Endocrine Abstracts

We present two patients with unusual manifestations of sarcoidosis and review gonadal involvement in this rare but important disease. A 27 year old man presented to the Ophthalmologists at our hospital with a red eye. He was diagnosed with anterior uveitis and commenced on topical corticosteroids. Following discovery of a testicular mass, he underwent testicular ultrasonography which demonstrated bilateral hyperechoic lesions. Histological examination of an open surgical biops...

Background: Patients with adrenal insufficiency (AI) require glucocorticoid replacement therapy. Current Endocrine Society guidelines recommend thrice-daily hydrocortisone (15-25mg) or once-daily prednisolone (3-5mg). Concerns around prednisolone use have been based on evidence using higher doses. We have been using low-dose (2-4mg) once-daily prednisolone since 2014 for glucocorticoid replacement in adult patients with AI. This study aimed to compare the effe...

Introduction: Disseminated fungal disease is an opportunistic infection mostly seen in immunocompromised patients, however, fungal thyroiditis in this context is rare, with few previously reported cases (predominantly Aspergillus, only one case of paediatric candida thyroiditis). We present a case of Candida tropicalis induced thyroiditis, to highlight this rare (likely underreported) cause of thyroid disease.Case: A 9-y...

Background: Adrenal cortical carcinoma (ACC) in children is a rare and aggressive disease. Further characterisation of the presenting features and biochemical markers are needed to support earlier diagnosis. Refractory hypertension related to high cortisol concentrations at presentation, and post-operative decrease in cortisol can be challenging to manage. Focus on endocrine management has not been previously described.Case Series: 34 patients (age 2 wee...

Objectives: Current provocative tests for GH deficiency (GHD) are neither 100% sensitive nor specific. GH neurosecretory dysfunction (NSD) refers to the presence of growth failure, normal stimulated GH responses, but impaired spontaneous GH secretion. We describe our experience in managing GHNSD over 7 years.Methods: We retrospectively reviewed a cohort of 106 children admitted for 12-h overnight GH profiles (with 20-min sampling) between 2010 and 2016. ...

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...

Background: Silver-russell syndrome (SRS; OMIM 180860) is a genetically and clinically heterogeneous low birthweight syndrome characterised by poor postnatal growth and a number of variable dysmorphic features. Small-for-gestational age infants in general have an increased risk of metabolic complications, some initially occurring in late childhood and adolescence.Objective and hypotheses: To identify (a) response to GH based on genotype and (b) developme...

Background: Pituitary dysfunction is a recognised consequence of traumatic brain injury (TBI) causing significant cognitive, psychological and metabolic impairment. Hormone replacement offers an important therapeutic opportunity. Blast traumatic brain injury (bTBI) from improvised explosive devices (IEDs) is commonly seen in soldiers returning from recent conflicts. We investigated: i) the prevalence and consequences of pituitary dysfunction following moderate-severe bTBI, and...

The UK newborn screening programme for congenital hypothyroidism (CH) facilitates prevention of neurodevelopmental delay in CH by enabling prompt diagnosis and treatment. Although the UK Newborn Screening Programme Centre (UKNSPC) defines a borderline bloodspot screening TSH (bsTSH) concentration as 10–20 mU/l, the lower cutoff used at Great Ormond Street Hospital (6 mU/l), enables diagnosis of true and transient CH in cases missed using UKNSPC criteria. We hypothesised t...

Introduction: Paired box gene 8 (PAX8) is a key transcription factor required both for normal fetal thyroid development and maintenance of the differentiated thyroid phenotype, mediating transcriptional activation of SLC5A5, TG, and TPO, and synergizing with NKX2-1 at the TG promoter. Heterozygous PAX8 mutations are a rare but well-recognized cause of congenital hypothyroidism (CH) due to thyroid dysgenesis (TD), and are classically associated with thyroid hypoplasia. However,...