ATI RN
Pediatric Genetic Disorders Questions
Question 1 of 5
A 17-year-old Tanner stage 2 female presents with a history of bilateral spontaneous milky discharge from her breasts for 2 months. Menarche was at age 12 years, and her periods had been regular until 4 months before this visit to your office. In addition, she complains of headache on awakening for the past 2 weeks. The most useful screening test is
Correct Answer: C
Rationale: Galactorrhea (milky discharge), amenorrhea, and headaches suggest hyperprolactinemia, possibly from a pituitary adenoma. Serum prolactin level (C) is the most useful initial test. Rationale: Pregnancy tests (A, B) are relevant but less likely given Tanner stage 2 and no sexual history implied; prolactin directly assesses the suspected cause, unlike estrogen (D) or LH (E, not listed).
Question 2 of 5
The treatment of choice for the patient in Questions 11 and 12 is
Correct Answer: B
Rationale: Bromocriptine (B), a dopamine agonist, is first-line for prolactinomas, shrinking tumors and normalizing prolactin. Rationale: Surgery (A) is for large/non-responsive tumors; Ondansetron (C) treats nausea, phenothiazine (D) increases prolactin, and antidepressants (E) are unrelated.
Question 3 of 5
The following are examples of autosomal dominant disorders EXCEPT
Correct Answer: D
Rationale: NF2 (A), Huntington (B), Marfan (C), are AD; Friedreich ataxia (D) is AR (GAA repeat on chromosome 9). Rationale: AD disorders need one allele; FRDA requires two.
Question 4 of 5
Of the following, the MOST common type of X-linked inheritance is
Correct Answer: B
Rationale: Color blindness (B) is the most common XLR disorder (1 in 12 males). Rationale: Hemophilia (D) and fragile X (E) are less frequent; Rett (A) is XLD.
Question 5 of 5
The MOST common genetic defect of Prader-Willi syndrome (PWS) is
Correct Answer: B
Rationale: PWS is most commonly due to paternal 15q11-13 deletion (B, ~70%). Rationale: Maternal deletion (A) causes Angelman; paternal UPD (C) is less common (~25%).