ESPE Abstracts

Aim of the study: To evaluate the clinical characteristics and treatment efficacy of patients with severe primary IGF-1 deficiency (PSIGFD) using a recombinant IGF-1 (rhIGF-1).Objectives of the study: To examine the clinical characteristics of patients with PSIGFD before starting treatment with a rIGF-1. To assess the height changes in patients with PSIGFD, before and after treatment with a rhIGF-1. To analyze the clinic...

Introduction: Noonan syndrome-like syndrome with loose anagen hair (NSLH) is a RASopathy due to a missense mutation in the SHOCK2 gene. NSLH is distinguished by facial dysmorphisms, growth retardation, various neurocognitive impairment, and cardiac defects. Extremely short stature is frequently observed in patients with SHOC2 gene mutation. Treatment by growth hormone (GH) due to moderate GH deficiency or IGF-1 due to GH insensitivity may be insufficient. We r...

Introduction: Hashimoto's autoimmune thyroiditis is the primary cause of acquired hypothyroidism, with encephalopathy being a rare complication, particularly in children. Early and accurate diagnosis is crucial, as appropriate treatment is usually successful, while untreated cases can result in permanent impairment.Case presentation: A 17-year-old girl complained of numbness on the right side of her body and tongue,...

Introduction: PTEN hamartoma tumor syndrome (PTHS), a rare genetic disorder, increases the risk of endocrine-related benign and malignant tumors like thyroid, endometrial, breast, and kidney tumors, as well as syndromes like Cowden syndrome (CS), which can cause genodermatosis. The MUTYH gene increases colon cancer risk. Pathogenic MUTYH and PTEN gene variants are autosomal dominantly inherited and 50% likely to pass on.<p class=...

Objective: Patients with congenital adrenal hyperplasia (CAH) seldom achieve their target height. Early adrenarche may accelerate bone age maturation and affect adult height. The QEPS-growth-model have been used for developing growth references and investigating healthy/pathological growth, however, not before used in individuals with endocrine disorders. This study aimed to evaluate growth patterns in CAH-patients with the QEPS-model.<s...

Introduction: The main reason for Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is to prevent adrenal insufficiency that can lead to life-threatening conditions. On the other hand, screening programmes are not always sensitive and effective enough to detect the disease. We aimed to evaluate the specificity, sensitivity and efficiency of the national NBS for CAH in Lithuania.Methods: retrospective study...

Background: Mutations in PROP1 are the most common known genetic cause of congenital multiple pituitary hormone deficiency (MPHD).Objective and hypotheses: Aim of our study was to clinically and genetically characterize a cohort of Lithuanian patients with MPHD.Method: Seventy-six Lithuanian MPHD patients were tested for PROP1 gene by Sanger sequencing. Hormonal investigations, pituitary imaging and GH therapy wer...

Background: Reaching a definitive diagnosis in individuals with XY DSD is challenging and the time taken to reach a diagnosis is an important clinical benchmark that has not been sufficiently explored in this group of conditions.Objective: To evaluate the diagnostic process with a focus on the time to diagnosis in children with XY DSD reported via the e-reporting platform (e-REC) of the European Registries for Rare Endoc...

Introduction: Congenital hyperinsulinism (CHI) is a group of rare endocrine disorders characterized by repeated episodes of hypoglycemia caused by an excessive insulin secretion from the pancreas beta cells. The etiopathogenesis, phenotype, treatment, and prognosis of individual CHI cases are variable and not completely described.Aims: To gather and describe clinical and genetic data about CHI cases diagnosed within the large EuRRECa net...