ATI RN
Pediatric Genetics Questions
Question 1 of 5
46 XX male, the defect is related to:
Correct Answer: B
Rationale: SRY gene (B) causes 46, XX males. Rationale: SRY translocation to X or autosome in XX individuals triggers male development; AZFa affects spermatogenesis, not sex determination.
Question 2 of 5
Which of the following statements is NOT associated with multifactorial disease inheritance?
Correct Answer: B
Rationale: Multifactorial diseases involve genetic and environmental factors (A) and include MS, diabetes, and cancer (C), but late-onset in one person doesn’t inherently increase sibling risk unless shared factors persist (B is not typical). Rationale: Multifactorial inheritance implies polygenic and environmental interplay, not age-specific sibling risk unless familial clustering is evident.
Question 3 of 5
The main treatment for PKU includes:
Correct Answer: B
Rationale: PKU treatment is a low-protein diet (B). Rationale: Phenylketonuria (PAH gene) prevents phenylalanine metabolism; restricting protein (phenylalanine source) prevents toxic buildup, unlike carbohydrate restriction.
Question 4 of 5
A 7-year-old female complains of a brown-green discharge on her underwear. She has no fever or labial tenderness and denies sexual contact. Her mother states that for the past 4 months her daughter has been taking ballet classes and frequently sleeps in her leotards. The most likely diagnosis is
Correct Answer: A
Rationale: Brown-green discharge in a prepubertal girl with no fever or sexual contact, linked to tight clothing (leotards), suggests nonspecific vaginitis (A). Rationale: Poor hygiene from tight attire causes irritation and discharge; Gardnerella (B), gonorrhea (C), and Chlamydia (D) are less likely without sexual history or specific signs; Candida (E) typically causes white discharge.
Question 5 of 5
A 16-year-old non-sexually active female has had increasingly severe headaches and a breast discharge for 3 months. Physical examination reveals bitemporal hemianopsia. An important laboratory study in evaluating this patient is a serum level of
Correct Answer: C
Rationale: Headaches, galactorrhea, and bitemporal hemianopsia (pituitary pressure on optic chiasm) suggest prolactinoma; serum prolactin (C) is key. Rationale: Elevated prolactin causes discharge; estrogen (A), progesterone (B), cortisol (D), and LH (E) don’t explain all symptoms.