A 16-year-old boy was referred with concern about delayed puberty. His stature had been short as a child. He reported an increase in height at the age of 13, and had begun to develop pubic hair at the age of 14. He reported no further growth or development in the past year. His father recalled going through puberty at the age of 13.
On examination, his height was 1.60 m (between 0.4th and 2nd centile), weight was 56.4 kg (between 9th and 25th centile), genital development was Tanner stage 2 and testicular volume was 8 mL bilaterally. Pubic hair was Tanner stage 2, with no evidence of androgenic axillary hair. Bone age at the left wrist was 13.5 years.
Investigations:
serum testosterone2.9 nmol/L (9.0-35.0)
Which feature in his clinical presentation most strongly suggests a diagnosis other than constitutional delay?

• A. failure to progress through puberty
• B. absence of axillary hair in the presence of pubic hair
• C. being below the 2nd centile for height
• D. 2.5-year delay in bone age
• E. discordance between the height centile and the weight centile

A 26-year-old man presented urgently, complaining of muscle pains. He had been found to have heterozygous familial hypercholesterolaemia 2 years previously owing to a mutation in the PCSK9 gene. He had a strong family history of premature vascular disease. He was taking atorvastatin 80 mg daily.
Investigations:
serum creatine kinase2782 U/L (24-195)
serum cholesterol5.7 mmol/L (<5.2)
After stopping atorvastatin, his serum creatine kinase fell to within the normal range.
What is the most appropriate next step in management?

• A. start fenofibrate 100 mg
• B. restart atorvastatin 40 mg
• C. start fluvastatin 40 mg
• D. start ezetimibe 10 mg
• E. restart atorvastatin 10 mg

A 46-year-old man of European descent was reviewed in the diabetes clinic. He had type 2 diabetes mellitus, which had been diagnosed 6 months previously. He had been symptom free and was a non-smoker but had a family history of cardiovascular disease. He exercised regularly and had managed to lose 8 kg.
On examination, his blood pressure was 148/76 mmHg, his weight was 76 kg and his body mass index was 24 kg/m2 (18-25).
Investigations:
urinary albumin:creatinine ratio0.6 mg/mmol (<2.5)
serum cholesterol5.6 mmol/L (<5.2)
serum HDL cholesterol0.90 mmol/L (>1.55)
fasting serum triglycerides2.20 mmol/L (0.45-1.69)
According to NICE guidelines (CG181, July 2014), what is the most appropriate management of his lipid profile?

• A. start nicotinic acid
• B. start a statin
• C. start a fibrate
• D. assess cardiovascular risk using UKPDS risk engine
• E. observe and repeat lipid profile in a few months

A 42-year-old motor mechanic was referred to the dermatologist with small cauliflower-like deposits on the points of his elbows. He was generally well, but on systemic enquiry, he described intermittent claudication. He had previously been hypertensive, and was taking thyroxine for primary hypothyroidism.
On examination, he was moderately obese. He had xanthelasmata on the upper eyelids of both eyes and tuberoeruptive xanthomata on both elbows, both knees and the nape of the neck.
Investigations:
serum alanine aminotransferase78 U/L (5-35)
fasting plasma glucose7.8 mmol/L (3.0-6.0)
serum urate0.48 mmol/L (0.23-0.46)
serum cholesterol13.4 mmol/L (<5.2)
serum LDL cholesterolnot measurable
serum HDL cholesterol0.90 mmol/L (>1.55)
fasting serum triglycerides9.32 mmol/L (0.45-1.69)
apolipoprotein E genotypehomozygous for apolipoprotein E2
What is the most likely diagnosis?

• A. lipoprotein lipase deficiency
• B. abetalipoproteinaemia
• C. type III hyperlipidaemia (dysbetalipoproteinaemia)
• D. heterozygous familial hypercholesterolaemia
• E. familial combined hyperlipidaemia