ESPE Abstracts

Background: Neonatal Diabetes Mellitus (NDM) is a rare monogenic disease with an incidence of 1/21000-300 000 live births, increasing with consanguinity. NDM presents with hyperglycemia from the 1st few days till 6 months of life. Few cases start between 6 to 12 months or later. NDM is divided into transient (TNDM) and permanent (PNDM). TNDM type 1 is caused by mutation at 6q24 whereas TNDM type 2 is mainly caused by mutation in K-ATP channel genes ...

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: The physiological process by which vitamin D regulates calcium and phosphorus metabolism, the major mineral constituents of bone tissue, is by far very well understood. However, the clinical implementation of vitamin D deficiency on bone fragility in childhood remains controversial.Objective: The aim of this case-control study is to investigate the prevalence of vitamin D deficiency among Lebanese children who experienced a ‘low-energy...

Background: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous disorder, which remains a clinical diagnosis. The Netchine-Harbison clinical scoring system (NH-CSS), recently adopted by the first international consensus on SRS, defines SRS with at least 4 of the 6 following criteria: born SGA, postnatal growth retardation, relative macrocephaly at birth, prominent forehead, body asymmetry and early feeding difficulties. It is related to 11p15 ICR1 loss ...

Background: GH treatment in childhood is proven to increase adult final height in many indications. In Lebanon, no other study was done to evaluate the response to GH treatment.Objective and hypotheses: Identify the prevalence of each indication and evaluate the annual response to treatment based on growth velocity, bone age (BA), bone age on height age (BA/HA) and bone age on chronological age (BA/CA).Method: The population is 50 ...

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...

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...

Background: Silver-Russell syndrome (SRS) (mainly secondary to 11p15 molecular disruption) and Temple syndrome (TS) (secondary to 14q32.2 molecular disruption) are imprinting disorders with very close phenotypic (prenatal and postnatal growth retardation, early feeding difficulties, early puberty) and molecular anomalies. Our objective was to describe the clinical overlap between SRS and TS and to extensively study the molecular aspects of patients with 14q32.2 molecular disru...