Endocrine Abstracts

Whilst some hormones are secreted constantly, others have diurnal (eg. cortisol and androgens) and pulsatile (eg. growth hormone) secretion. As a consequence they require dynamic function tests to stimulate their production. It is worthwhile remembering that background data is not only limited but also often historical, going back over many decades. Often different units have different tests, assays & also cut-offs, which make comparison difficult. In a previous national a...

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Introduction: CHARGE syndrome is a multi-organ disorder; 67% have mutations in the chromodomain gene CHD 7. Endocrine abnormalities are increasingly recognized and we report our experience in a tertiary endocrine unit.Methods/Study design: Children with CHARGE syndrome attending endocrine clinic were identified and data collected retrospectively from medical notes.Results: 31 patients (13 females) were identified. Mean age was 10.5...

There is now evidence that patient choice in GH device not only improves adherence with GH therapy, but in addition is associated with improved height velocity (Kapoor et al. 2008). In order to find out how common free patient choice is for those commencing GH therapy, and how choice is provided, a questionnaire was sent to all members of the BSPED.A total of 38 questionnaires were received, including from 19 Health Services Human Growth Hormone C...

Background: It is recognised that the incidence of type 1 diabetes mellitus (T1DM) is increasing in the United Kingdom, especially in young patients (<5 y). Although seasonal variation in the onset of T1DM, with autumn and winter peaks, and also in the month of birth has been described, it was our perception that new patients were presenting throughout the year to our unit.Methods: Data was available on 440 newly diagnosed cases of TIDM, (100, 173 an...

Introduction: Central precocious puberty (CPP) is rarer in boys than girls, therefore evidence is limited for interpreting LHRH testing in boys. Current recommendations also suggest use of basal LH.Objectives: i) Test efficacy of using basal LH and testosterone for predicting CPP in boys. ii) Establish diagnostic cut-offs for LHRH testing in boys.Method: Retrospective data collection of LHRH test results in 67 boys aged 2–10 y...

Introduction: The easypod™ Connect Observational Study (ECOS) was a global study with easypod™, an electronic injection device for recombinant human growth hormone (r-hGH; Saizen®). This study aimed to assess adherence and growth outcomes of patients treated with r-hGH via easypod™ in the UK-based ECOS cohort (NCT01263457).Methods: Patients aged 2–18 years, with ≥3 months of easypod™ data after enrolment int...

Introduction: Arthrogryposis multiplex congenita is a rare congenital disorder characterised by multiple joint contractures. The association with hypopituitarism has only been reported once before. We report two further children with multiple pituitary hormone deficiencies (MPHD) and arthrogryposis.Case reports: Case 1: this 12-year-old girl was born to consanguineous parents; a previously affected sibling had died. She was dysmorphic with multiple joint...

Introduction: National Standards and Guidelines for referral of presumptive cases of congenital hypothyroidism (CHT) were developed in 2005 by the UK newborn bloodspot screening (NBS) programme centre (UKNSPC). The standards are being revised and NBS lab experience was explored as part of this process.Methods: A short questionnaire was circulated to all 16 UK NBS laboratories. The information requested included details of referral pattern in the event of...

Introduction: Septo optic dysplasia is a triad of conditions, which include MPHD, IGHD and ONH. We have analysed data in our regional cohort primarily focusing on MRI brain scans.Patients and methods: MRI scans of the brain including T1/T2 weighted high resolution images in children with a diagnosis of septo optic dysplasia (SOD (N=38)), multiple pituitary hormone deficiency (MPHD (N=19)) and isolated GH deficiency (IGHD (n=14)) (tot...