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?

• A. pituitary stalk interruption syndrome
• B. Turner's syndrome
• C. atypical congenital adrenal hyperplasia
• D. autoimmune polyglandular syndrome type 1
• E. hypothalamic germinoma

A 61-year-old woman was found incidentally to have a raised serum calcium concentration. She was otherwise well. Her father had undergone a neck operation many years previously.
Investigations:
serum corrected calcium2.78 mmol/L (2.20-2.60)
plasma parathyroid hormone10.8 pmol/L (0.9-5.4)
Her general practitioner thought she had primary hyperparathyroidism.
Which further finding is most likely to cast doubt upon this diagnosis?

• A. high serum 25-OH-cholecalciferol
• B. normal serum phosphate concentration
• C. normal parathyroid radioisotope scan (sestamibi scan)
• D. low urinary calcium excretion
• E. low serum magnesium concentration

A 35-year-old woman with a 12-year history of type 1 diabetes mellitus was reviewed in the multidisciplinary pump clinic, because her diabetes was treated with an insulin pump. She had a group 2, C1 lorry-driving licence.
Specific driving-related questioning showed that she kept fast-acting carbohydrate in her vehicles and she reported good hypoglycaemic warnings. Data downloaded from her pump indicated significant variability in her blood glucose readings with few results below 2 mmol/L. She declared that this happened occasionally and she was able to explain the events.
According to implementation by the UK of the Third European Union Directive on driving, what is the most appropriate advice?

• A. she must surrender her licence for 6 months
• B. her licence must be surrendered immediately until further assessment
• C. she should stop driving voluntarily until blood glucose levels increase
• D. she can continue to drive
• E. she must appear before a Driver and Vehicle Licensing Agency-accredited diabetes specialist for assessment within 1 month

A 17-year-old girl was referred to the outpatient clinic with irritability, weight loss and difficulty sleeping. At the age of 4, she had presented with rapid growth, breast development and vaginal bleeding. The results of a gonadotropin-releasing hormone (GnRH) stimulation test performed at that time are given below.
serum oestradiolplasma FSHplasma LH
(200-400 pmol/L)(2.5-10.0 U/L)(2.5-10.0 U/L)
0 min365<0.7<0.5
30 min-<0.7<0.5
60 min-<0.7<0.5
She had been treated with GnRH analogue until the age of 11 and puberty had then progressed normally.
On examination, she was found to be tremulous, tachycardic and hyper-reflexic. Several large, irregular cafe-au-lait spots were found.
Investigations:
serum thyroid-stimulating hormone<0.05 mU/L (0.4-5.0)
serum free T436.0 pmol/L (10.0-22.0)
What is the most likely diagnosis?

• A. neurofibromatosis type 1
• B. Carney's complex
• C. McCune-Albright syndrome
• D. Cowden's syndrome
• E. multiple endocrine neoplasia type 2

A 17-year-old boy, with short stature, obesity and neurobehavioural problems, was referred because of cold intolerance.
On examination, he and his mother had similar body habitus and short fingers (brachydactyly).
Investigations (before attending clinic):
serum sodium143 mmol/L (137-144) serum potassium4.4 mmol/L (3.5-4.9) serum creatinine93 umol/L (60-110) serum corrected calcium2.02 mmol/L (2.20-2.60) serum phosphate1.7 mmol/L (0.8-1.4)
serum thyroid-stimulating hormone16.0 mU/L (0.4-5.0) serum free T410.0 pmol/L (10.0-22.0) plasma parathyroid hormone27.0 pmol/L (0.9-5.4)
His mother's blood tests were all normal.
What is the most likely diagnosis in this boy?

• A. DiGeorge syndrome
• B. pseudohypoparathyroidism
• C. polyglandular autoimmune syndrome type 1
• D. McCune-Albright syndrome
• E. pseudopseudohypoparathyroidism