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

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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%).

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