Endocrine Abstracts

Background: The COVID-19 pandemic led to major changes in the pattern of presentation to Emergency Departments. This prompted concern within Paediatrics that this altered behaviour could lead to delays in the diagnosis of life-threatening conditions such as type 1 diabetes. A multicentre study was conducted to determine the incidence, referral patterns and severity of disease at presentation of this condition. Methods: This was a U.K.-based multi-centre ...

Introduction: The uterus develops during puberty and increases not only in length but also in width and depth, to achieve a mature shape. Pubertal induction with exogenous oestradiol aims to mimic this. Research to date shows variable results for the attainment of an adult uterine configuration in females with hypogonadism. Suboptimal uterine development is hypothesised to be a contributing factor for adverse reproductive outcomes in females with hypogonadism undergoing egg do...

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 ...

In the clinic, glucocorticoids are widely used due to their anti-inflammatory properties. Despite their huge benefits, prolonged use is often associated with severe side effects as well as the development of glucocorticoid resistance in some cases. Mutations in an important SWI/SNF subunit, ARID1a, have previously been linked to glucocorticoid resistance and are associated with a vast number of human cancers. Determining the functional role of ARID1a...

Background: Transition from paediatric to adult services is a crucial process for young adults with long term conditions (LTC) affecting quality of life and engagement with medical services. The recent NICE report has outlined overarching principles for an effective transition. This can be a challenge for paediatricians and adult physicians as both hospital sites and medical/nursing teams can change. There is a dearth of evidence regardin...

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 ...

In the clinic, glucocorticoids are widely used due to their anti-inflammatory properties. Despite their huge benefits, prolonged use is often associated with severe side effects as well as the development of glucocorticoid resistance in some cases. Mutations in an important SWI/SNF subunit, ARID1a, have previously been linked to glucocorticoid resistance and are associated with a vast number of human cancers. Determining the functional role of ARID1a...

Background: Transition from paediatric to adult services is a crucial process for young adults with long term conditions (LTC) affecting quality of life and engagement with medical services. The recent NICE report has outlined overarching principles for an effective transition. This can be a challenge for paediatricians and adult physicians as both hospital sites and medical/nursing teams can change. There is a dearth of evidence regardin...

Case history: A 14.5-year-old girl was brought forward by her mother to the paediatric endocrine clinic in view of virilised genitalia, absent breast development and primary amenorrhoea. Her genital appearance had changed gradually throughout childhood though she never disclosed this to her parents. She was otherwise healthy with no significant family history of note. On examination, she had fused labioscrotal folds containing 10–12 ml testis. There was no obvious vaginal...

Background: Ages at first date and sexual encounter have been observed to be delayed in women with Turner’s syndrome (TS), with late presentation and delayed puberty induction being the main culprits. There is no equivalent data in women with premature ovarian insufficiency (POI).Objectives: We sought to assess whether age at start of oestrogen replacement therapy (ERT) and amenorrhoea status affected the age at first relationship and sexual experie...