ESPE Abstracts

Introduction: Although, there are several studies that use the external masculinisation score (EMS) for numerical description of the external genitalia in infants with DSD, data on change in EMS in the routine clinical setting are lacking.Objectives: To determine the longitudinal change in EMS and its determinants in a cohort of boys with XY DSD in one specialist centre.Methods: Ob...

Introduction: Adrenal insufficiency (AI) represents a severe deficiency in the synthesis and release of cortisol and/or aldosterone. The prevalence of primary/secondary AI is estimated to be 20–50 per 100,000 individuals across Europe. However, data on its prevalence in Central Asia (CA) remains unknown. Kazakhstan is a geographically large CA country with a population of 20 million people. This contributes to the sparse distribution of specialized outpa...

Background: To understand the quality of information that is available in the I-DSD Registry (https://sdmregistries.org/), this study aim ed to understand the extent of information that is available on the phenotype of the external genitalia in males that have been included with a condition associated with a suspected hypogonadal state and DSD.Methods: A total of 3,248 m...

Introduction: Recent studies point to the existence of androgen-responsive non-coding (nc) RNAs in peripheral blood mononuclear cells (PBMC) RNA.Aim: To quantify the androgen-responsive gene expression of SNORD5 and RNY5 and investigate their relationship to the testosterone (T) rise following hCG stimulation in boys with no genetic evidence of androgen insensitivity.Methods: 19 bo...

Introduction: The external masculinisation score (EMS) has been utilised as an objective numerical description of the external genitalia in undermasculinised patients with DSD in several studies. However, data on longitudinal change in EMS in the routine clinical setting are lacking.Objectives: To determine the longitudinal change in EMS and its determinants in a cohort of boys with XY DSD in one specialist centre.<p...

Introduction: Among Disorders of Sex Development (DSDs), XY DSD, represents the most challenging group in terms of identifying a diagnosis.Objectives: The aim of the study was to determine the prevalence of biochemical and molecular genetic tests in a cohort of boys with XY DSD and to collate the phenotypes of patients with results of laboratory investigations and presence of associated abnormalities.Methods: New and existing cases...

Background: Rare disease registries provide rich longitudinal data on patients with rare conditions that can be used for research. Those charged with access to data must safeguard the process, but also have a good oversight of the available data to be able to work with researchers to realistically assess whether there will be adequate data available to answer specific research questions. Data access committees would benefit from a pragmatic method of rapidly a...

Introduction: The degree of consistency between the findings from next generation sequencing (NGS) and detailed endocrine assessment is unclear in boys with XY DSD.Objectives: Examine the range of endocrine and molecular genetic variation in boys undergoing evaluation for XYDSD.Methods: Boys with XYDSD who were evaluated in Glasgow from 2016 to 2018 were included. Sequence variants...

Introduction: Advances in diagnostic capability in the field of DSD hold great promise but need a regular review.Objectives: To study the range of endocrine and molecular genetic variation in a group of boys undergoing investigation for XY DSD.Methods: 157boys with median age of 0.9yrs (range,0,18) evaluated by the DSD Diagnostic Board in Glasgow from 2016to 2021 were included. Seq...

Introduction: Hypogonadotropic hypogonadism (HH) is a rare condition, where a definitive diagnosis is often hard to reach.Objectives: To describe the clinical, biochemical and genetic findings in cases with suspected HH in the West of Scotland who were referred for genetic analysis between 2016 and 2020.Methods: Information was collected on clinical assessment including family hist...