ESPE Abstracts

Introduction: Blood transfusion and iron chelation are conventional treatments for β-thalassemia (BTM). Malnutrition affects the growth, efficacy of treatments, and quality of life in children suffering from BTM.Objective: To evaluate the prevalence of malnutrition (BMI < 3rd centile for age and sex) or BMISDS < -2 in 10 Mediterranean and Middle east countries and the USA in the past 20 years.  <p c...

Background: Congenital nephrogenic diabetes insipidus is a rare disease that is sometimes diagnosed after failure to thrive or febrile illness during infancy. Long-term habitual polydipsia to compensate for polyuria is sometimes difficult to distinguish from habitual polydipsia and polyuria or compulsive drinking.Case: The case is a 10-year-old girl. Her father was diagnosed as having congenital nephrogenic diabetes insi...

Introduction: A recent review from 14 Mediterranean and Middle East countries (n=4477, mean age = 16.5 years) showed that the pooled prevalence of delayed puberty / hypogonadism in patients with BTM was 45.6%.Objectives: We reviewed the literature (Pubmed, Google scholar, Scopus, Research gate) (1995: 2022) on the consequences of hypogonadism and benefits of Sex Steroid therapy (HRT) in children and adolescents ...

Introduction:Blood transfusion and iron chelation are conventional treatments for β-thalassemia (BTM). Malnutrition negatively affects their growth, efficacy of treatments, and quality of life.Objective: To evaluate the nutritional status and linear growth in 10 countries in the past 20 years.Methods: We performed an electronic search in PubMed, Google Scholar, and Web of Scie...

Background: Pseudohypoparathyroidism (PHP) is a condition primarily caused by impaired hormonal signaling through the stimulatory G protein (G2 alpha) for the activation of adenyl cyclase, which is coupled to G protein receptors(1). This occurs due to the molecular defects in the receptors related to the alpha subunit. (1–3). The condition results in resistance to Parathyroid hormone (PTH) and other hormones. Less than 60 cases have been reported worldwi...

Introduction: Autoimmune polyendocrinopathy type 1, or APECED syndrome (Autoimmune Polyendocrinopathy Candidiasis EctodermalDystrophy), is a genetic disease with a juvenile onset, associating chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency of autoimmune origin. It is a rare disease, more common in certain populations due to inbreeding or a founder effect such as in Finland where its prevalence has been estimated at 1/25,000....

Introduction and Aims: Autosomal dominant hypocalcemia or type V Bartter syndrome is characterized by hypocalcemia, low parathyroid hormone (PTH), and calciuria, which marks its prognosis due to the risk of nephrocalcinosis. It is caused by activating mutations in the calcium-sensing receptor (CASR) gene (3q21.1), which is expressed in the parathyroid and renal tubules, causing salt and potassium loss, due to the inhibition of the ROMK and NKCC2 channels. We s...

Celiac Disease is being increasingly recognised among Asians, but the spectrum of presentation may differ from that of Caucasian populations. The clinical phenotypes of celiac disease and diseases of gluten intolerance have not been well studied in Singaporean patients. We describe the clinical, biochemical and genetic phenotype of each seropositive individuals from a single private sector paediatric endocrinology clinic in Singapore over the period 2008 to 2020. These 67 pati...

Endocrine complications are common among children who have finished their cancer treatment. Approximately half of those children will experience at least one hormonal disorder. The risk of endocrine deficiency is related to the child's gender and age, tumor location and therapies used (surgery, chemotherapy or radiation therapy).Aim of the study: To address the main endocrine abnormalities following cancer therapies that occurs late...

Introduction: Hypoglycemia due to Congenital hyperinsulinism is a phenotypically heterogeneous disease. Depending on the cause it is most frequently seen in the neonatal period but it can present later in life, with risk of neurological complications in the event of late diagnoses.Clinical Case: Patient with a normal perinatal history, born at 40 weeks, weight 3600 grams and 50.5 centimeters of length. Because caf&eacute...

Introduction: Mucopolysaccharidoses (MPS) are lysosomal storage diseases. The frequency of endocrinological problems such as osteoporosis and hypothyroidism among children with MPS is not known and there are limited studies. In this study, the clinical findings, bone health and other endocrine functions of patients with MPS diagnosis and access to current treatments were retrospectively evaluated.Materials and Methods:Th...