ESPE Abstracts

Introduction: There are well described sex differences in the immune system. It has been shown in both innate and adaptive immunity that females have a more robust response than males. Various autoimmune diseases have a strong sex bias towards females. It is the accepted dogma that oestrogen in females relates to an increased risk of autoimmunity, but evidence to this end is scarce. Interferon alpha (IFNα) is a potent anti-viral innate cytokine, and many autoimmune diseas...

Systemic Juvenile Idiopathic Arthritis (sJIA) is a chronic autoinflammatory disease, with significant complications that can give short-term and long-term disability with reduced quality of life. Growth delay and short stature are described in >40% of cases, with a complex pathogenesis. Chronic inflammation, long-term corticosteroids treatment, hepatic involvement, malnutrition decrease IGF-1 and GH biological effects. Corticosteroids inhibit growth velocity, bone maturatio...

Introduction: Craniopharyngioma, a benign tumor, develops in the sellar/parasellar region. Diagnosis is usually late. Symptoms include severe headaches and vomiting, visual impairment, visual and olfactory hallucinations and at least one hormonal deficiency. Celiac disease is caused by an immune reaction triggered by gluten in the small intestine. Over time, due to inflammation, it causes malabsorbtion which can affect growth in children.<p class="abstext"...

SHOX haploinsufficiency (SHOX-D) is a genetic cause of disharmonic short stature. However, the different impact on phenotype can show differences between patients with the same genotype.GH ameliorates final height, with significant differences between patients for the putative role of environmental factors who can influence growth.We describe the case of two sisters with SHOX-D (target height: 146.8 cm (-2.6SDS); mother: 146.5 cm; ...

Case report: A 10-year-old Italian girl presented with a painless, hard swelling in left fronto-orbital region noted two years earlier. She had no headache or other symptoms; ophthalmologic evaluation revealed no signs of intracranial hypertension; the visual field showed a reduced level of sensitivity in the upper sector of the left eye.Her previous medical history was not relevant except for a mild head injury reported two years earlier. The girl was a secon...

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: Growth is a multifactorial process involving genetic, nutritional and other environmental determinants. Because of a major proportion of ultimate stature is dependent upon an intact GH and IGF1 axis, much attention has been devoted to abnormalities related to these growth factors and their signalling pathways.Objective and hypotheses: At the tissue level, the action of GH result from the interaction of GH with a specific cell surface GH recep...

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...