ESPE Abstracts

Introduction: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare, autosomal disorder characterized by deficiency of cortisol and oftentimes aldosterone, elevated adrenocorticotropic hormone (ACTH), and excess androgen production. In a phase 2 study of adolescents with classic 21OHD, 14 days of treatment with the corticotropin-releasing factor type 1 receptor (CRF1) antagonist, crinecerfont, led to median percent red...

Background: Late initiation of GH results in suboptimal adult height for many women with TS. In a landmark, randomized, controlled, clinical trial (“Toddler Turner” study) we showed that 2 y of early GH (ET group) started at 1.98±1.01 y, resulted in height SDS difference of 1.6±0.6 SDS vs. early untreated group (EUT).Objective and hypotheses: It was unclear if early height gains would result in taller adult heights, so patients were f...

Background: Somavaratan, a novel long-acting rhGH fusion protein with t1/2>100 h, previously demonstrated clinically meaningful improvements in height velocity (HV) and IGF-I in prepubertal GHD children (Moore JCEM 2016).Objective and hypotheses: To evaluate maintenance of somavaratan treatment effects in the 2nd treatment year.Method: After subcutaneous pediatric doses were evaluated in a single dose PK/PD study (<e...

Background: VRS-317, a novel fusion protein of rhGH exhibiting delayed clearance, serum half-life generally >100 h, and potential for once monthly dosing, was previously evaluated in a 6-month phase 1b/2a study of weekly, twice monthly or monthly dosing (5.0 mg/kg per month) in prepubertal GHD children (n=64).Objective and hypotheses: We evaluated whether increased VRS-317 dose from 12 to 18 months can offset the decrease in height velocitie...

Background: Several studies have investigated leptin and NPY levels in children, but the information for newborns in the literature is limited.Objective and hypotheses: The aim of this study was to determine leptin and neuropeptide Y (NPY) levels in between 14 and 28-days newborns.Method: This prospective study was performed in the Erzurum Atatürk University Medical Faculty Research Hospital Neonatal Clinic, Turkey, between Ju...

Introduction: Isodicentric Y chromosome[idic(Y)] is one of the most common structural abnormalities of the Y chromosome and has been observed in patients with disorders of sexual development. Most idic(Y) chromosomes are found in mosaic form with a 45, X cell line.Methods: The aim of this study was to investigate the genotype and phenotype variability of patients with idic(Y). The clinical data from five patients was ext...

Background: Turner syndrome (TS) is one of the most common chromosomal aberrations resulting from the total or partial absence of one of the X chromosomes in all or a portion of cells. The presence of genetic material of the Y chromosome in TS patients is a risk factor for the development of gonadoblastoma or dysgerminoma.Objective and hypotheses: The aim of this study was to detect the presence of fragments of the Y chromosome, which increase the risk o...

Introduction: Hypergonadotropic hypogonadism is mainly characterised by streak or dysgenetic gonads. It is primer gonadal insufficiency which occurs as a result of chromosome abnormalities, gonad developmental and steroid synthesis defects. However, Y microdeletions associated hypergonadotropic hypogonadism due to disorder of sexual development has been reported, there are no many studies. Moreover, it is not known enough to contribution for development of sexual ambiquity. Ai...

Background: Risk of developing germ cell tumors (GCTs) in disorders of sex development (DSD) patients with karyotypes contain Y-chromosome or it’s material (Y) increase with age. The appropriate timing for prophylactic gonadectomy in these patients is still controversial.Aim: To analyze the gonadal tumor incidence and histological assessment of gonads in DSD (Y) patients who were treated in a single institution between 1997 and 03/2018.<p class=...

Introduction: Derivative chromosome is a rearrangement involving two or more chromosomes or the presence of multiple abnormalities in a single chromosome and always contains intact centromere. Segmental anomalies such as inversion or translocation in derivative chromosome may result in partial duplication or deletion during meiosis. Chromosomal translocations usually result in miscarriage and multiple anomalies (common neurodevelopmental defects, growth retard...