ESPE Abstracts

Background: The flash glucose monitoring system (FGMS) has been a great advance in quality of life for patients diagnosed with type 1 diabetes (T1D). However, it is a more expensive method.Objectives: To describe the characteristics of the pediatric population (<18 years) diagnosed with T1D using FGMS, during one year in our community. To assess the degree of satisfaction and possible inconveniences. To evaluate the ...

Background: 17-hydroxyprogesterone (17-OHP) basal levels greater than 2ng/ml has been related to the need to request an ACTH test to dismiss non-classic congenital adrenal hyperplasia. We have seen an increase in baseline levels in 2021 compared to 2020.Objectives: To determine how many of the tests that were requested due to a high basal 17-OHP value, were positive. Assess the need to modify the cut-off points to reques...

Introduction: Glucose sensor usage is increasing in the paediatric type 1 diabetes population. The sensor downloads can provide valuable information about glycaemic levels over a 90-day period and generate an estimated HbA1c based on the average glucose level.Aim: We aimed to test whether the sensor-estimated HbA1c over 90 days was an accurate prediction of the measured HbA1c and whether its accuracy correlated with perc...

Background: Cystic fibrosis-related diabetes (CFRD) is the most common co-morbidity in association with cystic fibrosis. Cystic fibrosis related diabetes is predominantly an insulin deficiency state it shares features of both type 1 and type 2 diabetes, yet there are important differences, which necessitate a unique approach to diagnosis and management. Development of cystic fibrosis related diabetes is associated with a worse lung function, poorer nutritional status, and more...

Background: Premature ovarian failure (POF) is uncommon in pediatrics and when occurs during the adolescence is typically iatrogenic or due to chromosomal anomaly. Also many genes have been identified that contribute to the development of POF, and most of these mutations are extremely rare.Objective: We describe a case of 15 years old female presented short stature and secondary amenorrhea, after a normal puberty but without peak height velocity. She was...

Background: Cushings syndrome is a rare entity in children and generally it presents a female to male predominance. The most common cause in childhood is iatrogenic Cushings syndrome related to chronic administration of glucocorticoids or ACTH. Endogenous Cushings syndrome is divided into ACTH dependent (ACTH overproduction due to pituitary adenoma or ectopic production) and in ACTH independent causes (surrenal adenoma, carcinoma, or bilateral hyperplasia).<p class="abstex...

Background: Macroprolactinomas are rare during childhood. Hypopituitarism is a common feature and recovery of pituitary function was reported following cabergoline therapy.Objective: We present a case of 13 year-old boy with macroprolactinoma who responded to cabergoline therapy with a complete regression of the tumor with a partial empty sella.Results: He complained of a decreased of right vision since 1 year. Evaluation of anteri...

Background: Melanocortin-2 receptor (MC2R) is a member of the G protein-coupled receptor family. MC2R is selectively activated by adrenocorticotropic hormone (ACTH); the binding of MC2R and ACTH activates the heterotrimeric G protein complex, and in turn stimulates steroidogenesis. Pathogenic variants in the MC2R gene result in glucocorticoid deficiency-1 (GCCD1), an autosomal recessive disorder in which unresponsiveness to ACTH leads to deficient secretion of cortisol and adr...

Background: Familial Hypercholesterolaemia (FH) is a common autosomal dominant disorder of low-density lipoprotein (LDL) metabolism characterised by elevated levels of plasma LDL-cholesterol (LDL-C), accelerated atherosclerosis and premature cardiovascular disease (CVD). In the Gulf Co-operation Council states, CVD is often diagnosed at a younger age and is the leading cause of mortality. As such, early genetic diagnosis and treatment of FH is important for ri...

Background: Woodhouse-Sakati syndrome (WSS) is rare autosomal recessive condition characterized by progressive extrapyramidal signs, mental retardation, hypogonadism, alopecia, and diabetes mellitus. The age at disease onset, manifestation and severity of specific symptoms differs significantly among individuals with this syndrome and even among affected members of the same family. The gene C2orf37, which is responsible for WSS, located on chromosome 2q22.3-q35.<p class="a...