Endocrine Abstracts

Background: The recently published ‘Consensus on Criteria for Cure of Acromegaly’ (Giustina et al. JCEM, 2010) highlighted concerns regarding the quality of currently available insulin-like growth factor 1 (IGF1) immunoassays which may contribute, at least in part, to the discordance between GH and IGF1 that is observed in up to 30% of patients with acromegaly after treatment. The development of mass spectroscopy (MS)-based technology has been proposed ...

Adenomyosis is an oestrogen-dependent uterine disease where ectopic, non-neoplastic endometrium is histologically observed within the myometrium. Its incidence ranges between 5 and 70% and although presenting symptoms; menorrhagia (40–50%), dysmenorrhoea (10–30%) and metrorrhagia (10–12%) are well known, its aetiopathology remains unclear. The neurotrophin, nerve growth factor (NGF), has been implicated in the aetiopathology of adenomyosis, especially in the tam...

Background: Single-nucleotide polymorphisms (SNPs) allow us to study effects of genetic variation on thyroid hormone levels. Phosphodiesterase 8B (PDE8B) is a protein responsible for cAMP generation, found in thyroid and brain tissue, but not normal pituitary tissue. Variation at this locus has been reported to influence TSH levels, but its effect on T3 and T4 had not been studied in the general population. Deiodinase 1 (DIO1) is known to influence T...

As thyroglobulin antibodies (TgAb) are a well recognised cause of interference in thyroglobulin (Tg) immunoassays current guidelines recommend that TgAb should be measured concurrently with Tg when monitoring thyroidectomised thyroid cancer patients. However the concordance between different TgAb assays has been questioned despite the availability of an International TgAb Reference Preparation (MRC 65/93).Four commonly used TgAb assays were tested in 145...

Mitotane (o,p’DDD) is an effective oral adrenolytic agent for treatment of advanced adrenocortical carcinoma (ACC). Inhibition of cortisol biosynthesis has been described. Cortisol metabolic clearance rate is unchanged, but decreased cortisol biovailability is indicated by increased dose requirement for hydrocortisone replacement during mitotane treatment. Urinary excretion of common cortisol metabolites (CM) has been reported to be normal but with increase of 6β-hyd...

Metyrapone (MT) is used in the medical management of Cushing’s syndrome as it decreases serum cortisol (CT) levels by inhibiting adrenal β-hydroxylation of 11-deoxycortisol, the final step in CT synthesis. CT precursors, in particular 11-deoxycortisol (DOC), increase following MT therapy. Monitoring glucocorticoid replacement in patients taking MT could therefore be confounded as DOC cross-reacts in commonly used immunoassays (IA) for serum CT. Serum CT results from ...

The glucocorticoid receptor (GR) is a member of the nuclear hormone receptor superfamily that acts as a hormone responsive transcription factor. GR function is controlled by hormone binding, post-translational modifications and through interaction with cofactors. Here, we report that JNK dependent phosphorylation of GR affects its sumoylation. JNK activation by UV radiation that targets GR for phosphorylation at serine 246 (S246) facilitated subsequent GR sumoylation at lysine...

Introduction: Congenital adrenal hyperplasia (CAH) is an inherited disorder, most commonly caused by enzymatic deficiency of 21-hydroxylase (CYP21A2). The non-classic or late-onset form is one of the most common autosomal recessive diseases in women, but the diagnosis is only rarely made in men unless they happen to present with testicular or adrenal masses or infertility.Case report: A 65-year-old man presented with recurrent episodes of postural dizzin...

Introduction: It is not known if non-alcoholic fatty liver disease (NAFLD) predates type 2 diabetes. We will study the prevalence of NAFLD in women with previous gestational diabetes (GDM), a population at ≥60% risk for the development of type 2 diabetes, while glucose tolerance is non-diabetic. It is not known if hepatic fat accumulation in NAFLD is disproportionate to fat accumulation in other tissues. We aim to study the association between fat in the liver and in tis...

Background: Virilising congenital adrenal hyperplasia (CAH) is the most common cause of genital ambiguity, and 90–95% of CAH cases are caused by 21-hydroxylase deficiency. Associated inefficient cortisol synthesis results in increased CRH and ACTH levels, leading to production of excess sex hormone precursors. These are further metabolized to active androgens and to a lesser extent oestrogens. We recently reported that one of these androgens, DHEA-S or its metabolites sig...