ESPE Abstracts

Aim and Method: Achondroplasia is the most common form of short-limbed dwarfism, characterized by mutations in the FGFR3 gene. Vosoritide, a C-type natriuretic peptide analog, has shown promise in promoting linear growth in children with achondroplasia. This study aims to present the real-life experiences of using vosoritide in children diagnosed with achondroplasia.Method and Results: A prospective study was conducted o...

Background/aims: Pilocytic astrocytomas (PA) are low-grade neoplasms that affect the precortical visual pathway and are most commonly detected in children and adolescents, representing 2–5% of childhood central nervous system (CNS) tumours. Optic gliomas (OPGs) can occur sporadically, or in association with neurofibromatosis type 1 (NF1). We assessed the prevalence of endocrine dysfunction in children with PA and evaluated outcomes between subgroups of P...

Background: Human peroxisomal fatty acyl CoA oxidase 1, encoded by the ACOX1 gene, catalyzes the first and rate limiting step in the beta oxidation of straight chain fatty acids in the peroxisomes. Biallelic mutations in ACOX1 are associated with pseudo-neonatal adrenoleukodystrophy characterized by severe hypotonia, seizures, psychomotor retardation followed by neuroregression, and death in early childhood. To date, primary adrenal insuffici...

Down syndrome (DS) is the most common chromosomal disorder in live births (1/1500-1/700) and caused by a meiotic nondisjunction (trisomy 21). DS is associated with an increased risk of thyroid disorders in addition to other systemic problems. In this study, we aim ed to investigate the thyroid hormone profiles and associated autoimmune diseases in DS.Material and Method: DS patients, aged 0-18 years, who were followed for thyroid problem...

Background: Mutations in CYP21A2 are the most common cause of congenital adrenal hyperplasia (CAH). Even though disease linked mutations are rarely classified as founder, in this study, we describe a novel founder mutation, c.2T>C (p.M1?), inactivating the translation initiation codon.Objective and Hypotheses: We aimed to investigate genotype–phenotype correlation and population based origin of this novel mutation in CAH patients with 2...

Objective: The aim of this study was to evaluate demographic characteristics; clinical, laboratory, imaging features; and response to treatment of boys who were followed up and treated with the diagnosis of central precocious puberty (CPP) in Turkiye.Materials and Methods: The study was planned as a multicenter, retrospective study. Cases with a diagnosis of CPP, whose follow-up data were available were included. Patient...

Introduction: Automated insulin delivery systems provide significant improvement in the time in range(TIR) centered diabetes care. This study analyzes the real-word performance of Minimed 780G™system-Advanced Hybrid Closed Loop(AHCL) in children from a single center.Methods: Of the 93 children started to use AHCL between January 2021 and April 2022, 64 whose data could be accessed were included. 3,6,9 and 12 month-...

Background and Objectives: Enlargement and cystic changes in ovaries of patients with longstanding overt hypothyroidism has been observed in numerous case reports. But there is limited data about the effect of subclinical hypothyroidism (SH) on ovarian volume and ovarian cyst formation. We evaluated the relationship between serum thyroid stimulating hormone (TSH) level and ovarian volume and sonographic appearance in prepubertal girls with SH.<p class="abs...

Introduction: Isolated hypoaldestronism is a rare endocrinopathy in a limited number of patients who secrete normal level of cortisol, due to mutation in CYP11B2. In some cases clinical diagnosis can be late and genetic analysis showed difficulties.Case 1: A 7 month-old girl infant was referred to endocrinology department due to womiting, failure to thrive and severe hyponatremia with unexplained neutropenia. She was bor...

45,X/47,XYY mosaicism is quite rare, and, like 45,X/46,XY, it can be associated with mixed gonadal dysgenesis, Turner syndrome or apparently normal male/female phenotype. An infant aged 16 days, born full-term via spontaneous vaginal delivery to a 32 year-old G1P1 woman. His pregnancy and perinatal period were both uncomplicated except for maternal long QT syndrome. There was third degree cousin consanguinity between the parents. There was no any virilizing drug use and no mat...