Memorise Deck (Genetics, Antibodies etc..)

Question 1

Conditions associated with MEN-1 syndrome(3)

Answer 1

The “3 Ps”

1. Parathyroid Lesions (HyperPTH from hyperplasia)
2. Pituitary Lesions (70%)
3. Pancreatic Lesions (Insulinomas or Gastronomas (Peptic ulcers))

Question 2

Conditions associated with MEN-2a syndrome (3)

Answer 2

1. Medullary Thyroid Cancer

AND

The “2 Ps”

2. Parathyroid
3. Phaeochromocytoma

Question 3

Conditions associated with MEN-2b syndrome (4)

Answer 3

1. Medullary Thyroid Cancers

AND

“The 1 P”

2. Phaeochromocytoma
3. Marfan syndrome
4. Neuromas

Question 4

Gene associated with MEN-1 Syndrome (1)

Answer 4

1. MEN-1

Question 5

Gene associated with MEN-2a Syndrome (1)

Answer 5

1. RET Oncogene

Question 6

Gene associated with MEN-2b Syndrome (1)

Answer 6

1. RET Oncogene

Question 7

Which 2 types of MEN syndrome cause primary hyperparathyroidism? (2)

Answer 7

1. MEN - 1

and

2. MEN - 2a

Question 8

Which 2 types of MEN syndrome cause Phaeochromocytoma and Medullary Thyroid Cancers? (2)

Answer 8

1. MEN - 2a

AND

2. MEN - 2b

Question 9

What does MEN syndrome stand for? (1)

Answer 9

1. Multiple Endocrine Neoplasms Syndrome

Question 10

Kleinfelter’s Genetic Defect (1)

Answer 10

1. Karyotype 47, XXY

Question 11

Androgen Insensitivity Syndrome Genetics (2)

Answer 11

1. 46 XY
2. X-linked recessive

Question 12

5-Alpha-Reductase Deficiency Genetics (2)

Answer 12

1. 46 XY
2. Autosomal Recessive

Question 13

Bartter’s Syndrome (3)

Answer 13

1. Defective NKCC2 channel in ascending LoH
2. Causing severe Hypokalaemia
3. With Normotension

• unlike other hypokalaemias like conn’s, cuhsings, liddle’s which are all associated with HTN)

Question 14

MODY 2 Genetics (2)

Answer 14

1. GCK Mutation
2. Autosomal Dominant inheritance

Question 15

MODY 3 Genetics (2)

Answer 15

1. HNF1a Mutation
2. Autosomal Dominant Inheritence

Question 16

Tests fro T2 vs T1 DM (2)

Answer 16

1. Anti GAD
2. C-Peptide

Question 17

Which 3 Endocrine Hormones decrease after major surgery (3)

Answer 17

1. Insulin
2. Oestrogen
3. Testosterone

Question 18

Difference between Cushing’s syndrome and Cushing’s disease

Answer 18

Disease is the ACTH secreting pit adenoma, syndrome is the result of raised cortisol of any cause - eg adrenal adenoma