Referoff: Resistance to Thyroid Hormone (RTH), is a rare genetic disorder where the body's tissues respond poorly to thyroid hormones. This causes the thyroid to overproduce hormones, resulting in a unique lab pattern: elevated thyroid hormones (Free T3 and Free T4) with an unsuppressed or slightly high TSH (thyroid-stimulating hormone).
USMLE Step 1 Community
325 followers
2 days ago (Edited)
Refetoff Syndrome - Wrong Vignette
Question:
A 45-year-old woman presents with chronic fatigue, weight gain, constipation, difficulty concentrating and feeling cold all the time. Her physical examination reveals a slow heart rate, dry skin, brittle hair, and edema around eyes. Laboratory findings revealed decreased free T4 and elevated TSH levels. The patient's mother and sister also suffered from the same condition. Which genetic disorder is most likely responsible for the condition of this patient?
Options:
A)Pendred's syndrome
B)Bloom's syndrome
C)Familial Mediterranean fever
D)Polyglandular autoimmune syndrome type 1
E)Refetoff syndrome
Refetoff Syndrome - Wrong Vignette
Question:
A 45-year-old woman presents with chronic fatigue, weight gain, constipation, difficulty concentrating and feeling cold all the time. Her physical examination reveals a slow heart rate, dry skin, brittle hair, and edema around eyes. Laboratory findings revealed decreased free T4 and elevated TSH levels. The patient's mother and sister also suffered from the same condition. Which genetic disorder is most likely responsible for the condition of this patient?
Options:
A)Pendred's syndrome
B)Bloom's syndrome
C)Familial Mediterranean fever
D)Polyglandular autoimmune syndrome type 1
E)Refetoff syndrome