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質問 1：
A 33-year-old woman was seen for diabetes review 2 months after her first pregnancy. Diabetes mellitus had been diagnosed at 18 weeks' gestation. She had experienced no symptoms; routine urinalysis had shown glucose 4+, with no ketones, and her fasting blood glucose concentration was 6.2 mmol/L (3.0-6.0), rising to 13.5 mmol/L (<7.8) in a 75-g oral glucose tolerance test. She had been treated with insulin during the pregnancy, and stopped after delivery. Her mother and maternal aunt had been treated for type 2 diabetes mellitus, and a maternal uncle for type 1 diabetes. Her body mass index was 23.7 kg/m2 (18-25).
Without insulin she remained well, with no osmotic symptoms, no weight loss and no ketosis.
Investigations:
fasting plasma glucose8.4 mmol/L (3.0-6.0)
haemoglobin A1c68 mmol/mol (20-42)
oral glucose tolerance test (75 g):
fasting plasma glucose7.9 mmol/L (3.0-6.0)
2-h plasma glucose13.8 mmol/L (<7.8)
serum insulin72 pmol/L (<186)
serum C-peptide945 pmol/L (180-360)
A trial of therapy with gliclazide 40 mg once daily led to a significant improvement in her blood glucose.
What is the most likely cause of her diabetes?
A. type 1 diabetes mellitus
B. latent autoimmune diabetes in adulthood
C. type 2 diabetes mellitus
D. maturity-onset diabetes of the young caused by HNF-1? mutation
E. maturity-onset diabetes of the young caused by glucokinase mutation
正解：D
質問 2：
A 16-year-old boy was referred to the endocrine clinic with symptoms of delayed puberty.
On examination, he had a reduced sense of smell, small-sized testes and underdeveloped
secondary sexual characteristics.
Investigations:
serum testosterone3.5 nmol/L (9.0-35.0)
serum follicle-stimulating hormone1.0 U/L (1.0-7.0)
serum luteinising hormone1.5 U/L (1.0-10.0)
serum prolactin220 mU/L (<360)
MR scan of brainnormal
He asked about his future fertility.
What will be the most useful agent for him to achieve fertility?
A. octreotide
B. testosterone
C. bromocriptine
D. gonadotropin-releasing hormones
E. clomifene
正解：D
質問 3：
A 27-year-old woman was referred with abnormal thyroid function tests. She was well and reported no symptoms of thyroid disease apart from occasional palpitations. Her sister had been investigated for a thyroid problem recently. The patient was taking no medication.
Examination was normal.
Investigations:
serum thyroid-stimulating hormone7.6 mU/L (0.4-5.0) serum free T4 28.5 pmol/L (10.0-22.0)
serum free T3 13.6 pmol/L (3.0-7.0)
Her results were confirmed and no evidence of assay interference was reported by the clinical chemist, who indicated that similar thyroid function tests had been obtained 5 years previously.
MR scan of pituitarynormal
What is the most appropriate next investigation?
A. sequencing the ?-subunit of the thyroid hormone receptor gene
B. serum thyroglobulin
C. sequencing the thyroid-stimulating hormone receptor gene
D. thyrotropin-releasing hormone test
E. iodine uptake scan
正解：A
質問 4：
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. repeat oral glucose tolerance test after chest infection has resolved
B. start gliclazide
C. restrict refined carbohydrate intake
D. start sitagliptin
E. start insulin
正解：E
質問 5：
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. atypical congenital adrenal hyperplasia
B. pituitary stalk interruption syndrome
C. Turner's syndrome
D. hypothalamic germinoma
E. autoimmune polyglandular syndrome type 1
正解：E
質問 6：
A 55-year-old woman presented complaining of difficulty losing weight.
On examination, her blood pressure was 170/105 mmHg and urinalysis showed protein 1+.
An ultrasound scan of abdomen revealed a 4.5-cm solid lesion in the right adrenal gland. She was treated with ramipril and further endocrine evaluation was performed.
Investigations:
serum potassium3.6 mmol/L (3.5-4.9)
serum creatinine135 umol/L (60-110)
plasma renin activity:
(after 30 min supine)3.9 pmol/mL/h (1.1-2.7)
(after 30 min upright)6.8 pmol/mL/h (3.0-4.3)
plasma aldosterone:
(after 30 min supine)150 pmol/L (135-400)
(after 4 h upright)350 pmol/L (330-830)
serum cortisol (09.00 h)650 nmol/L (200-700)
serum cortisol (22.00 h)225 nmol/L (50-250)
24-h urinary free cortisol230 nmol (55-250)
24-h urinary dopamine3200 nmol (<3100)
24-h urinary adrenaline120 nmol (<144)
24-h urinary noradrenaline450 nmol (<570)
What is the most appropriate initial management of the adrenal lesion?
A. angiotensin-2 receptor blockade
B. ?-adrenoceptor blockade
C. surgical excision
D. medical observation with annual ultrasonography
E. mineralocorticoid receptor blockade
正解：C
質問 7：
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. Cowden's syndrome
B. multiple endocrine neoplasia type 2
C. Carney's complex
D. neurofibromatosis type 1
E. McCune-Albright syndrome
正解：E
質問 8：
A 17-year-old boy with a 10-year history of type 1 diabetes mellitus was admitted with diabetic ketoacidosis after a night of binge drinking.
He was treated appropriately with a fixed-rate intravenous insulin infusion and intravenous sodium chloride 0.9%.
Twenty-four hours after admission, he was eating and drinking normally. He was taking his usual doses of subcutaneous insulin and his urinary ketones were undetectable.
Investigations (6 hours previously):
venous blood gases, breathing air: PO25.6 kPa PCO23.8 kPa pH7.29 bicarbonate16 mmol/L base excess-1 mmol/L
lactate1.1 mmol/L
What is the likely most cause of these results?
A. hyporeninaemic hypoaldosteronism
B. hyperchloraemia
C. alcohol toxicity
D. concurrent aspirin ingestion
E. continued ketonaemia
正解：B
A 33-year-old woman was seen for diabetes review 2 months after her first pregnancy. Diabetes mellitus had been diagnosed at 18 weeks' gestation. She had experienced no symptoms; routine urinalysis had shown glucose 4+, with no ketones, and her fasting blood glucose concentration was 6.2 mmol/L (3.0-6.0), rising to 13.5 mmol/L (<7.8) in a 75-g oral glucose tolerance test. She had been treated with insulin during the pregnancy, and stopped after delivery. Her mother and maternal aunt had been treated for type 2 diabetes mellitus, and a maternal uncle for type 1 diabetes. Her body mass index was 23.7 kg/m2 (18-25).
Without insulin she remained well, with no osmotic symptoms, no weight loss and no ketosis.
Investigations:
fasting plasma glucose8.4 mmol/L (3.0-6.0)
haemoglobin A1c68 mmol/mol (20-42)
oral glucose tolerance test (75 g):
fasting plasma glucose7.9 mmol/L (3.0-6.0)
2-h plasma glucose13.8 mmol/L (<7.8)
serum insulin72 pmol/L (<186)
serum C-peptide945 pmol/L (180-360)
A trial of therapy with gliclazide 40 mg once daily led to a significant improvement in her blood glucose.
What is the most likely cause of her diabetes?
A. type 1 diabetes mellitus
B. latent autoimmune diabetes in adulthood
C. type 2 diabetes mellitus
D. maturity-onset diabetes of the young caused by HNF-1? mutation
E. maturity-onset diabetes of the young caused by glucokinase mutation
正解：D
質問 2：
A 16-year-old boy was referred to the endocrine clinic with symptoms of delayed puberty.
On examination, he had a reduced sense of smell, small-sized testes and underdeveloped
secondary sexual characteristics.
Investigations:
serum testosterone3.5 nmol/L (9.0-35.0)
serum follicle-stimulating hormone1.0 U/L (1.0-7.0)
serum luteinising hormone1.5 U/L (1.0-10.0)
serum prolactin220 mU/L (<360)
MR scan of brainnormal
He asked about his future fertility.
What will be the most useful agent for him to achieve fertility?
A. octreotide
B. testosterone
C. bromocriptine
D. gonadotropin-releasing hormones
E. clomifene
正解：D
質問 3：
A 27-year-old woman was referred with abnormal thyroid function tests. She was well and reported no symptoms of thyroid disease apart from occasional palpitations. Her sister had been investigated for a thyroid problem recently. The patient was taking no medication.
Examination was normal.
Investigations:
serum thyroid-stimulating hormone7.6 mU/L (0.4-5.0) serum free T4 28.5 pmol/L (10.0-22.0)
serum free T3 13.6 pmol/L (3.0-7.0)
Her results were confirmed and no evidence of assay interference was reported by the clinical chemist, who indicated that similar thyroid function tests had been obtained 5 years previously.
MR scan of pituitarynormal
What is the most appropriate next investigation?
A. sequencing the ?-subunit of the thyroid hormone receptor gene
B. serum thyroglobulin
C. sequencing the thyroid-stimulating hormone receptor gene
D. thyrotropin-releasing hormone test
E. iodine uptake scan
正解：A
質問 4：
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. repeat oral glucose tolerance test after chest infection has resolved
B. start gliclazide
C. restrict refined carbohydrate intake
D. start sitagliptin
E. start insulin
正解：E
質問 5：
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. atypical congenital adrenal hyperplasia
B. pituitary stalk interruption syndrome
C. Turner's syndrome
D. hypothalamic germinoma
E. autoimmune polyglandular syndrome type 1
正解：E
質問 6：
A 55-year-old woman presented complaining of difficulty losing weight.
On examination, her blood pressure was 170/105 mmHg and urinalysis showed protein 1+.
An ultrasound scan of abdomen revealed a 4.5-cm solid lesion in the right adrenal gland. She was treated with ramipril and further endocrine evaluation was performed.
Investigations:
serum potassium3.6 mmol/L (3.5-4.9)
serum creatinine135 umol/L (60-110)
plasma renin activity:
(after 30 min supine)3.9 pmol/mL/h (1.1-2.7)
(after 30 min upright)6.8 pmol/mL/h (3.0-4.3)
plasma aldosterone:
(after 30 min supine)150 pmol/L (135-400)
(after 4 h upright)350 pmol/L (330-830)
serum cortisol (09.00 h)650 nmol/L (200-700)
serum cortisol (22.00 h)225 nmol/L (50-250)
24-h urinary free cortisol230 nmol (55-250)
24-h urinary dopamine3200 nmol (<3100)
24-h urinary adrenaline120 nmol (<144)
24-h urinary noradrenaline450 nmol (<570)
What is the most appropriate initial management of the adrenal lesion?
A. angiotensin-2 receptor blockade
B. ?-adrenoceptor blockade
C. surgical excision
D. medical observation with annual ultrasonography
E. mineralocorticoid receptor blockade
正解：C
質問 7：
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. Cowden's syndrome
B. multiple endocrine neoplasia type 2
C. Carney's complex
D. neurofibromatosis type 1
E. McCune-Albright syndrome
正解：E
質問 8：
A 17-year-old boy with a 10-year history of type 1 diabetes mellitus was admitted with diabetic ketoacidosis after a night of binge drinking.
He was treated appropriately with a fixed-rate intravenous insulin infusion and intravenous sodium chloride 0.9%.
Twenty-four hours after admission, he was eating and drinking normally. He was taking his usual doses of subcutaneous insulin and his urinary ketones were undetectable.
Investigations (6 hours previously):
venous blood gases, breathing air: PO25.6 kPa PCO23.8 kPa pH7.29 bicarbonate16 mmol/L base excess-1 mmol/L
lactate1.1 mmol/L
What is the likely most cause of these results?
A. hyporeninaemic hypoaldosteronism
B. hyperchloraemia
C. alcohol toxicity
D. concurrent aspirin ingestion
E. continued ketonaemia
正解：B
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