Endocrine Abstracts

Introduction: In paediatric practice hydrocortisone (HC) is frequently prescribed in doses of ≤2.5 mg. HC tablets are only available in 10 mg strengths or as 2.5 mg Corlan pellets, a formulation designed for oro-mucosal delivery. Thus, tablets are segmented to obtain an appropriate dose. This study examines the accuracy of obtaining 2.5 mg HC doses from quartered tablets.Materials and methods: Of 10 mg Hydrocortone tablets were studied. Weight unif...

Introduction: There has recently been a suggested link between central adrenal insufficiency and the high rate of sudden death in children and adolescents with Prader–Willi syndrome (PWS). This finding has important implications for PWS management, since steroid cover could exacerbate the existing tendency towards obesity. We have retrospectively examined our data for both mortality and pituitary–adrenal axis status in subjects attending the dedicated PWS clinic at t...

Background: PHID syndrome has been recently described as a unique syndrome characterised by pigmented hypertrichosis; non immune mediated insulin depended diabetes mellitus (DM). Other associated features of the syndrome include pancreatic exocrine insufficiency, short stature and hypogonadism.Aims: To identify the genetic basis of PHID syndrome in six patients from five unrelated families and to characterise the endocrine features associated with this s...

Background: Holoprosencephaly (HPE) is a brain malformation that results from a defect in the patterning of the forebrain. Children with the most severe forms of HPE have endocrine deficits, in addition to neurologic and visual impairment. Forebrain abnormalities and pituitary hormone deficiencies are also part of the clinical spectrum of septo-optic dysplasia (SOD).Aim: Describe the spectrum of endocrinopathies in children with HPE and compare their cha...

Introduction: Post-traumatic hypopituitarism (PTHP) is a recognised sequel of traumatic brain injury (TBI), occurring in 25–69% of adult patients, but there are few data on the prevalence or natural history in childhood. Our aim was to determine pituitary function in children at least 4 years after TBI requiring paediatric intensive care unit (PICU) admission. At the same time body composition was evaluated.Methods: Children discharged from the regi...

Introduction: A previous case-report described one individual whose significant sleep disturbance in association with septo-optic dysplasia (SOD) was corrected with melatonin administration. Subsequently a trial of melatonin treatment in children with SOD and sleep disruption has become accepted clinical practice in many centres. There are however no published data describing melatonin secretion in these individuals.Methods: We studied six children with ...

Introduction: Thyroid imaging is of proven help in establishing a diagnosis of congenital hypothyroidism in newly referred infants. Radio-isotope and/or ultrasound imaging is commonly used; each has weaknesses but have complimentary strengths and thus have been used in combination in our centre since 1999. We undertook a retrospective review and analysis of ultrasound imaging in infants with proven thyroid ectopia to re-examine the diagnoses.Patients and...

Introduction: Factors determining remission and relapse in children with thyrotoxicosis include ethnicity, age and thyroid hormone levels at diagnosis. We investigated if similar factors influence remission and relapse in a contemporary cohort of children with autoimmune thyrotoxicosis treated by dose titration of carbimazole.Methods: Forty-seven children (39 females) with thyrotoxicosis, treated with carbimazole, were followed up for ≥2 years. Ini...