Review

Question 1

Which of the following symptoms support the diagnosis of a growth hormone pituitary adenoma?
A. Thinning of the skin and hair
B. Paresthesias of the hands
C. Hypergonadism
D. Obstructive sleep apnea
E. Cardiomyopathy

Answer 1

B. Paresthesias of the hands (due to all the soft tissue swelling/enlargement)
D. Obstructive sleep apnea (due to macroglossia)
E. Cardiomyopathy

Question 2

What type of hypersensitivity reaction is Graves’ disease?

Answer 2

Type 2 hypersensitivity – anti-TSH receptor antibodies cause constitutive of activation of the TSH receptor

Question 3

Which of the following are clinical findings associated with hypercalcemia?
A. Polyuria and polydipsia
B. Prolonged QT interval
C. Hyperactive deep tendon reflexes
D. Muscle weakness
E. History of kidney stones
F. Diarrhea

Answer 3

A. Polyuria and polydipsia
D. Muscle weakness
E. History of kidney stones

(Hypercalcemia causes constipation and SHORT QT interval)

Question 4

Which of the following exam findings support diagnosis of non-classic adrenal hyperplasia due to 21 hydroxylase deficiency?
A. Voice deepening
B. Acne
C. Hirsutism
D. Increased muscle mass
E. Male pattern baldness
F. Milky nipple discharge

Answer 4

B. Acne
C. Hirsutism
E. Male pattern baldness

All due to excess androgens

Question 5

What is the best biochemical screening test for non-classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency?

Answer 5

17-hydroxyprogesterone levels

Question 6

Which of the following is likely to be elevated in a female with complete androgen insensitivity syndrome when compared to a typical female of the same age?
A. 17 hydroxyprogesterone
B. Testosterone
C. Luteinizing hormone
D. Estradiol
E. Serum prolactin

Answer 6

B. Testosterone
C. Luteinizing hormone - induces testosterone synthesis

Question 7

Which of the following are males with Klinefelter syndrome at increased risk for?
A.  left ventricular hypertrophy
B. Breast cancer
C. Infertility
D. Mitral stenosis
E. Osteoporosis

Answer 7

B. Breast cancer (BRCA2)
C. Infertility
E. Osteoporosis

Question 8

The risk of which of the following are increased by persistent anovulatory menstrual cycles?
A. Type 1 endometrial cancer
B. Colon cancer
C. Endometrial hyperplasia
D. Type 2 endometrial cancer
E. Leiomyosarcoma

Answer 8

A. Type 1 endometrial cancer
C. Endometrial hyperplasia

Question 9

How does prolactinoma cause amenorrhea?

Answer 9

Inhibits release of GnRH

Question 10

14-year-old is brought for evaluation for primary amenorrhea. She is below 10th percentile in height. She has expected female genitalia but lacks breast development. She has low hairline and redundant nuchal skin. In addition she has puffy hands and feet. Screening reveals elevated FSH. Additional testing would reveal:
A. XY karyotype with androgen receptor mutation
B. Absent Mullerian structures
C. XO karyotype
E. KAL1 mutation with anosmia

Answer 10

C. XO karyotype

Primary hypogonadism is one of the most common features of turner syndrome, and turner syndrome is one of the most common causes of premature ovarian failure. Patients have no breast development and primary amenorrhea. Other features include short stature, shield chest, wide neck, puppy hands and feet.

Question 11

What do you always rule out first when a female presents with amenorrhea?

Answer 11

Pregnancy! Measure beta hCG

Question 12

35-year-old female presents to the office concerned about heavy periods. She reports increased number of pads used and increase length of menses. She also notes feeling of heaviness in her lower abdomen over the past year. Exam demonstrates increased uterine size, but there are no adnexal masses. Sonographic evaluation reveals multiple intramural well circumcised uterine masses. Which of the following pathologic findings in the tumor would be most consistent with her likely diagnosis?
A. Bundles of uniform smooth muscle cells
B. Nuclear pleomorphism and atypia
C. Tightly packed endometrial glands
D. Numerous koilocytes
E. Schiller duval bodies

Answer 12

A. Bundles of uniform smooth muscle cells - Leiomyoma aka fibroid, most common benign tumor, present with heavy menstrual bleeding

B. Nuclear pleomorphism and atypia = leiomyosarcoma
C. Tightly packed endometrial glands = endometrial hyperplasia
D. Numerous koilocytes = HPV
E. Schiller duval bodies = yolk sac tumor

Question 13

26-year-old male presents to the office concerned about gynecomastia. PE revealed evidence of male hypogonadism. To determine whether the problem in this patient occurred pre-versus post pubertally, it would be best to examine what?

Answer 13

Phallus length - The distinguishing feature for hypogonadism developing in an adult is that the phallus length would be in the expected range for an adult male

Question 14

A 14-year-old with primary amenorrhea has complete 17 hydroxylase deficiency. This diagnosis would be supported by finding:
A. Increased 17 OH progesterone
B. Decreased ACTH
C. Increased deoxycorticosterone
D. Increased aldosterone
E. Increased DHEA

Answer 14

C. Increased deoxycorticosterone

17 alpha hydroxylase deficiency blocks the first steps in androgen and cortical synthesis – characterized by low blood levels of estrogen, androgens, and cortisol. This causes increase in ACTH that stimulate the production of mineralocorticoid precursors including deoxycorticosterone in the zone of fasciculata. This leads to hypertension hypokalemia and low aldosterone levels as well as primary amenorrhea.

Question 15

A 7 day old male infant is vomiting and severely dehydration. He is hypotensive. Laboratory values reveal hypoglycemia and hyponatremia. Potassium is elevated. Patient most likely has complete absence of:
A.  17 hydroxylase
B. 21 hydroxylase
C. 3 beta hydroxysteroid dehydrogenase
D. 11 Beta hydroxylase

Answer 15

B. 21 hydroxylase - required for both mineralocorticoid and glucocorticoid synthesis

(So is 11beta but weak intermediates can be made)

Question 16

How is testicular cancer medically managed?

Answer 16

Radical orchiectomy - removal of the testes and spermatic chord structures through an incision in the *groin*

Question 17

What is the hormonal marker of ovulation?

Answer 17

Progesterone - Should be at its greatest in mid-luteal phase

Question 18

To which receptor does beta hCG bind?

Answer 18

LH receptor – expressed on theca interstitial cells

Question 19

48 year-old patient presents to the office concerned of increasing erythema and slight swelling of the breast over the prior two weeks. The area is not painful and the patient has not felt ill. There is an area of erythema and thickening of the breast that is nontender and there is no palpable mass. Mammogram is unrevealing. Which of the following would be of most concern?
a. Paget’s disease of the breast
B. Fibrocystic changes
C. Inflammatory breast cancer
D. Acute mastitis

Answer 19

C. Inflammatory breast cancer - Aggressive form of invasive ductal carcinoma with poor prognosis, invades dermal lymphatics to cause peau d’orange

Typically does not form a discrete palpable mass

Question 20

Which of the following factors Is associated with an increased risk for breast cancer?
A. Dense breasts on mammogram
B. Onset of menses at age 16
C. Maternal aunts with a history of breast cancer
D. First full term pregnancy at age 22

Answer 20

A. Dense breasts on mammogram

Risk factors - Dense breasts, age, female sex, early menarche (<12), late menopause (>55), late first pregnancy (>35) or nulliparity, obesity, disease in *first degree relatives*

Question 21

A patient with a BRCA1 mutation who develops breast cancer is most likely to develop what kind of breast cancer?
A. Estrogen receptor positive
B. Well differentiated
C. Lack HER2 expression
D. Associated with good prognosis
E. Unilateral

Answer 21

C. Lack HER2 expression

BRCA1 associated breast cancers are poorly differentiated and aggressive in their behavior with poor prognosis and are more likely to be bilateral and triple negative

Question 22

A 63-year-old woman presents with a one-month history of redness and scaling and itchiness on the areola of her right breast that has not responded to topical treatment. There are no palpable masses. However there is a 2 to 3 cm area on the right nipple/areolar complex that is markedly scaly crusting and erythemaous. What is the likely diagnosis?
A. Apocrine metaplasia
B. Paget disease of the breast
C. Eczemoid dermatitis
D. Lobar carcinoma in situ
E. Inflammatory carcinoma

Answer 22

B. Paget disease of the breast - rare manifestation that presents as unilateral erythematous eruption with a scale crust, itching is common and lesion may be mistaken for eczema

Malignant cells extend from DCIS within the ductile system via the lactiferous sinuses into nipple skin without crossing the basement membrane

Question 23

Which of the following are signs of severe preeclampsia?
A. Bite cells
B. hypermagnesemia
C.  elevated liver enzymes
D. Thrombocytosis
E. Low serum haptoglobin
F. Schistocytes

Answer 23

C. elevated liver enzymes
E. Low serum haptoglobin
F. Schistocytes

Aka HELLP syndrome - Spiral arteries failed to remodel because of inadequate trophoblast invasion causing ischemia of the placenta. This activates the endothelium leading to multiorgan microvascular injury. Platelets adhere to damaged endothelium, releasing thromboxane A and serotonin causing vasospasm platelet aggregation and further endothelium damage which causes thrombocytopenia. RBC passing through causes microangiopathic hemolytic anemia.

Question 24

23 year old woman presents with concerns of two weeks onset of vagina pain itching and dysuria. These are accompanied by low-grade fever headache and malaise. Genital examination reveals that the vagina mucosa is inflamed and edematous. Numerous vesicles and shallow ulcers are parent which are exquisitely painful. What is the most likely diagnosis?

Answer 24

Vesicles = herpes simplex