Endocrine Abstracts

We report a late presentation of complete androgen insensitivity syndrome (AIS) in a phenotypic female. The patient presented with primary amenorrhoea at age 37, after ten years of heterosexual marriage. She experienced monthly pelvic pain and breast tenderness but no menstrual bleeding. Her family history was significant for primary amenorrhoea in two of her three sisters. Physical examination revealed Tanner 2 breast development, reduced axillary and pubic hair, and normal e...

A 76 years old previously healthy gentleman presented with severe hypercalcaemia (5.19 mmol/l;, 2.1–2.55) and raised Parathyroid Hormone (PTH, 37 pmol/l, 1.6–7.2) after a three weeks history of confusion, diarrhoea, and weight loss. There were no other focal symptoms and family history was not significant. Other significant findings included mild recent hyponatraemia (132 mmol/l;, 136–145), acute kidney injury (urea 16.1 mmol/l, 3.2–7.4, creatinine 177 umol/l, 63–111), low vit...

Case history: An 80-year-old woman, with a background of primary hyperparathyroidism (PHPT), presented to the emergency department with a spontaneous pathological fracture of her left femoral shaft. Blood tests revealed severe hypercalcaemia (corrected calcium 3.26 mmol/l, 2.1 – 2.55) after being lost to follow up for twenty years. She was vitamin D replete after supplementation, had normal renal functions (creatinine 76 umol/L, 50-98), and high parathyroid hormone (PTH 1...