Free SEND MRCPUK Updates

A 17-year-old girl was referred to the transition clinic. She was taking hydrocortisone 10 mg twice daily and fludrocortisone 150 micrograms daily following a failed short tetracosactide (Synacthen®) test 5years previously. She had entered puberty at the age of 10 but had never achieved adult breast development or menarche.

Investigations:

haemoglobin95 g/L (115–165)

MCV124 fL (80–96)

white cell count8.4 ? 109/L (4.0–11.0)

platelet count334 ? 109/L (150–400)

serum sodium138 mmol/L (137–144)

serum potassium4.4 mmol/L (3.5–4.9)

serum urea3.5 mmol/L (2.5–7.0)

serum corrected calcium1.80 mmol/L (2.20–2.60)

serum follicle-stimulating hormone67.9 U/L (2.5–10.0)

serum luteinising hormone56.4 U/L (2.5–10.0)

What is the most likely diagnosis?

An 18-year-old man with cystic fibrosis was referred to clinic. Over recent months his lung function had deteriorated and he had lost weight. He was being treated for a chest infection at the time of the consultation.

Investigations:

oral glucose tolerance test (75 g):

fasting plasma glucose8.2 mmol/L (3.0–6.0)

2-h plasma glucose13.5 mmol/L (<7.8)

What is the most appropriate management?

A 47-year-old man presented with a 2-month history of polyuria and polydipsia. He awoke six times most nights to pass copious volumes of urine despite not drinking any fluid for 4 hours before going to bed.

Investigations:

MR scan of pituitary fossasee image

A water deprivation test confirmed the diagnosis of cranial diabetes insipidus.

What is the most likely underlying diagnosis?

A 42-year-old woman presented with a 6-month history of tiredness. She also had a history of hypothyroidism, for which she was taking levothyroxine 150 micrograms daily, and a family history of hyperactivity syndrome.

Examination was normal.

Investigations:

serum thyroid-stimulating hormone12.3 mU/L (0.4–5.0)

serum free T418.0 pmol/L (10.0–22.0)

What is the most likely diagnosis?