ESPE Abstracts

Background: The lipodystrophy syndromes are a heterogeneous group of congenital or acquired disorders characterized by either complete or partial lack of adipose tissue (lipoatrophy). Berardinelli Seip congenital lipodystrophy (BSCL) is a rare metabolic disorder characterized by severe generalised lipodystrophy since birth, insulin resistance, and dyslipemia since early infancy.Case presentation: We report a 6-year-old girl who arrived from Pakistan with...

Background: Despite the lack of drugs, conservative management of childhood obesity allows for considerable weight reduction.Objective and hypotheses: i) To evaluate anthropometric and metabolic changes in obese children after intense weight loss. ii) To analyze the influence of the amount of weight loss and the time spent to attain it on the observed changes. iii) To investigate BMI evolution during the first 3 years after weight reduction.<p class=...

Background: Moya Moya disease is a chronic cerebrovascular angiopathy characterized by progressive stenosis of terminal part of internal carotid vessels and the compensatory development of collateral vessels. We present here the case of a young boy with growth hormone deficiency (GHD) and testicular insufficiency that was diagnosed with Moya Moya syndrome.Case presentation: A 12.9 year-old boy of Serbian origin was referred to the Endocrinology Departmen...

Background: The pituitary set-point for TSH synthesis and secretion is known to be an individual parameter with a strong genetic influence. Type II iodothyronine deiodinase is a pituitary enzyme involved in local deiodination of T4 and negative feed-back loop for TSH secretion. Defects in DIO2 have not been reported in humans; however, Dio2 knockout mouse has pituitary resistance to T4 with elevated TSH, T4 and TSH/T4 ratio, with nor...

Background: There is increasing interest in vitamin D nutrition during pregnancy because of widespread reports of a high prevalence of low vitamin D status in pregnant women in high-latitude areas. It has been related to adverse events in mother and child. Neonates present a greater risk of hypocalcaemia, rickets and a higher incidence of infections during the 1st year of life.Objective and hypotheses: Real situation of pregnant women and newborn in rela...

Background: The progress made in the treatment of childhood cancer has resulted in better long-term survival rates. Therefore sequelae of treatment have become more important.Objective and hypotheses: To investigate the prevalence of early endocrine disorders in survivors of a childhood tumour within the 1st years after diagnosis.Method: We performed a retrospective medical record review of survivors followed at the endocrine clini...

Background: Heterozygous alterations of SHOX and its regulatory region PAR1 are identified in approximately 70% of Léri-Weill dyschondrosteosis and 2–5% of idiopathic short stature cases. Identification of a SHOX mutation enables GH treatment to be offered to the patient.Objective: To evaluate the clinical characteristics of seven patients with SHOX haploinsufficiency and their evolution.Method: Retrospective analysis of ...

Introduction: Failure to thrive (FTT) is a common entity encountered by pediatricians. It can be caused by inadequate energy intake or “organic causes” such as inborn errors of metabolism or disorders of the endocrine system. One cause that is rarely seen is a deficiency of aldosterone.Case presentation: A set of 3-month-old monozygotic male twins presented with failure to thrive and dehydration. Initially, they were evaluated ...

Introduction: Children with Small for Gestational Age (SGA) are known to have lower neurocognitive development and an increased in cardiovascular risk in adulthood. 10% of SGA don´t usually do the catch-up and if they meet criteria they have indication to follow Growth Hormone (GH) treatment.Objectives: To establish the difference between SGA diagnosed children who did or did not catch-up (treated with GH), in terms...

Background: Obesity is characterised by excessive fat accumulation coursing with a chronic mild inflammatory state, with adipose tissue (AT) being the main site of increased systemic cytokine production. Increased adiposity early in life is the main risk factor for cardiometabolic disorders later in life, with the abnormal accumulation of lipids in AT leading to the production of pro-inflammatory cytokines. Inflammatory process that involves metabolic and card...