Presentations

Question 1

a

Kleinfelter’s (5)

Answer 1

1. Tall, slim man
2. Infertility
3. Small firm testes
4. High Gonadotrophin Levels
5. Gynaecomastia

Question 2

Kallman’s (5)

Answer 2

1. Tall, Slim man
2. 18 yr old
3. Hypogonadism
4. Anosmia
5. Gonadotrphins Reduced

Question 3

Congenital Hypothyroidism (5)

Answer 3

1. 2-month-old baby
2. Macroglossia
3. Hypotonia
4. Puffy Face
5. Hx of Neonatal Jaundice

Question 4

Congenital Adrenal Hyperplasia (21-Hydroxylase deficiency) (4)

Answer 4

1. Ambigous Genitalia on a newborn

at 2 weeks:
2. Severe N&V

3. Dehydration

and

4. Wt Loss

Question 5

Acromegaly (5)

Answer 5

1. 40 y/o Man
2. Headaches
3. Coarsening Facial Features - brow bone, mandible protruding
4. Gaps in teeth
5. Shoes and Rings no longer fitting

Question 6

5 - Alpha -Reductase Deficiency

Answer 6

1. Baby born with ambiguous Genetalia
2. Cliteromegaly
3. Labioscrotal folds

Puberty:

4. Male virilisation
   - Facial hair
   - Voice deepening

Question 7

Riedel’s Thyroiditis (3)

Answer 7

1. Hard as wood goitre
2. Hypothyroid Sxs
3. Fibrous infiltration of gland

Question 8

Phaeochromocytoma (4)

Answer 8

1. Hypertension (malignant)
2. Intermittent Headaches
3. Palpitations
4. Tachycardia
5. Sweating

Triad usually: sweating, palps, and headaches with crazy high HTN as a sign

Question 9

Bartter’s Syndrome (5)

Answer 9

1. Failure to Thrive
2. Polyuria, Polydypsia
3. Severe Hypokalaemia
4. Normotension
5. Weakness

Question 10

MODY 1 and 3

Answer 10

1. Hyperglycaemic symptoms
2. May have Hyperglycaemic complications
3. Often found incidentally as a persistently high glucose
4. Unlikely to go into DKA

Question 11

Liddle’s Syndrome (2)

Answer 11

1. HTN

and

2. Hypokalaemic Alkalosis

from dysfunctional sodium channels in the tubules

super rare

Question 12

MEN Type 1:

Answer 12

1. Gastric ulcers - abdo pain, reflux - gastrinoma from pancreatic lesions
2. Galactorrhoea - pituitary lesions
3. Hypercalcaemia - Hyperparathyroidism

the 3 Ps

Question 13

Diabetic Gastroparaeisis (3)

Answer 13

1. Bloating
2. Vomitting
3. Irratic Glucose Control

Question 14

Medullary Thyroid Cancer (3)

Answer 14

1. Painless single nodule in thyroid
2. Sporadic or part of MEN 2 syndrome
3. Calcitonin for tumour marker

Question 15

Papillary Thyroid Cancer (4)

Answer 15

1. Painless nodule +/- lymph node involvment - usually spreads early
2. Thyroglobulin as Tumour Marker
3. Excellent prognosis
4. Generally Young Females

Question 16

Follicular Thyroid Cancer (4)

Answer 16

1. Mets to lung and bone
2. Thyroglobulin Tumour Marker
3. > 50 yo Women
4. Moderate Prognosis

Question 17

Anaplastic Thyroid Cancer (2)

Answer 17

1. Elderly
2. Horrible prognosis

Question 18

Prolactinoma (3)

Answer 18

1. Headaches
2. Amenorrheoa
3. Bumping into stuff due to Bitemp Hemianopia / Visual field defects

Question 19

Differentiat Presentations of Pituitary Adenoma from Pituitary Apoplexy (2)

Answer 19

1. Sudden onset headache leans more to Apoplexy (bleeding into the sella turca)
2. Both have panhypopituitarism but adenoma more gradual onset long term symptoms

Question 20

Which of Hypo or Hyper thyroid causes Amennorhoea / Oligomennorhoea? (1)

Answer 20

1. HypERthyroidism

High T4 - if on Levo, reduce dose

Question 21

Which of Hypo or Hyper thyroid causes Menhorragia? (1)

Answer 21

1. HypOthyroidism

Low T4 - If on Levo, up dose