Endocrine case, 2020 batch

A 45-year old woman with a known history of rheumatoid arthritis presents to her primary care physician with fatigue, weight gain and cold intolerance. Examination reveals an enlarged thyroid gland ( goiter), coarse skin and bradycardia. Her thyroid function tests show elevated TSH levels and low levels of total T3 and T4. What is the most likely diagnosis?

Answer: Primary hypothyroidism. Likely etiology- autoimmune process such as Hashimoto’s thyroiditis

Endocrine case, 2020 batch

A 30-year old woman presents to the emergency department with acute abdominal pain that is colicky in nature. She has hematuria and bone pain. Physical examination reveals her to be dehydrated. Plain X- ray of the abdomen reveals a radiopaque renal calculus on the right side. Serum calcium is found to be elevated. The patient’s past medical history is significant for an islet cell tumor of the pancreas( insulinoma). What is the most likely diagnosis?

Answer: Primary hyperparathyroidism caused by an adenoma. Reason for dehydration- primary hyperparathyroidism results in hypercalcemia. This causes impairment of the action of antidiuretic hormone( ADH) at the collecting ducts. This is an example of Nephrogenic Diabetes insipidus. These patients are expected to have polyuria and may become dehydrated, especially if water intake is not maintained.

Most likely syndrome is Multiple endocrine neoplasia ( MEN) type 1

Bone case, 2020 batch

A 10-year old boy complains of pain and swelling around his right knee for a 3-week duration that has not improved with rest. His mother denies a history of trauma to the knee. A radiograph shows a destructive mixed lytic and blastic mass arising from metaphysis of the distal tumor. What is the most likely diagnosis?

Most likely diagnosis: osteosarcoma

Risk factors for developing this disease: prior irradiation, genetic predisposition ( parents with retinoblastoma), Paget’s disease of the bone and bone infarcts

Endocrine case 2, 2020 batch

A 35-year old man develops severe headaches and has blood pressure of 200/120 mm Hg. He also notes anxiety, palpitations and sweating. He has been in good health and has had normal blood pressure readings on several occasions. The urine drug screen is negative. Further evaluation reveals a left suprarenal mass that subsequently is removed. Grossly, it appeared gray and tan centrally and yellowish on the cortex. On microscopy, there are large pink cells arranged in nests with capillaries between them.

What is the most likely diagnosis?

Most likely diagnosis is Pheochromocytoma

Acute complications are acute LVF, pulmonary edema, M.I. cerebrovascular accidents, CCF, ventricular fibrillation

Other helpful diagnostic tests urinary or serum catecholamines such as vanillyl mandelic acid

Endocrine case 1

A 35- year old woman notices a milky discharge from both nipples. She underwent a bilateral tubal ligation after the birth of her last child, and a pregnancy test is negative. She has not had a menstrual period for the last 8 months. She complains of intermittent headaches and some difficulty with her peripheral vision. What is the most likely diagnosis?

Most likely diagnosis is Prolactin adenoma.

Diagnostic tests are basal prolactin levels and MRI scan of pituitary with gadolinium or CT imaging

CNS case 2

A 45- year old woman who works as an accountant has right-sided hearing loss as well as ” ringing of the ears”( tinnitus) that has begun to interfere with her work. She reports that this has been happening over a 6- month period. She denies headache or trauma. She has not had previous medical problems. A CT scan of the head reveals a 2 cm mass at the cerebello- pontine angle. What is your diagnosis?

Most likely diagnosis is Acoustic neuroma/ schwannoma of eighth cranial nerve

Other types of peripheral nerve tumors are Neurofibromas, Malignant peripheral nerve sheath tumor and Neurofibromatosis type 1 and 2

Case 1 CNS

A 9-year old girl is evaluated for headaches and clumsiness with walking( ataxia) over the last month. A CT scan reveals a midline, partially cystic cerebellar mass. The tumor is removed surgically, and microscopic examination shows elongated bipolar astrocytes with fibrillar processes and Rosenthal fibers

Answer : Juvenile pilocytic astrocytoma

Most common primary brain tumors in adults are glioblastoma multiforme, meningioma and acoustic neuroma. In children, cerebellar astrocytoma and medulloblastoma