Endocrine Abstracts

Prostate cancer development and progression depend on androgen signaling through the androgen receptor (AR). Recent evidence indicates the continued presence of intratumoral dihydrotestosterone (DHT) during androgen deprivation therapy drives prostate cancer recurrence through the activation of AR. There are ongoing efforts to identify drugs that target AR and enzymes that catalyze the synthesis of testosterone and DHT. Temporary remediation of prostate cancer by surgical or m...

Prolactin is present in serum in a variety of forms defined by different molecular masses. Macroprolactin is the best-known variant, a high molecular mass (150–170 kD) form of prolactin usually representing a prolactin–IgG complex which reacts in immunoassays causing apparent hyperprolactinaemia. Big-prolactin is a smaller high molecular mass (50–60 kDa) form of prolactin found more commonly than macroprolactin; however, the origin and significance of big-prolac...

Macroprolactin is a high molecular weight IgG-prolactin complex which has reduced bioactivity. Macroprolactinaemia is a relatively common phenomenon, accounting for upto 20% of cases of hyperprolactinaemia in clinical practice; in the absence of amenorrhoea or hypogonadism these patients do not usually need dopamine agonist therapy. To ensure appropriate detection and management of such patients we routinely screen all serum samples with hyperprolactinaemia (>600 mU/l) for ...

Objectives: In the UK the majority of young people presenting for the first time with signs and symptoms of type 1 diabetes (T1D) are initially seen by general practitioners (GPs). Mis- or delayed diagnosis is not uncommon, and it increases the risk of diabetic ketoacidosis-related morbidity. This study seeks to identify the specific challenges faced by GPs in this setting in order to develop effective care pathways and recommendations for improving the timely diagnosis of T1D...

Temple syndrome is due to loss of methylation at 14q32. Features are prematurity, low birth weight, hypotonia, feeding difficulties, short stature and early puberty, as well as small hands and feet, mild learning disability and variable obesity. We report monozygotic twins with Temple syndrome. Twin1 was born at 31+2 weeks with mild SGA (1120g, <10th centile), head circumference 27 cm, undescended testes, severe hypotonia and laryngomalacia. He developed camptod...

Objective: Impaired linear growth is a common complication of end stage renal failure (ESRF), with recombinant human growth hormone (rhGH) being the suggested treatment until renal transplantation (RTx). Growth improvement post RTx has been reported, however data on the degree of catch up growth post RTx and final height (FH) is limited. We aimed to evaluate the effect of RTx on FH standard deviation score (SDS) and the possible contributing factors.Meth...

Introduction: Childhood Adrenocortical tumours (ACTs) are rare neoplasms of the adrenal glands, accounting for 0.2% of all childhood cancers. Cases are mainly sporadic, but some mutations have been identified. ACTs are usually benign unilateral adenomas, but rare malignant carcinomas have poor prognosis. We present a case of adrenal insufficiency following a unilateral adrenalectomy for a functioning adrenocortical adenoma in a child.Case: A 15 month old...

Background: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive inherited disorder resulting in the inability to breakdown medium-chain fatty acids to provide energy during periods of low-calorie intake and hypoglycaemia (infections, fasting, vomiting). Without urgent treatment, the accumulation of toxic fatty acids leads to encephalopathy and sudden death.Pregnant females with Type 1 diabetes requ...

Background: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive inherited disorder resulting in the inability to breakdown medium-chain fatty acids to provide energy during periods of low-calorie intake and hypoglycaemia (infections, fasting, vomiting). Without urgent treatment, the accumulation of toxic fatty acids leads to encephalopathy and sudden death.Pregnant females with Type 1 diabetes requ...

Introduction: Flash glucose monitoring has been widely used for people with T1DM over the last 10 years. In March 2022 NICE guidelines recommended extending use to people with T2DM on insulin, previously use was limited to people on dialysis and those self-funding.Aim: To examine the use and outcomes of flash glucose monitoring in people with T2DM.Methods: People with T2DM locally who have used flash glucose monitoring for more tha...