ESPE Abstracts

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 ...

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: 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...

Periodontal disease is defined as inflammation within the supporting tissues of the teeth, progressive attachment loss, and bone loss. It results from an extension of inflammation from the gingiva into deeper periodontal tissue. Periodontal disease is well studied among the adult population. Diabetes mellitus is considered as one of its risk factors among adults. We conducted this cross-sectional pilot study to investigate the association of periodontal disease and metabolic c...

Background: The prevalence of type 2 diabetes (T2D) is significantly increased in pediatric population, which is affected by obesity worldwide. The progression of insulin resistance to T2D in obese children has been shown to be faster than in adults. Therefore, screening for T2D seems meaningful especially in high risk groups such as children and adolescents with obesity, family history of T2D, and those with clinical features of insulin resistance (hypertension, dyslipidemia,...

Background: Precocious puberty (PP) is one of its variations which defines as appearance of physical signs of sexual development in a child prior to the earliest accepted age of sexual maturation, 7 years in girls and 9 years in boy. The exact mechanisms and genetic background of ICPP are not well understood. It is suggested that the kisspeptin neuropeptide, encoded by the KISS1 gene, could have role in this regard.Objective and hypotheses: Considering t...

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...

Introduction: Patients with homozygous familial hypercholesterolemia (HoFH) suffer from this disorder from birth and they have abnormally high cholesterol levels due to a disease that has autosomal dominant inheritance of genetic aberrations in the coding region for low density lipoprotein receptors (LDLR) in more than 90% of cases, other gene defect includes mutations in apolipoprotein B100 (apoB100) and proprotein convertase subtilisin/kexin type 9 (PCSK...

Background: Infants referred with elevation of capillary TSH on newborn screening are classified as having transient TSH elevation when subsequently found to have normal venous thyroid function tests off treatment with thyroxine. Causes of transient TSH elevation include neonatal sickness, prematurity and maternal thyroid antibodies. There is little information on thyroid size in such infants.Objective: To determine thyroid volume by ultrasound in infant...

Backgrounds: The prevalence of congenital malformations (CM) is higher in infants referred with capillary (c) TSH elevation on newborn screening. However, establishing the prevalence of CM ± dysmorphic syndromes in true congenital hypothyroidism (CH) requires careful distinction between true and transient CH.Objective: To determine the prevalence of CM ± dysmorphic syndromes in all infants referred with TSH elevation on newborn screening in Sco...