ESPE Abstracts

Objectives: Achondroplasia (ACH) is a rare, genetic skeletal dysplasia, resulting in impaired endochondral bone growth and leading to multisystem complications. We aimed to estimate rates of non-skeletal complications in ACH patients compared with general population controls.Methods: Retrospective cohort study using UK Clinical-Practice-Research-Datalink (CPRD-GOLD), identifying an ACH cohort. Study index date was define...

Introduction: Achondroplasia is caused by a pathogenic mutation in the FGFR3 gene, leading to impaired endochondral bone growth and multiple medical complications. Vosoritide, a modified recombinant human C-type natriuretic peptide (rhCNP), was approved by the European Medicines Agency (EMA) in August 2021 for treating genetically confirmed achondroplasia in patients aged ≥2 years until closure of epiphyses. Acorn is the first treatment-based registry for a...

Introduction: Achondroplasia is caused by a pathogenic mutation in the FGFR3 gene, leading to impaired endochondral bone growth and multiple medical complications. Vosoritide (once daily, subcutaneous injection) has recently been approved by the European Medicines Agency (EMA) for treating achondroplasia in patients aged ≥2 years until closure of epiphyses. It has been made available in France via an early access program, a cohort Temporary Authorization fo...

Introduction: Achondroplasia is the most common skeletal dysplasia, in which the main clinical feature is short stature. Vosoritide, the first specific treatment for achondroplasia; administered as a daily subcutaneous injection, was approved by the European Medicines Agency in August 2021 for patients aged ≥2 years until closure of epiphyses. French Health Authorities granted early access to vosoritide treatment in France on 24 June 2021, which continued u...

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...

Introduction: Type 1 diabetes mellitus (T1DM) is commonly associated with other organ – specific autoimmune disorders. Autoimmune thyroid disease (AITD) is the most common comorbid autoimmune condition in patients with T1DM. The occurrence of both T1DM and AITD is defined as Autoimmune Polyglandular Syndrome type 3 variant (APS3v). We sought to clarify thyroid autoimmunity in a cohort of Malaysian patients with T1DM.Methods<...

Introduction: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. The aim of this study is to provide outcomes, namely growth, comorbidities and gonadal function in patients with 45,X/46,XY mosaicism.Methods: This was a retrospective, longitudinal study conducted from January 2006 to January 2021 at a tertiary pediatric endocrine referral center. Patients' clinical presentation, karyotypes, height, hormonal profiles, imaging and histologic fi...

Introduction: Pseudohypoparathyroidism (PHP) is a group of heterogenous disorders characterized by end organ resistance to parathyroid hormone (PTH) action. In 1942, Fuller Albright first described the phenotype of Albright Hereditary Osteodystrophy (AHO) associated with end organ hormone resistance (brachydactyly, rounded face, short stature, central obesity, subcutaneous ossifications, and variable degrees of mental retardation). Recently EuroPHP network pro...

Introduction: Klinefelter syndrome (KS) is most common sex chromosomal aneuploidy in males. The typical clinical features are tall stature with long extremities, small testis, and learning disabilities. Three M syndrome is an extremely rare genetic disorder characterized by short stature, craniofacial abnormality and skeletal malformations. We report a unique case of short stature in KS due to three M syndrome.Case: A 9-...

Background: Primary ovarian insufficiency (POI) is genetically mediated in up to 30% of cases. Many genes associated with POI have roles in early ovary developmental processes, including meiosis.Objectives: We investigated the genetic mechanism underlying early-onset POI in three young women presenting with absent puberty: two sisters from a consanguineous pedigree and a third unrelated proband.<st...