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...

Background: MKNR3 is a paternally expressed gene whose loss-of-function mutations cause Central precocious puberty (CPP). The precise molecular disruption produced by MKRN3 mutations remains unclear albeit protein structure suggests MKRN3 could play a role in proteasome ubiquitination. Circulating MKRN3 levels has been negatively associated to LH peak, estradiol and kisspeptin in idiopathic CPP and healthy controls. However, no literature data is available for...

A 5-year-old Moroccan patient comes to our attention due to impaired gait with pain in the lower limbs, easy fatigue and poor gain in weight and stature. In the previous months he had some episodes of abdominal pain. During our first physical examination he was pale, with diffuse muscular hypotrophy, uncertain gait with an enlarged base, dubious hypertrophy of the calves and Gowers' sign. No varus / valgus of the lower limbs. Symmetrical and normo-evocable osteotendinous ...

A 5-year old boy was referred to our clinic for short stature reported since first years of life. At birth weight and length were normal, psychomotor development was regular, target height was 165.9 cm. At 7 months of life he was subjected to correction of cleft lip-palate. Since 3 years of life he suffered from headache, for which a fundoscopy was performed and revealed a Morning Glory Disc Anomaly (MGDA) of the right eye. At our first visit height was 98.2 cm (-2.5DS), body ...

Childhood obesity has become a major health issue in the last decades. Moreover, identifying a simple, feasible, and valid screening tool to select subjects at higher risk for obesity-related comorbidities has become a challenge. Current guidelines reccommend to use BMI percentile for overweight and obesity diagnosis. However, waist-to-height ratio (WHR) has been associated with the risk of metabolic derangement in children and adolescents with overweight and obesity. In addit...