ESPE Abstracts

Healthcare transition (HCT) from paediatric to adult care is essential for many chronic illnesses and aims to improve patient outcomes, quality of life, treatment adherence and to encourage disease self-management. The adolescent health care clinic (AHCC) at King Abdulaziz Medical City (KAMC) in Jeddah, Saudi Arabia, was established in March 2018. Adolescents aged 14 to 18 years with a variety of endocrine disorders, such as adrenal disorders, puberty-related issues, bone dise...

Introduction: Sanjad-Sakati-Syndrome (SSS), or hypoparathyroidism-retardation-dysmorphism syndrome (HRDS), is primarily observed in individuals of Middle Eastern descent due to a recessive founder mutation in exon 3 of the TBCE gene. Little is known about disease evolution, endocrine features, management and cause of early death.Aim: To gain better understanding of growth, full phenotypic spectrum, endocrine fea...

Background: Short stature is a prominent complaint for which children are referred to pediatric endocrinologists. Data on short stature is lacking in the Arab states in the gulf region despite the fact that treatment is easily accessible. The study aimed to describe the referral pattern, baseline characteristics, and etiological profile of children referred with short stature to a pediatric endocrine clinic in Kuwait.Method: This is a cross-sectional ret...

Introduction: Congenital Adrenal Hyperplasia (CAH) is a chronic disease that requires life-long hormonal replacement therapy. Growth of patients with CAH can be affected by this therapy or the hyperandrogenic effect of the disease. In this study, we aimed to assess the potential effect of CAH and its therapy on final height in Saudi affected patients.Methodology: This is a retrospective cohort study from two tertiary end...

Background: Familial Hypercholesterolemia (FH) increases the risk of atherosclerosis, leading to early cardiovascular disease (CVD) and death at a younger age. Therefore, this study aims to describe the clinical characteristics of FH patients, assess the outcome of adopting reverse cascade screening, and describe the complications and rate of mortality in FH cases followed at our center.Methods & Materials: This is a...

Background: Patients with osteogenesis imperfect (OI) present with various degrees of short stature and nutritional disorders.Objective and hypotheses: To evaluate anthropometric and nutritional parameters in OI children and their variability among various types.Methods: Eighty-four patients with OI (types I, II, and IV) were subjected to the following anthropometric measurements: standing height (Ht), sitting height (SH), arm span...

McCune-Albright syndrome is a rare, sporadic disorder defined by the triad of café-au-lait spots, fibrous bone dysplasia, and endocrinopathy. The diagnosis is often made on bone or endocrine involvement, but must be suspected on the particular morphology of café-au-lait spots. We report a case of McCune-Albright syndrome diagnosed on these cutaneous signs and precocious puberty. This is a 4.5-year-old girl referred by a gynecologist for a pediatric endocrinology ...

The syndrome of thyroid hormone resistance (THR), is an inherited condition that occurs in 1 of 40,000 live births characterized by a reduced responsiveness of target tissues to thyroid hormone due to mutations on the thyroid hormone receptor. We report the case of a girl who presented at 18 months of age with growth retardation persistent tachycardia and chronic diarrhea, serology testing for coeliac disease was negative. Serum levels of total and free T4 and T3 were elevated...

Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns, in Algeria newborn screening programs do not exist, untreated CH remains a significant health and societal challenge. We report the case of a girl of 12 years old reffered for a failure to thrive, speech deficit and persistant vomiting, On clinical examination her height was –3 SDs with a very delayed bone age and a BMI of 35kg/m2 associated with severe musculoskeletal deformities and cog...

Introduction: Type 2 diabetes (T2D) is defined as insulin resistance associated with a progressive insulin-secretory defect, its incidence in the pediatric population has increased in parallel with the global increase in obesity.Objectives: The objectives of our study are to determine the frequency of T2DM in our consultation and to identify the diagnostic circumstances as well as the therapeutic modalities.<p class=...