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Stat Pearls Practice Exam Questions & answers
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Stat Pearls Practice ExamA male infant is born with 46 XY karyotype, male internal genitalia, and female
external genitalia. Which of the following enzymes is likely to be deficient?
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✅✅
1.21-hydroxylase2.5-alpha reductase3.1-alpha-hydroxylase4.Cystathionine
synthase - -b
A 17-year-old girl presents to the gynecology department with complaints of
amenorrhea. On evaluation, it was found that the girl did not have ovaries, but
she had a pair of testes that were undescended. Her gene karyotype revealed
46 XY. The patient had normal testosterone levels with low estrogen. The
patient was finally diagnosed as having a deficiency in 5 alpha-reductase. The
lack of which hormone is responsible for the altered phenotype in this patient?
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✅✅
1.Testosterone2.Dihydrotestosterone3.Estrogen4.Mullerian inhibiting hormone
- -b
A male neonate is brought to the healthcare provider for an evaluation. On
examination, the provider notes that the patient has a round face,
microcephaly, and a cat-like cry. He was born at 37 weeks of gestation, and
the mother's pregnancy was uneventful. What is the most likely genetic defect
in this patient?
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1.Trisomy 132.Trisomy 183.Deletion of 5p4.Trisomy 21 - ✅✅-c
A 30-year-old male presents for a follow up for sleep apnea. His height is 4ft 3
inches, and all of his extremities are short, prominent frontal bones with a
normal-sized trunk. Which of the following is an associated mutated gene?
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1.K ras2.CD33.FGFR34.Fibrillin - ✅✅-c
An 8-year-old boy is brought to the provider by his mother. The mother has not
taken the boy to a clinic since her son was born. She explains that she is
concerned over her son's short stature. She remembers her son being
noticeably shorter than his classmates when he began school a few years ago
,but figured he would catch up eventually. At the beginning of this school year,
she noticed the discrepancy in heights again and figured something must be
wrong. The patient's vital signs are unremarkable, but on physical
examination, he appears to have a disproportionately large head with frontal
bossing, as well as increased curvature of the lumbar spine. The boy's height
is noted to be at the 4th percentile for his age. The patient's condition is most
likely due to which of the following?
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✅✅
1.Malnutrition2.In-utero exposure to alcohol3.Mutation in the FGFR3
gene4.Mutation in the fibrillin gene - -c
A 16-year-old male diagnosed with paranoid schizophrenia is started on
low-dose risperidone. Shortly thereafter, he complained of worsening
abdominal pain. On examination, there was no abdominal rigidity, but fever,
leukocytosis, diarrhea, tachycardia, and hypertension were noted. Imaging
studies of the abdomen and brain were unremarkable. What is the most likely
diagnosis?
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1.Conversion disorder2.Schizophrenia with depressive
✅✅
features3.Risperidone-induced infusion syndrome4.Acute intermittent
porphyria - -d
A 22-year-old female with HIV and a CD4 count of 125 came to the
emergency department complaining of acute abdominal pain after taking a
medication for prophylaxis of opportunistic disease. Imaging and blood exams
came back negative. A urine sample confirms the diagnosis of the disease.
The abdominal pain may improve dramatically with which one of the
following?
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1.Gabapentin2.Barbiturates3.Sulfonamides4.High dose glucose - ✅✅-d
A 4-year-old boy presents with mild intellectual disability, limb ataxia, and
nystagmus. MRI of the brain shows an abnormal white matter signal. High
levels of very-long-chain fatty acids are noted on laboratory assessments.
What is the most likely diagnosis?
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, ✅✅
1.Pelizaeus-Merzbacher disease2.Adrenoleukodystrophy3.Canavan
disease4.Alexander disease - -b
A 4-year-old male child is brought by his mother for a consult due to frequent
falls. His mother noticed that he seemed to have difficulty standing up and
would often walk into objects or trip, and his speech would occasionally be
garbled. He has decreased appetite and seems to be tired all of the time.
During the physical examination, the patient is not very cooperative; he is not
consistent in visually tracking a bright-colored toy. He seems inattentive and
would not look when his name is called in a whisper but startles on loud
sounds. He is unable to stand on his own but is able to sustain standing when
pulled to the position; he would veer to the left and right when walking. A
cranial MRI with contrast reveals bilateral parieto-occipital T2 signals
enhancement. Which of the following is expected on further diagnostic
testing?
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✅✅
1.Elevated N-acetylaspartic acid in the urine2.Decreased galactosylceramid -
-c
A 3-week-old male is found to have cholestatic jaundice. His physical
examination reveals a systolic ejection murmur and a fixed split of the second
heart sound. A diagnosis of alagille syndrome is suspected. Which of the
following has the highest sensitivity and specificity for diagnosis?
1.Hepatobiliary iminodiacetic acid (HIDA) scan2.Biopsy of the
✅✅
liver3.Ultrasound of the bile ducts4.Gain of function mutation in NOTCH2 -
-b
A 3-week-old infant is being evaluated in the neonatal intensive care unit for
jaundice. Physical examination reveals a soft systolic murmur with radiation to
the axilla. Lab work shows direct hyperbilirubinemia at 0.6 mg/dL, and chest
x-ray demonstrates a T11 butterfly vertebra. Which of the following is the most
likely underlying hepatic etiology for this patient's presentation?
✅✅
1.Hepatic vein occlusion2.Cytomegalovirus infection of the liver3.Polycystic
liver disease4.Paucity of intrahepatic bile ducts - -d
A 13-year-old boy presents because his family has noticed skin changes. He
has very light skin and hair compared to his parents and siblings. He also
, reports that he has become more short-sighted over the last few years, and on
ocular examination, astigmatism and reduced visual acuity is found. Given the
likely diagnosis, which of the following conditions results from dysfunction,
rather than absence, of the cell type involved?
1.Crouzon syndrome2.Piebaldism3.Vitiligo4.Oculocutanous albinism - ✅✅-d
A 66-year-old female presents to her dermatologist's office for an annual skin
exam. She has white skin, white hair, and eyes that rapidly dart side-to-side.
She has a history of multiple squamous cell carcinomas requiring Mohs
microsurgery. The patient most likely has a defect in which enzyme?
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✅✅
1.Aromatic L-amino acid decarboxylase2.Tyrosinase3.Phenylalanine
hydroxylase4.Dopamine hydroxylase - -b
A 1-year-old male patient is brought to the clinic by his father because he has
often noticed muddy-colored stains in his son's diapers. On physical
examination, dark nodules are noted on the dorsum of both hands. His vitals
reveal a blood pressure of 122/72 mm Hg and a heart rate of 82 bpm. What
enzyme is most likely deficient in this patient?
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✅✅-a
1.Homogentisate oxidase2.Cystathionine
synthase3.Alpha-L-iduronidase4.Phenylalanine hydroxylase -
A 3-month-old boy is brought to the clinic by his parents. According to the
mother, the baby's diaper stains black. The physical examination reveals no
abnormalities. Laboratory analysis shows an increased level of homogentisic
acid. The patient is diagnosed with a metabolic, genetic disorder that impairs
the catabolism of amino acid. Which of the following manifestations is the
most common feature seen in the adult with this condition?
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✅✅
1.Dementia2.Valvular heart disease3.Arthritis4.Peripheral neuropathy -
-c
1. A 6-month-old female is brought to the healthcare provider with the
complaint of intellectual disability. On examination, the patient has
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