AD) is a rare endocrine condition, with reduced or absent secretion of adrenal hormones. Steroid replacement therapy normalizes endocrine assess and the quality of life. More than a half of patients display additional autoimmune conditions, which represent a considerable clinical concern.Objective and hypotheses: Antiparietal cells antibodies (APC-Ab) are commonly found in patients with autoimmune Addison’...

Background: Hashimoto thyroiditis (HT) is the most frequent acquired thyroid disease in childhood and adolescence. However it can evolve silently also for a long period, without signs and/or symptoms evocative of the diagnosis.Objective and hypotheses: A late diagnosis can reduce growth velocity, increase weight and particularly BMI, with an increased risk of obesity in pubertal age.Method: We analyzed 39 patients (age: 11.3±3...

Background: Genes in the HLA region confer about 50% of the genetic risk of type 1 diabetes (T1DM). More than 40 different genes give a minor contribution to T1DM risk, some of them are related to the immune function.Case presentation: A girl was referred at the age of 9 months with severe ketoacidosis in T1DM at onset. Anti-insulin autoantibodies were positive. She was the only daughter of unrelated Caucasian parents, born at term by vaginal delivery. T...

Background: SHOX deficiency is a frequent cause of short stature. GH therapy has been approved for growth promotion in individuals with SHOX mutations by FDA and EMEA.Case report: Three patients with Leri-Weill syndrome (LWS) started GH therapy at different chronological ages (CA). Patient 1 started GH+LHRHa at the CA of 13.4 years, height 148.4 cm (−1.5 S.D.), Tanner stage 4, bone age (BA) 13 years. Target height (TH) 160.5 cm (&#87...

Background: Pubertal timing is influenced by a complex interaction among genetic, nutritional, environmental and socioeconomic factors. Over the past 30 years a trend in pubertal timing anticipation has been demonstrated. Environmental factors involved in this phenomenon are mainly represented by endocrine disruptors compounds (EDCs), such as pesticides, industrial compounds and persistent organic pollutants, estrogens and phytoestrogens.Objective and hy...

Introduction: Endocrinopathies are common features of intracranial germ cell tumours (IC-GCTs), either as presenting symptoms caused by tumour itself or as side effects of treatments.Aims: We examined the development of endocrine dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow up.Methods: We collected clinical, radiological, histopathological and hormonal...