ESPE Abstracts

Cleidocranial dysplasia (CCD) is a rare genetic condition affecting bone and cartilage growth, primarily transmitted in an autosomal dominant manner. Characterised by the triad of clavicular hypoplasia, delayed closure of cranial sutures, and dental anomalies, CCD was first described in 1765, with its hereditary nature established in 1898. The condition is associated with mutations in the RUNX2 gene, which is important in osteoblastic differentiation. With a prevalence of 1:1,...

Background: Disorders of Sex Development (DSD) comprise several phenotypes due to dysfunction in genes involved in human sexual determination and differentiation. The most frequent aetiologies among 46,XY DSD are androgen insensitivity syndrome and 5-alpha-reductase type 2 deficiency due mutations in AR and SRD5A2 genes, respectively.Objective and hypotheses: The purpose of this study was to investigate mutations in AR and ...

Pediatric severe obesity is a major threat to health and longevity. Around 7% of children worldwide have early onset severe obesity before the age of 7. Pediatric obesity is caused by an interplay of multiple factors: lifestyle, environmental, sociocultural, psychological, biological and genetic factors. Endocrine, monogenetic or syndromal causes are rare, but currently underdiagnosed and important to identify for the need of specific treatment. Cardiovascular risk factors and...

The pandemic has changed habits in families around the world. Eating habits and physical activity were directly impacted by social distance. The first year of the pandemic left its mark on children’s health. The purpose of this analysis was to evaluate the relationship between the first year of the pandemic and the serum lipid profile in children who underwent lab tests in a private laboratory in Curitiba-PR.Methods: Observational a...

Background: The X linked adrenoleukodystrophy (X-ALD) is a peroxisomal disease caused by defects of the ABCD1 gene on chromosome Xq28. This disease is characterized by progressive neurologic dysfunction, and occasionally associated with adrenal insufficiency. The estimated frequency is about 1:42000 in male, whereas the estimated frequency for heterozygous women is 1:14000. There was no correlation between genotype and phenotype of X-ALD patients....

Primary adrenal insufficiency (PAI) is a rare, potentially life-threatening, condition due to abnormalities of steroid biosynthesis or of adrenal gland development and responsiveness. PAI is characterized by impaired secretion of glucocorticoids and can be accompanied by mineralocorticoid and adrenal androgens deficiency or excess, depending on the underlying cause. In adults, the most common etiology is represented by autoimmunity. In contrast, the disease in children is more...

Background: Premature pubarche is the appearance of pubic hair before 8 years in girls and 9 years in boys, being more frequent in girls. Current literature demonstrates associations between premature pubarche and metabolic and cardiovascular diseases.Objective and hypotheses: To evaluate the frequency of cardiovascular disease risk factors in girls with isolated premature pubarche (IPP).Method: Observational study using data from ...

Automated insulin delivery (AID) systems are increasingly gaining popularity as a viable therapeutic option for managing type 1 diabetes. These systems hold the potential to significantly improve outcomes for individuals with T1D by reducing the risk of hypoglycemia and hyperglycemia, alleviating the burden of diabetes self-management along with improving overall quality of life. Implementation of the technology requires new knowledge for individuals with diabetes as well as h...

Aims: Do-It-Yourself Artificial Pancreas Systems (DIYAPS) represent a unique patient-initiated treatment in which commercially available and approved medical devices such as continuous glucose monitoring systems (CGMs) and insulin pumps are connected by an off-label algorithm, and are remotely controlled by open-source algorithms to automate insulin delivery. While these systems are co-created by the DIYAPS community, and access is open to everyone, users have...

Background: Type 1 diabetes (T1D) in teenagers is challenging: the constraints of diabetes add up to the specificities of a delicate age; moreover, this period of life is often associated with impaired metabolic control (i.e. higher hemoglobin A1c - HbA1c). Therapeutic Patient Education (TPE) enables people with chronic diseases to manage their illness and yields benefits in both health and financial terms. The first step of TPE approach is to make an “educational diagnos...