ESPE Abstracts

Preterm babies born to non-diabetic mothers (INDM) who experience significant hypoglycemia may have postnatal growth abnormalities. This study evaluated the growth pattern from birth to the age of 2 years of 40 INDM who were born at or near term with significant hypoglycemia. Anthropometric measures (z scores) from birth, 2,4.6,12,18 and 2 years were measured in 40 INDM who presented with significant neonatal hypoglycemia (plasma value less than 20-25 mg/dl (1.1-1.4 mmol/l) th...

Background and Aims: Congenital hyperinsulinism (HI) is the most frequent cause of severe, persistent hypoglycemia in newborn babies and children. The disease may occur in isolation or can present as part of a syndrome. Routine screening of the known etiological genes (n = >20) identifies a disease-causing mutation in 40-50% of all cases. An accurate and timely genetic diagnosis is clinically important for all individuals as understanding the unde...

Background: Dual-specificity tyrosine phosphorylation-regulated kinase 1B (DYRK1B) is a nutrient-sensing protein that suppresses the RAS–RAF–MEK pathway and is known to have a role in glucose uptake and glycolysis. The expression of DYRK1B increases during adipogenic differentiation suggesting an important role in adipogenesis. Mutations in DYRK1B have been described in three Iranian families and five Caucasian patients w...

Background: The leptin-melanocortin pathway is pivotal in appetite and energy homeostasis. Pathogenic variants in genes involved in this pathway lead to severe early-onset monogenic obesity (MO). The MC4R gene plays a central role in the leptin-melanocortin, and variants predominantly heterozygous in this gene, are the most common cause of MO. We identified a novel heterozygous variant c.802T>C p.Tyr268His in the MC4R gene in two unrelated patients with mor...

Introduction: Graves’ disease (GD) is a leading cause of hyperthyroidism in all age groups. Clinical presentation, methods and overall goals of therapy can be variable in different age groups. We aimed to study the prevalence of GD, the attitude of treating physicians towards management preferences as well as patient response pattern amongst children and adolescents with GD in Saudi Arabia.Methods: A cross sectiona...

Introduction: Kenny-Caffey syndrome is a rare syndrome which is a primary bone dysplasia syndrome consisting of growth retardation with proportionately short stature, cortical thickening and medullary stenosis of the long bones, hypocalcemia from congenital hypoparathyroidism, and facial dysmorphism such as a prominent forehead, microphthalmia, and micrognathia. We report 13 years old with Kenny caffe syndrome who found to have a family history of the same pre...

Background: PHA is a rare, but life threatening condition, that usually presents with impressive hyperkalemia. It can be initially missed as congenital adrenal hyperplasia (CAH). We present a series of these patients to increase the awareness of treating physicians about misdiagnosis and pitfalls in management.Case Report: We admitted 4 cases in our institution between 2017-2021. Case one, three and four were all 7 days ...

Background: Monogenic early onset obesity is mainly due to pathogenic mutations in a single gene involved in the leptin melanocortin signaling pathway. This pathway is essential for satiety and energy homeostasis. Adenylate cyclase 3 (ADCY3) is a transmembrane protein localized in the primary cilia of neurons and plays a vital role in converting ATP to cAMP, a secondary messenger that regulates various downstream signaling pathways that control carbohydrates a...

Background: Bilateral inferior petrosal sinus sampling (IPSS) is the gold standard for determining the source of hypercortisolism in ACTH-dependent Cushing's syndrome. Traditionally, IPSS is performed with CRH stimulation. Since CRH has been unavailable recently, intravenous desmopressin administration may be preferred during IPSS.Case Report: A 13-year-old boy presented with a weight gain of 10 kg and a decreased h...

Introduction: Noonan syndrome (NS) is a dominant autosomal genetic disorder caused by a mutation in the RAS–MAPK pathway. The clinical manifestations usually reported in NS are short stature, pulmonary stenosis, cryptorchidism, hematological abnormalities and dysmorphic face.Patients and Methods: We studied the demographic characteristics, clinical presentations and treatment patterns associated with NS, integratin...