Endocrine Abstracts

Case history: A 59 year old woman presented to hospital with severe abdominal pain, diarrhoea and vomiting. Her past medical history included end stage renal failure of unknown cause, renal transplant with antithymocyte globulin (ATG) induction ten years prior, treated pulmonary tuberculosis, hypertension and new onset diabetes after transplant (NODAT).Investigations: A CT scan of the abdomen demonstrated an 85 x 74 x 96mm heterogenous mass arising from ...

Primary pigmented nodular adrenal disease (PPNAD) is a form of bilateral adrenocortical hyperplasia characterised by small to normal sized adrenal glands containing multiple small cortical pigmented nodules1. It may occur independently, but 90% of cases are a manifestation of the Carney complex. Most cases of PPNAD are diagnosed before age 30, and are the result of a germline mutation in PRKAR1A or PDE11A, leading to upregulation of cAMP signalling. It is a cause of...

Primary pigmented nodular adrenal disease (PPNAD) is a form of bilateral adrenocortical hyperplasia characterised by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. It may occur independently, but 90% of cases are a manifestation of the Carney complex. Most cases of PPNAD are diagnosed before age 30, and are the result of a germline mutation in PRKAR1A or PDE11A, leading to upregulation of cAMP signalling. It is a cause of ACTH-indepe...

A 51 year old woman presented with severe Cushing’s syndrome. In addition to a typically Cushingoid appearance she demonstrated increased cutaneous pigmentation in her face and upper chest. Biochemical investigation confirmed elevated serum cortisol levels with loss of circadian variation, and failure to suppress with low dose dexamethasone (0.5 mg 6 hourly for 48 hours). Serum ACTH levels were undetectable. Cross-sectional imaging revealed bilateral macronodular adrenal ...

Primary aldosteronism (PA) accounts for the largest proportion of cases of secondary hypertension worldwide. The majority of PA cases are a result of a unilateral aldosterone-producing adenoma (APA). The pathogenesis of APAs, the most curable form of hypertension, has been the focus of worldwide clinical interest, and is associated with mutations in four genes: KCNJ5, ATP1A1, ATP2B3, and CACNA1D. Investigation into these mutations may lead t...

A 21-year-old woman with homozygous sickle cell disease, presented to A&E with vomiting and diarrhoea, and was noted to be hypercalcaemic (corrected calcium 3.00 mmol/l [ref. 2.2–2.6]; phosphate 0.48 mmol/l [ref. 0.8–1.5]). She reported polyuria and polydipsia, but no other symptoms of hypercalcaemia. There was no history of renal stones, renal impairment, or fragility fracture. A maternal aunt required parathyroidectomy in middle age. Bloods revealed PTH 138.4 pmo...