ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency is the second most common form of CAH, resulting from a mutation in the CYP11B1 gene. Steroid 11β-hydroxylase deficiency results in excessive mineralcorticoids and androgen production leading to hypertension, virilisation, and ambiguous genitalia of genetically female infants.Objective: The aim of the study was to identify the molecular detect ca...

Introduction: Genetics, diet, and physical activity are just a few of the variables that determine child growth rates, but seasonal variations in these variables can also have an impact on growth patterns. Among kids aged four and five, we looked at the seasonality of changes in height, body weight, and BMI.Methods: This was a pilot study carried out in Palestine at a private school where psychological factors could be r...

Introduction: Type 1 diabetes mellitus (T1DM) is a chronic disease characterized by absolute insulin deficiency, it’s usually diagnosed in children and adolescents. According to a recent report from the International Diabetes Federation, Saudi Arabia has 14,900 children with T1DM. The incidence is increasing over the last years with prevalence rates of 48 per 100,000 in the eastern region. Parents play an important role in the management of T1DM in children. As a result, ...

Adrenocortical carcinoma is very rare in children, with annual incidence of 0.21 case per million patient younger than 20 years. At this article I reported two patients. First case was A 16-month-old girl presented with 3 months history of increased appetite and rapid weight gaining, appearance of hair at pubic area for 2 months and acne on face for one-month duration. Parents are non-consanguineous, had no endocrine disorders or tumors. On examination: chubby baby, cushingoid...

Introduction: Hypothyroidism is one of the commonly diagnosed endocrinopathy in children. The typical manifestations of a hypofunctioning thyroid are lethargy, somnolence, dry skin, cold intolerance, constipation, weight gain and bradycardia along with faltering height. Hypothyroidism presenting with typical manifestations is therefore readily suspected and diagnosed. Occassionally, the patients might present with unsual clinical features which might mimic oth...

Background: Neonatal severe hyperparathyroidism (NSHPT) is a rare disorder caused by inactivating calcium-sensing receptor (CASR) mutation characterized by striking hyperparathyroidism leading to severe hypercalcemia. Heterozygous loss of function in CASR gives rise to a benign variant called familial hypocalciuric hypercalcemia which needs no treatment. We are reporting 3 cases of NSHPT due to inactivating homozygous CASR mutation n...

Background: An underestimated figure of 1,249 children with type 1 diabetes mellitus (T1DM) was diagnosed in Indonesia from 2017 to 2019. In 2021, there were around 0.05 paediatricians per 1,000 children in Indonesia. Only 1.2% (n=54) were pediatric endocrinologists practising in 17 out of 38 provinces populating urban areas in Indonesia. Therefore, Changing Diabetes in Children (CDiC) Indonesia, a public-private partnership, has delivered training fo...

Background: Advances in the treatment of childhood and adolescence cancer treatment have led to significant increase in survival rate. Current 5-survival rate of childhood cancer is nearly 80%. Hematopoietic stem cell transplant (HSCT) is treatment of choice in many clinical conditions including malignant and non-malignant hematological diseases, solid tumors and immunodeficiency diseases. Children receiving HSCT are prepared with different pre-transplant cond...

Type 1 diabetes mellitus (T1DM) is a condition caused by the clonal generation of autoantibodies by B cells. Rituximab, an immunosuppressive agent, has been shown in studies to protect pancreatic function in individuals newly diagnosed with type 1 diabetes mellitus (T1DM). We investigated the effects of rituximab in two individuals with newly diagnosed T1DM. Case 1 was a 10-year-old boy, and Case 2 was a 4-year-old girl, both of whom had T1DM. Insulin secretion capability was ...

Background: Hereditary vitamin D resistant rickets (HVDRR) or vitamin-D dependent rickets type II is an autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene, causing end-organ resistance to the action of 1,25-dihydroxyvitamin D (calcitriol), thus resulting in the distinct characteristics of early-onset rickets, hypocalcemia, and secondary hyperparathyroidism. The currently accepted treatment modality is bypassing the affected r...