Endocrine Abstracts

Background: Turner syndrome (TS) comprises a group of sex chromosome anomalies affecting approximately 15,000 in the UK. TS affects every organ system in the body through haploinsufficiency of genes that are normally expressed by both X chromosomes. Common features include short stature, congenital heart diease and gonadal dysgenesis requiring long-term oestrogen replacement but the adult phenotype extends to excess risk of diabetes, hypertension and hepatosteatosis. UCLH has ...

Introduction/ objectives: Turner syndrome (TS) comprises a group of sex chromosomal abnormalities of heterogeneous clinical presentation. During the infant period, the pediatric endocrinologist coordinates their follow-up and it is important to ensure its continuation during the adult stage. The objective of this study is to know the current clinical situation, occupational, educational, social and medical monitoring of patients affected TS in Tenerife.M...

Context: Turner syndrome (TS) is associated with short stature, delayed puberty, primary ovarian insufficiency, infertility, and other features. The majority of girls with TS require pubertal induction and life-long oestrogen replacement therapy. There is paucity of data in adult TS on the efficacy of pubertal induction, such as breast satisfaction. Patient-related outcome measures (PROMs) assess the quality of care and treatment from the patient’s perspective. We have em...

Introduction: Kabuki syndrome (KS) is a rare congenital, multisystemic disorder caused by pathogenic variants of KMT2D or KDM6A genes, causing autosomal dominant KS type 1 (more than 80%) and X-linked KS type 2 respectively. The phenotype spectrum is highly variable, consisting of a mixture of any of the five cardinal features (facial dysmorphic features, skeletal defects, dermatoglyphic abnormalities, various degrees of intellectual and growth retardation) with structural dis...

Objectives: A retrospective review of adult patients with Turner syndrome (TS) attending a joint Turner syndrome clinic.Methods: Sixty-two adult patients with TS clinic were identified. Data was collected from case notes and electronic records.Results: Diagnosis was prenatal/at birth in 20%, 1–10 years in 29%, 11–20 years in 47% and after 21 years in one patient. Common presenting complaints were short stature (51%) and p...

Introduction: Two major strategies can be used to verify the diagnosis of ascending aortic dilatation in Turner syndrome (TS): the diameter of the aorta adjusted for body surface area (BSA) can be estimated or the ratio of the ascending/descending aorta may be assessed.Aim: To identify the difference of the prevalence of ascending aortic dilatation in patients with Turner syndrome by measuring the diameter of the ascending aorta adjusted for BSA and by e...

Introduction: The adult Turner Syndrome (TS) clinic at UCLH has collected data on over 800 women, attending for up to 20 years comprising over 8000 clinic visits. Data from this cohort forms the Turner Life Course Project. This large dataset allows analysis of pathogenesis of common chronic conditions including diabetes mellitus (DM) and hypothyroidism. There is some debate about the classification of DM associated with TS, with an over representation of up to 11-fold of type ...

Introduction and aim: Turner Syndrome (TS) is associated with a variety of morbidities affecting nearly every body system, and necessitates multidisciplinary management. To facilitate care, the International Turner Syndrome Consensus Group have drafted Clinical Practice Guidelines that were disseminated to ESE members in April 2017. The aim of this audit was to assess whether current management of adolescent and adult TS women in our care is in accordance wi...

Introduction: The adult Turner Syndrome (TS) clinic at UCLH has collected data on over 800 women, attending for up to 20 years comprising over 8000 clinic visits. Data from this cohort forms the Turner Life Course Project. This large dataset allows analysis of pathogenesis of common chronic conditions including diabetes mellitus (DM) and hypothyroidism. There is some debate about the classification of DM associated with TS, with an over representation of up to 11-fold of type ...

Introduction and aim: Turner Syndrome (TS) is associated with a variety of morbidities affecting nearly every body system, and necessitates multidisciplinary management. To facilitate care, the International Turner Syndrome Consensus Group have drafted Clinical Practice Guidelines that were disseminated to ESE members in April 2017. The aim of this audit was to assess whether current management of adolescent and adult TS women in our care is in accordance wi...