Medicine- Endocrine

Question 1

What are the signs & sx of acute intermittent porphyria exacerbation and what is the tx

Answer 1

Sx include- 5 ps - painful abdomen, polyneuropathy, psychological disturbance, precipitated by drugs/ alcohol and purple pee

Tx- Hemin - inhibit of aminolevulinate synthase —> decreased heme synthesis

Question 2

The preferred initial therapy for patients with and without iron overload in porphyria cutanea tarda

Answer 2

Phlebotomy is an effective treatment for inducing remission of porphyria cutanea tarda

Hydroxychloroquine is also an effective treatment for inducing remission, but contraindications (e.g., history of retinal disease) should be considered

Question 3

What screening is recommended in Patients with Beckwith-Wiedemann syndrome

Answer 3

1. Abdominal U/S with views of the kidneys are recommended every 3 months until 8 years of age to screen for Wilms and Neuroblastoma
2. serum AFP levels should also be measured every 2–3 months until 4 years of age to screen for hepatoblastoma

Question 4

Gold standard for diagnosing type 2 Diabetes mellitus in PCOS

Answer 4

Oral glucose tolerance test

Question 5

Conditions that increase TBG (T4- binding globulin)

Answer 5

1. Estrogens (e.g. pregnancy, Cos, HRT) & estrogenic medications (tamoxifen)
2. acute hepatitis

Question 6

Conditions that decrease TBG (T4- binding globulin)

Answer 6

1. androgenic hormones
2. high-dose glucocorticoids/hypercortisolism
3. hyperproteinemia (e.g. nephrotic syndrome, starvation)
4. chronic liver disease

Question 7

Patient has DM2 with numbness and poor balance, diminished/absent ankle reflex and reduced/absent vibration, light touch and proprioception.. what type of neuropathy?

Answer 7

Large fibre neuropathy (pressure, proprioception and balance)

Question 8

Patient has DM2 with burning and stabbing pain, reduced pinprick sensation and preserved ankle reflex..what type of neuropathy?

Answer 8

Small fibre neuropathy (pain and temperature)

Question 9

Which endocrine disorders are associated with recurrent pregnancy losses

Answer 9

1. Hashimotos (high Anti-TPO –> increased risk in both euthyroid and hypothyroid women)
2. DM
3. PCOS
4. Hyperprolactinemia

Question 10

Sudden, painless loss of vision or visual obscuration with haze or floaters in a patient with DM (no red reflex in the affected eye)

Answer 10

Vitreous hemorrhage secondary to proliferative diabetic retinopathy

Question 11

patient has necrolytic migratory erythema, normocytic normochromic anemia, and elevated glucose levels.. dx and next best step

Answer 11

Glucagonoma….. octreotide is the preferred initial therapy to bring symptoms under rapid control.

Question 12

Rapidly deteriorating vision, hearing, motor abilities, and cognition in the presence of spastic tetraplegia, sensory loss, and adrenal insufficiency (suggested by hyperpigmented skin) in a young boy

Answer 12

Adrenoleukodystrophy a rare X-linked

Question 13

Adrenoleukodystrophy etiology

Answer 13

Impaired peroxisomal ATP-binding cassette (ABC) transporter protein that leads to an accumulation of very long-chain fatty acids in the adrenal glands, testes, and white matter, and subsequent neuron demyelination.

Question 14

What laboratory anomaly will be seen in a patient with a recent grand-mal seizure

Answer 14

Postictal lactic acidosis, an anion gap metabolic acidosis that leads to a consequential decrease in serum bicarbonate

Question 15

protein-induced proctocolitis management after confirming diagnosis

Answer 15

Management should begin with elimination of all dairy and soy products from the mother’s diet.

Question 16

What is the next best step in management in a 44 year old woman with night sweats, fatigue insomnia and difficulty concentrating

Answer 16

TSH and FSH
TSH (thyroid disorders can present with overlapping sx)
FSH (an elevated FSH can confirm menopause)