ESPE Abstracts

Introduction: Adrenal insufficiency can be caused by different factors. Biotin deficiency is either nutritional or related to synthesis/recycling defects. We are reporting a rare case of adrenal insufficiency complicating a late diagnosis of holocarboxylase synthetase deficiency in an infant who also had protein-S-deficiency, later thought to be secondary.Case: Term female infant born, to non-consanguineous parents, in good condition wit...

Aim: Quail egg (QE) consumption became popular among children for alleged health benefits. Based on our observation of premature thelarche (PT) in a few children who consumed QE, we investigated the relationship between QE and puberty by a clinical and an experimental studies.Method: In the clinical study, a questionaire was used to compare the frequency and amount of QE consumption (between 55 girls with PT (n ...

Introduction: Fulminant type 1 diabetes (FT1D) occurs because of a sudden and almost total destruction of pancreatic β-cells, triggered by a viral infection. FT1DM may cause diabetic ketoacidosis (DKA) and even sudden death. Thus prompt diagnosis is vital.Case Report: Antibiotic treatment was started for a 4-year-old female patient because of a fever and cough. On the second day of treatment, she was admitted with r...

Background: Hyponatremia is an electrolyte disorder, that may lead to severe complications such as rhabdomyolysis, seizures, coma, and death. Clinicians do take hyponatremia seriously. However sometimes clinicians should be careful in interpreting the low laboratory sodium level as it does not necessarily reflect the actual natremic status especially when the patient is euvolemic and having normal serum osmolality, for which pseudohyponatremia should be consid...

X-linked hypophosphataemia (XLH) is the most common form of inherited hypophosphataemic rickets, caused by loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homologue X-linked (PHEX), resulting in excess circulating fibroblast growth factor 23 (FGF-23).1,2 In children, clinical features include delayed walking, waddling gait, leg bowing, pain, spontaneous dental abscesses and growth failure. Current therapies do not treat the underly...

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is an autosomal recessive disease in which adrenal synthesis of glucocorticoids and mineralocorticoids is impaired and steroid biosynthesis is directed toward the formation of excessive androgens. Persistently high androgens will accelerate bone maturation and reduce final adult height.Objectives: To assess the efficacy of androgen antagonist Flutamide and aromatase inhibitor Tastolact...

Background: Bisphenol A (BPA), a plastic byproduct, is a known endocrine disruptor and is types of cancers, such as prostate and ovaries, and some other health conditions, for instance diabetes and obesity. It has direct effect on reproductive system through its strong oestrogen agonist activity.Objective and hypotheses: BPA has a strong oestrogen agonist activity. And oestrogen antagonize cellular activity of growth hormone (GH), however, the effect of ...

Background: HRQoL has been acknowledged as an essential health outcome measure. Studies have shown that enhancing the HRQoL and well-being of children with diabetes is as important as metabolic control in preventing secondary morbidity. Objectives: to evaluate HRQoL of children and adolescents with T1D managed at our institute and investigate factors (patient and disease-related) associated with HQoL scores.Methods: a cr...

Background: GnRHa is the treatment for CPP, it arrests puberty progression, slows bone age (BA) maturation, and increases pubertal height. In the last decades, the use of GnRHa has demonstrated its favorable effects on linear growth, although the net height gain and predictors of long-term outcomes remains debated. Concerns raised on thepotential negative effects of treatment on weight and reproductive function.Methods: ...

Background: Laron syndrome is an autosomal recessive disease caused by molecular defect in GH receptor gene. The patients have severe growth retardation and clinical features of GHD with low IGF-1, high basal GH and failed response to IGF-1 stimulation test. The only proved treatment is daily recombinant IGF-1 administration which showed improvement in linear growth.Aim: To describe the largest group of patients with lar...