ESPE Abstracts

Background: Heterozygous loss-of-function mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with advanced bone age, early-onset osteoarthritis and intervertebral disc disease (SSOAOD; OMIM#165800). ACAN mutations is a relatively common finding in idiopathic short stature (ISS) and has been reported to be the cause of growth failure in approximately 2% of children with ISS. However, the underlying cellular and molecular mechanisms by ...

A 4.9-year-old girl presented with a 6-month history of excessive body odour and suspected breast development. Family history was significant for presence of Lynch syndrome in both her father and paternal grandmother. At presentation, she was pre-pubertal but tall for her age. Her height was 124 cm (SDS 3.5), and weight was 27.1 kg (SDS 2.69). Her height velocity was accelerated at 15 cm/year and bone age was advanced at 7 years. Investigations revealed an elevated IGF-1 (500 ...

Introduction: Adolescent polycystic ovary syndrome (PCOS) is characterized by androgen excess and oligo-amenorrhea, and often results from ectopic lipid storage due to a mismatch between early adipogenesis and later lipogenesis. Endogenous HOTAIR and exogenous pioglitazone are enhancers of subcutaneous adipogenesis, particularly in the gluteofemoral region. The A allele of HOTAIR rs1443512 is an equivalent of a natural knock-down and is thus a candidate to inf...

Abstract: The SARS-CoV-2 virus uses ACE2 combined with the transmembrane-protease TMPRSS2 to enter and infect thyroid follicular cells. Studies have reported a higher incidence of hyperthyroidism cases during the COVID-19 pandemic compared to pre-pandemic periods. Studies have also been reported cases of thyroid dysfunction early after mass covid vaccinations. However, there are insufficient data to confirm these associations in children.<p class="abstext"...

Objective: Despite published guidelines, there is no single approach to management in congenital adrenal hyperplasia (CAH). The objective of the study was to explore the variations in treatment for CAH in Spain.Material and methods: A retrospective study in a single center was done analyzing the data provided by patients and relatives through the Spanish Association of CAH from a online survey of 25 questions. It was dif...

Introduction: Type 1 Diabetes Mellitus (DM1) is an autoimmune disease resulting from the destruction of pancreatic β cells. After the diagnosis, up to 80% of patients spontaneously experience partial remission (PR) for months. New biomarkers are being studied, such as the betatrophin protein (ANGPTL8) of unknown function, but which could be involved in the evolution of DM1, in this phase of RP and even used as a therapeutic target.Methods: Observati...

The obesity epidemic continues to be a dramatic problem in the developed world despite attempts to curtail its rise. Reducing energy intake and/or increasing energy expenditure can result in weight loss; however, if one returns to their poor lifestyle habits the previous weight is not only recuperated, but often surpassed.We hypothesized that although a normal body weight may be achieved, the hypothalamic circuits controlling appetite and energy expendit...

Background: Central adrenal insufficiency(CAI) is a potential life-threatening condition and a prompt diagnosis represents a clinical challenge; indeed, the Insulin Tolerance Test(ITT), gold standard for CAI diagnosis, can be contraindicated in some conditions. Aims were to evaluate the diagnostic value of the ACTH low test(ACTH-LT) compared to the ITT and to identify eventual determinants(primary diagnosis, risk factors, symptoms, baseline cortisol, hypothala...

Medical antiretroviral treatment changed dramatically the course of the infection and life expectancy of people living with HIV (PLWH). However, age-dependent morbidity and mortality remains high, mostly due to non-HIV related conditions. Among others, cardiovascular diseases is nowadays an important cause of morbidity in PLWH. Integrase inhibitors are now part of the standard treatment scheme, because of their efficacy and tolerability. However, recent reports showed an impor...

Introduction: Short stature is a common disorder in children that can become a challenge for clinical and molecular diagnosis. Recent studies in genetics and the implementation of Next-Generation Sequencing (NGS) in growth disorders have demonstrated the great genetic heterogeneity of short stature and the existence of highly varied phenotypes. The absence of homogeneous clinical criteria for conducting studies makes it difficult to evaluate the efficacy of th...