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...

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...

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: The diagnosis of Turner Syndrome (TS) must be included in the differential diagnosis of all girls with short stature. Despite overall earlier diagnosisand treatment there remain patients with TS who present late with delayed puberty.Although growth hormone (GH) is known to increase final height (FH) in girls with TS, little evidence exists on treatment in late-presenting girls.Objective and hypothesis: To assess the effect of late GH treatm...

Background: The investigation of short stature includes evaluation of a number of clinical, radiological, and biochemical factors. This often includes dynamic function testing to rule out abnormalities of the hypothalamic–pituitary axis to rule out GH deficiency (GHD). NICE guidance advises that two GH stimulation tests demonstrating subnormal GH peak <6.7 μg/ml (20 mU/l) is required to confirm the diagnosis of GHD.Objectives: To interrogat...

Background: Hypothalamic hamartomas (HH) are congenital, benign tumours consisting of disorganised neuronal cells within the hypothalamus. They usually present with precocious puberty, seizures, behavioural abnormalities, either in isolation or combined.Aims: To look at the endocrine outcomes of patients with HH.Methods: A retrospective casenote review of all patients diagnosed with HH over a 20-year period within a single endocrin...

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...

Background: The diagnosis of isolated GH deficiency (IGHD) is based on multiple factors: clinical, radiological and biochemical along with suboptimal peak GH levels demonstrated on dynamic testing. Recent guidance from the National Institute of Clinical Excellence (NICE; UK; 2010) advises that two GH stimulation tests must demonstrate a subnormal GH peak <6.7 μg/l (20 mU/l) to confirm the diagnosis of IGHD. In our centre, three different GH provocation tests are used:...