Endocrine Abstracts

A 28 year old female was referred to endocrinology after routine bloods during first trimester of pregnancy demonstrated a low alkaline phosphatase (ALP) of 14U/l (range 30-130U/l). Calcium, phosphate and vitamin D were normal. There is no past medical history, no fragility fractures, no dental concerns and height was normal (157.5cm). Her only family history was her mother lost her teeth prematurely. Biochemical testing showed a raised copper level of 26.0µmol/l (range 1...

Metastatic disease to the thyroid is rare, accounting for 2–3% of thyroid malignancy. The most common malignancy to metastasise to thyroid is renal cell carcinoma (48.1%), followed by colorectal (10.4%) and lung (8.3%). Clinically, clear cell renal cell carcinoma (CCRCC) can present with thyroid metastases years or decades later. Several studies have shown that thyroid gland abnormalities, including nodular goitre or thyroiditis, are more likely to harbour metastases....

Familial hypocalciuric hypercalcaemia (FHH) is a rare autosomal dominant condition due to a mutation in the calcium-sensing receptor gene (CaSR). The CaSR is located on chromosome 3 and mutations are commonly heterozygote mutations causing loss of function. Heterozygote mutations demonstrate benign disease with mild, asymptomatic hypercalcaemia. Homozygous mutations in the CaSR usually present with neonatal severe hyperparathyroidism (NSHPT) in the first few weeks of life and ...