Endocrine Abstracts

Background: Oncogenic osteomalacia is a paraneoplastic syndrome that occurs in the context of an FGF23 secreting tumour. We describe a case of a 42 year old gentleman who presented with this rare cause of hypophosphataemia.Clinical Case: This gentleman presented with a history of multiple fragility fractures, and generalised bone and muscular pain. His biochemistry showed: serum phosphate 0.52 mmol/l (reference range 0.80-1.50 mmol/l), adjusted calcium 2...

A 24-year-old male was referred to endocrinology with multiple severe atraumatic vertebral fractures. In the preceding 10 years the patient had experienced a bimalleolar ankle fracture and numerous metacarpal and metatarsal breakages unrelated to trauma. There was no family history of osteoporosis and examination did not reveal any abnormalities in scleral colour, stature, dentition or facial/thoracic morphology. Dual-energy x-ray absorptiometry demonstrated severe densitometr...

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 ...

Rathke’s cleft cysts (RCCs) are benign epithelium-lined cystic remnants of the embryonic Rathke’s pouch. We report a case of a previously fit and well 30-year-old lady with an incidental finding of a cystic pituitary lesion, discovered when she took part in a clinical trial as a normal volunteer. She had no history to suggest endocrine dysfunction.Pituitary function tests showed prolactin 302 mU/l (ref <630), LH 2.2 U/l, FSH 4.9 U/l, oestra...

Rathke’s cleft cysts (RCCs) are benign epithelium-lined cystic remnants of the embryonic Rathke’s pouch. We report a case of a previously fit and well 30-year-old lady with an incidental finding of a cystic pituitary lesion, discovered when she took part in a clinical trial as a normal volunteer. She had no history to suggest endocrine dysfunction.Pituitary function tests showed prolactin 302 mU/l (ref <630), LH 2.2 U/l, FSH 4.9 U/l, oestra...

A 72-year-old man, otherwise fit and well, with treated hypertension presented to our hospital with abdominal pain and vomiting. He was febrile with deranged liver function tests and elevated inflammatory markers. Abdominal ultrasound showed a right suprarenal mass, and a normal gallbladder.CT confirmed a 37×31×24 mm right adrenal mass with no significant contrast enhancement, and bilateral pneumonia responsible for the septic picture. Thrombus...

A 24-year-old woman presented at 33 weeks gestation with severe left-sided abdominal pain and orthopnoea. Ventilation-perfusion scan demonstrated two segmental mismatched defects consistent with bilateral pulmonary embolism. Anticoagulation with enoxaparin was commenced. MRI abdomen, carried out in view of abdominal pain, revealed a 4.5 cm left adrenal mass containing a fluid level. Appearances were in keeping with acute left adrenal haemorrhage. Imp...

A 24-year-old woman presented at 33 weeks gestation with severe left-sided abdominal pain and orthopnoea. Ventilation-perfusion scan demonstrated two segmental mismatched defects consistent with bilateral pulmonary embolism. Anticoagulation with enoxaparin was commenced. MRI abdomen, carried out in view of abdominal pain, revealed a 4.5 cm left adrenal mass containing a fluid level. Appearances were in keeping with acute left adrenal haemorrhage. Imp...

Case History: A 68-year-old gentleman with hypertension and diet-controlled type 2 diabetes presented in September 2015 with weight loss, fatigue, low libido and cold intolerance.Investigations: Blood results demonstrated secondary hypothyroidism (TSH 0.59 mU/l (reference range 0.35–5.00), free T4 8.3 pmol/l (ref 9.0–21.0)), hypogonadotrophic hypogonadism (testosterone 1.0 nmol/l (ref 10.0–36.0), FSH 1.5, LH 1.1) and a modestly elevated pr...

The MEN1 gene is positioned on the long arm of chromosome 11 (11q13) and results in production of the protein menin. MEN1 mutations produce aberrant menin action or production, although the relationship with tumourigenesis is not clear. Mosaicism is extremely rare, a recent report citing two mosaic cases reported by next generation sequencing1. We describe a 43 year old woman with MEN1 mosaicism associated with parathyroid adenoma and probable pancreatic gastrinoma....