Endocrine Abstracts

Steroid profiling of biological fluids has been used for clinical and diagnostic research since the 1950s. Most methods focus on blood and urine, however, more recently saliva analysis has been employed as a non-invasive, simple to collect sample for the diagnosis of conditions such as Cushing’s and androgen excess. Despite its ease of collection, saliva remains an underutilised biofluid. To investigate the use of salivary steroid profiling for endocrine research, we aimed to ...

Cellular reprogramming describes the process where a fully differentiated, specialized cell type is induced to transform into a different cell. Cell reprogramming techniques can become powerful tools for modelling diseases, drug testing and for personalized cellular therapy. The adrenal cortex is the primary site of steroid synthesis. Adrenal insufficiency, which can be life threatening, is caused by a number of adrenal disorders, and lifelong management of these patients with...

Adrenocortical carcinoma (ACC) is a rare malignancy, but accounts for up to 11% of adrenal masses investigated in referral centres. Diagnosis remains a challenge. Up to two thirds are biochemically inactive, resulting from de facto enzyme deficiencies in the steroid hormone biosynthetic pathways, as shown by urine steroid profiling by gas chromatography-mass spectrometry. Increased metabolites of pathway intermediates in ACC discriminate it from benign adrenal lesions...

Context: Thyroid eye disease is disabling and disfiguring and has a substantial negative impact on quality of life. Medical therapies to reduce inflammation are widely used, but there is limited data from clinical trials beyond 6 months of follow-up. Methods: 3 year follow-up of a subset of the CIRTED trial (n = 68) which randomized patients to receive high-dose oral steroid with azathioprine/placebo and radiotherapy/sham radiotherapy. We compar...

Background: SARS-CoV-2 targets membrane-bound angiotensin-converting enzyme 2 (ACE2) to achieve cellular entry. Resultant loss of ACE2 function may lead to unregulated activation of the renin-angiotensin-aldosterone system (RAAS), contributing to the pathogenesis of hypertension and triggering a proinflammatory cascade. However, evidence to support this is conflicting, with either no change or an increase in the concentration of circulating aldosterone reported in patients wit...

Background: Type III hyperlipidaemia (T3HL) is characterised by equimolar increases in plasma triglyceride and cholesterol on an APOE2/2 genotype background and conveys a high risk of early-onset cardiovascular disease (CVD). Phenotypic penetrance of T3HL is <10% and precipitated by several endocrine/metabolic disorders such as obesity, diabetes and hypothyroidism. We explored the effect of triglyceride-raising polygenic score precipitating T3HL, in the context of...

Introduction: Congenital lipoid adrenal hyperplasia (CLAH) is rare and caused by mutations in the steroidogenic acute regulatory (STAR) gene, which is involved in a key step in the synthesis of pregnenolone from cholesterol. Cases typically present in the first days of life with severe adrenal crisis, salt wasting and severely disrupted androgen secretion which may result in sex reversal in 46, XY individuals.Case report: We present a 21-month-o...

Background: Polycystic ovary syndrome (PCOS) is a heterogenous condition that affects approximately 12% of females. The diagnosis can be complex and biochemistry tests are routinely relied upon to help identify hyperandrogenaemia and to exclude other conditions. However, although national and international guidelines advocate the use biochemistry tests, little information is provided as to which tests should be used and which other endocrinopathies should be excluded.<p cl...

Objective: Thyroid hormones are essential for maintaining metabolic balance and particularly influence lipid synthesis and degradation. Metabolomics and in-depth lipid profiling may enable us to assess for differential effects of thyroid hormones and provide insight into tissue thyroid status, that cannot be captured by levels of serum free thyroid hormones alone.Methods: 4,347 children from the Avon Longitudinal Study of Parents and Children who had thy...

Introduction: Around 15% of people diagnosed with primary hypothyroidism remain significantly symptomatic despite TSH normalisation with levothyroxine (LT4). The Thr92Ala substitution (rs225014) in a key deiodinase that activates T4 to T3, DIO2 may influence tissue levels of T3 but previous studies have been inconsistent regarding symptoms on LT4 and the presence of this polymorphism.Methods: We assessed HADS anxiety and depression scores in the HUNT2 st...