Endocrine Abstracts

Introduction: The chondrodysplasias are a heterogeneous group of genetic conditions affecting growth and form of the skeleton. As genetic knowledge has improved and genetic testing has become increasingly available, we hypothesize that over the past 10 years there has been an increase in the number of children where a genetic diagnosis is reached.Aims: To ascertain if there had been an increase in the number of chondrodysplasias confirmed by genetic test...

Background: There are gaps in our understanding of the impact of conditions that affect sex development, such as DSD and CAH, on the parent and patient.Aims: The project aimed to explore whether patient reported outcomes (PRO), assessed by standardised questionnaires, could be integrated within routine paediatric endocrine clinic visits.Methods: Previous validated questionnaires were used to develop a parent Self-Report qu...

Introduction: Hypophosphatasia (HPP) is a very rare systemic musculoskeletal disease characterised by low tissue non-specific alkaline phosphatase (ALP). The prevalence of HPP and its associated morbidity in an adult setting is unclear.Methods: A search for serum ALP results less than 36 IU/l within NHS Greater Glasgow and Clyde between 2017 and 2018 revealed 16 280 results. A further search for patients with two ALP <36 separated by 30 days or more ...

Background: Diabetes mellitus (DM) affects nearly is reported to be present in approximately 8% of cases of elective hip arthroplasty and an HBA1c >53 mmol/mol may be associated with poorer outcomes in these cases.Aims: To understand the demographics of DM patients in Glasgow undergoing elective hip arthroplasty over a 6 year period between Jan 2009 and Dec 2015 and the rate of post-operative complications.Methods: Patients wer...

Introduction: Hypophosphatasia is a very rare inherited condition due to ALPL variants and is associated with a variable presentation.Case description: The index case initially presented at 7 months with bulging anterior fontanelle, failure to thrive and mild developmental delay. She was born at 34 weeks gestation and had amniotic bands causing digital anomalies. She was sitting at 8 months, crawling by 15 months and a hearing test was normal. A...

Introduction: Evaluation of XY DSD requires a combination of endocrine and genetic tests. It is unclear whether these two sets of investigations should be performed stepwise or in parallel.Aims: The aim of the study was to document the range of endocrine and genetic abnormalities identified in all XY boys who were investigated at one specialist multidisciplinary service.Methods: Case records were reviewed to collect information fro...

Introduction: Disorders of Sex Development (DSD) can be associated with an increased risk of germ cell tumours depending on the underlying diagnosis. To date however knowledge regarding the indications and timing of gonadectomy is lacking.Methods: The I-DSD Registry was interrogated for anonymised information regarding the diagnosis, karyotype, sex of rearing and timing of gonadectomy, if undertaken, of all individuals of any karyotype who were over the ...

Background: The reported occurrence and management of acute adrenal insufficiency–related adverse events in children vary widely between centres and may depend on available resources.Methods: Real world data from the I-CAH Registry from 44 centres [32 from high income (HIC) and 12 from low/middle income (LMIC) countries] and a total number of 607 children were linked to the results of a health care survey of local r...