A 14-year-old boy is brought to the physician with scleral icterus for the past 2 days.

Which of the following is most likely to be seen in this patient?

A) Dacrocytosis
B) Decreased glucose-6-phosphate
C) Decreased NADH production
D) Increased disulfide bonds
E) Reductive environment

Which of the following is most likely to be seen in this patient?

A) Aniridia
B) Coloboma
C) Hypothyroidism
D) Lipoma
E) Recurrent pneumonia

A 32-year-old man comes to the physician for a 3-day history of dark-colored urine and dull left-sided flank pain. He has lost 10 pounds over the past 2 months. He is a non-smoker and non-drinker. Serum calcium is 10.4 mg/dL. He is aware that his father had a similar condition many years ago.

Which of the following is most likely to be seen in this patient?

A) Adenoma sebaceum
B) Angiomyolipoma
C) Diastolic murmur
D) Nerve sheath tumors
E) Retinal hemangioma

A 4-year-old boy is brought to the physician for a follow-up appointment. He is at the 3rd percentile for height and weight and has a history of 3 pneumonias since birth. He was conceived via IVF since his biologic father “had no sperm” in a sample, but sperm were retrieved using percutaneous epididymal sperm aspiration (PESA). Which of the following is most likely to be seen in this patient?

A) Autosomal dominant inheritance
B) Chromosome 5 mutation
C) Decreased unmineralized osteoid
D) Endocrine pancreatic insufficiency
E) Increased ENaC activity

A 27-year-old woman, G1P0, at 12 weeks’ gestation, comes to the obstetrician for a prenatal appointment. Laboratory studies are normal. Dermatologic examination shows scattered hyperpigmented macules as well as freckling in the axillae and groin. This patient’s most likely diagnosis shares the same inheritance pattern as which of the following?

A) Cystic fibrosis
B) Glucose-6-phosphate dehydrogenase deficiency
C) Hereditary spherocytosis
D) Kallmann syndrome
E) Lesch-Nyhan syndrome

A 6-month-old boy is brought to the pediatrician by his mother for a follow-up appointment. He has a 1-month history of progressively worsening aggressive behavior. One week ago, he rubbed his lips and nose violently on a carpet, causing serious abrasions. His mother says that there has also been an orange crystalline appearance to his stools for the past month. The inheritance pattern of this patient’s condition is most similar to which of the following?

A) Ataxia-telangiectasia
B) Cystic fibrosis
C) Hereditary hemorrhagic telangiectasia
D) Pyruvate kinase deficiency
E) Sideroblastic anemia

A 27-year-old woman presents to preconception counseling with her husband. Her family history is remarkable for a sister who died at the age of 6 from cystic fibrosis. Her husband’s family history is unremarkable. If the frequency of disease in the general population is approximately 1 in 40,000 for this condition, what is the probability this couple will have a daughter with the disease?

A) (2/3) x (1/40,000) x (1/4) x (1/2)
B) (2/3) x (1/40,000) x (1/4)
C) (2/3) x (1/200) x (1/4) x (1/2)
D) (2/3) x (1/200) x (1/4)
E) (2/3) x (1/100) x (1/4) x (1/2)
F) (2/3) x (1/100) x (1/4)
G) (3/4) x (1/40,000) x (1/4) x (1/2)
H) (3/4) x (1/40,000) x (1/4)
I) (3/4) x (1/200) x (1/4) x (1/2)
J) (3/4) x (1/200) x (1/4)
K) (3/4) x (1/100) x (1/4) x (1/2)
L) (3/4) x (1/100) x (1/4)

A 2-week-old male newborn is evaluated by a specialist pediatrician due to ambiguous genitalia since birth. Physical examination shows a 2-cm phallus a partially fused labioscrotal fold. Karyotype analysis comes back as 46XX. Ultrasound shows no uterus, and serum testosterone is within the normal male newborn range. Which of the following is the most likely explanation for this patient’s findings?

A) 5α-reductase deficiency
B) Androgen insensitivity syndrome
C) Klinefelter syndrome
D) Müllerian agenesis
E) SRY gene translocation

A researcher is looking at the binding sites of various hormones, in particular thyroid hormone. Which of the following is most likely to demonstrate binding most similar to thyroid hormone?

A 2-day-old neonatal male is evaluated for persistent jaundice. He was born at term via spontaneous vaginal delivery. Pregnancy was unremarkable. He is slightly lethargic and has scleral icterus. Laboratory studies show low hemoglobin and elevated serum LDH. A blood smear is shown. Which of the following is the most likely explanation for this patient’s findings?