MRCPUK : SEND Questions & Answers

A 63-year-old woman was incidentally found to have a 3-cm right adrenal mass on a CT scan of abdomen during investigation for abdominal pain. Her medical history included angina, hypertension and hypercholesterolaemia. She was taking oestrogen-containing hormone replacement therapy, atenolol, bendroflumethiazide, simvastatin and aspirin.
On examination, her pulse was 60 beats per minute and regular, and her blood pressure was 150/90 mmHg. She was obese with a body mass index of 34 kg/m2 (18-25). Fundoscopy revealed grade II hypertensive retinopathy.
Investigations:
serum sodium137 mmol/L (137-144)
serum potassium3.0 mmol/L (3.5-4.9)
serum creatinine100 umol/L (60-110)
plasma renin activity (after 30 min supine)0.4 pmol/mL/h (1.1-2.7)
plasma aldosterone (after 30 min supine)200 pmol/L (135-400)
overnight dexamethasone suppression test (after 1 mg dexamethasone):
serum cortisol75 nmol/L (<50)
24-h urinary free cortisol140 nmol (55-250)
24-h urinary metanephrine<1 umol (<2)
24-h urinary normetanephrine1 umol (<3)
What is the most likely cause of the hypertension?

• A. essential hypertension
• B. renovascular disease
• C. phaeochromocytoma
• D. Conn's syndrome
• E. Cushing's syndrome

A 17-year-old girl with Turner's syndrome attended the clinic for review. She had been treated with growth hormone therapy for the previous 7 years, and had now reached her final adult height.
What is the most appropriate next step in management?

• A. assess her bone density by DXA scan and continue growth hormone if bone mineral density is less than mean for age
• B. withdraw growth hormone therapy for 3 months and evaluate growth hormone secretion
• C. continue growth hormone until 25 years old then reassess
• D. start to reduce growth hormone therapy with a view to discontinuing in 2 years' time
• E. stop growth hormone therapy

A 17-year-old girl presented with primary amenorrhoea. She had grown and developed normally. There was no history of galactorrhoea or hirsutism.
On examination, her height was 1.69 m, her weight was 68.3 kg, and her body mass index was 23.9 kg/m2 (18-25). She had stage 5 breast development and stage 5 pubic hair. Her visual fields were full to confrontation.
Investigations:
serum cortisol (09.00 h)416 nmol/L (200-700) serum oestradiol51 pmol/L (200-400)
serum follicle-stimulating hormone0.8 U/L (2.5-10.0) serum luteinising hormone1.2 U/L (2.5-10.0) serum thyroid-stimulating hormone1.2 mU/L (0.4-5.0) serum free T415.6 pmol/L (10.0-22.0)
What is the most appropriate next investigation?

• A. karyotyping
• B. serum insulin-like growth factor 1
• C. short tetracosactide (Synacthen@) test
• D. luteinising hormone-releasing hormone test
• E. serum prolactin

A 19-year-old man presented with late development of his pubic and axillary hair. He was otherwise well and was not taking any medication. His serum testosterone concentration had been normal on two previous occasions.
On examination, he now had post-pubertal secondary sexual characteristics. He had 15-20 mL testes.
Investigations:
serum testosterone27.0 nmol/L (9.0-35.0)
serum sex hormone binding globulin28 nmol/L (10-62)
serum follicle-stimulating hormone2.0 U/L (1.0-7.0)
serum luteinising hormone2.9 U/L (1.0-10.0)
What is the chief product of the Sertoli cell?

• A. testosterone
• B. oestrogen
• C. anti-Muellerian hormone
• D. kisspeptin
• E. serum sex hormone binding globulin

A 43-year-old man was in an ENT ward, having recently undergone removal of a carotid body tumour.
Five years previously, he had undergone a similar procedure in another hospital. He also recalled that his brother had undergone surgery for a similar condition, and that his father, who had since died, might also have had neck surgery.
The ENT surgeons were concerned that there might be an underlying genetic diagnosis.
What is the most likely diagnosis?

• A. von Hippel-Lindau disease
• B. succinate dehydrogenase A deficiency
• C. multiple endocrine neoplasia type 2
• D. succinate dehydrogenase D deficiency
• E. neurofibromatosis type 1