Endocrine Abstracts

Introduction: The aim of this project was to review all adrenal masses ≥ 10 cm managed in our organisation over a 10-year period (2012-2022).Results: 20 adrenal masses ≥10 cm in maximal diameter were identified (range 10-32 cm, average 16.6 cm, 6 above 20 cm and one above 30 cm). Age at presentation was 17-80 y (mean 56.3 y, 50% F). Duration of symptoms: 1 day-18 months, mean 7.5 months with 6 presenting acutely. Follow-up period: 1 month-122...

C-terminal derivatives of hormones commonly have secondary actions. This is a well-established phenomenon, seen in the case of oxytocin, parathyroid hormone and alpha-melanotropin. Such derivatives can either complement or antagonise the action of the parent hormone. Thyroid-releasing-hormone (TRH) undergoes cleavage and cyclisation to form the C-terminal derivative histidinyl-proline-diketopiperazine (His-Pro-DKP). Despite conventional function via the endocrine HPT axis, the...

Background: Turner syndrome (TS) comprises a group of sex chromosome anomalies affecting approximately 15,000 in the UK. TS affects every organ system in the body through haploinsufficiency of genes that are normally expressed by both X chromosomes. Common features include short stature, congenital heart diease and gonadal dysgenesis requiring long-term oestrogen replacement but the adult phenotype extends to excess risk of diabetes, hypertension and hepatosteatosis. UCLH has ...

Introduction: Kisspeptin is the endogenous ligand for the G-protein coupled receptor-54 (GPR54 or KiSS1R). During human pregnancy, maternal levels of placental kisspeptin dramatically increase 7000-fold. The physiological significance of this is unknown. A potential target could be the fetal adrenal cortex (FAC), which undergoes rapid growth from 10 weeks gestation, predominantly of the inner fetal zone (FZ). The FZ expresses the steroidogenic enzymes needed for conversion of ...

Background: CSF rhinorrhoea is a rare but recognised complication of dopamine agonist therapy for macroprolactinoma. In the majority of cases, onset of CSF rhinorrhoea is within 4 months of commencing therapy.Case report: A 23-year-old man presented to the Emergency Department in April 2010 with acute weakness in his left arm and leg associated with intermittent headaches. Examination revealed mild right-sided ptosis and inadequate androgenisation. Visua...

Background: A diagnosis of Addison’s disease means lifelong dependence on daily glucocorticoid and mineralocorticoid therapy and is associated with increased morbidity and mortality, as well as a risk of unexpected adrenal crisis. We wished to explore whether immunomodulatory therapy at an early stage of autoimmune Addison’s disease could lead to preservation or improvement in adrenal steroidogenic function.Design: We conducted an open-label, p...

Familial glucocorticoid deficiency (FGD;OMIM 202200) results from the inability of the adrenal cortex to produce cortisol in response to ACTH stimulation. Half of all cases are caused by mutations in MC2R, MRAP or STAR. SNP array genotyping of FGD patients of unknown aetiology mapped a disease locus to chromosome 5p13-q12. Targeted exome sequencing of 5p13-q12 in one patient identified a homozygous mutation, p.Ala533Val, in nicotinamide nucleotide transhyd...

Introduction: A unique variant of familial glucocorticoid deficiency (FGD) exists in the Irish travelling community, a genetically isolated population with high levels of consanguinity. Affected children develop hypocortisolaemia and raised ACTH but retain normal renin and aldosterone levels. Children also have short stature, evidence of increased chromosomal breakage and natural killer cell deficiency.Methods: We sought areas of homozygosity common to a...

Acromegalic congestive cardiac failure (CCF) is a serious and late complication of untreated acromegaly with associated high morbidity and mortality.1 Spontaneous recovery of end stage acromegalic CCF following autoinfarction of a somatotroph adenoma has not been previously reported.We report the case of a 61-year-old woman who presented with features of severe biventricular CCF and an acromegalic phenotype. Echocardiography revealed poor LV f...

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease due in ∼25% of cases to defects in the ACTH receptor (melcanocortin 2 receptor -MC2R). Slow progress in characterization of these mutations has been made in view of the difficulty in establishing a functional heterologous cell transfection system for the MC2R, and the best available models relate to the mouse Y6/OS3 cell lines. However we have shown previously that the melanocortin 2 receptor ...