USMLE (United States Medical Licensing Examination) Step 1 Practice Exam

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What is characteristic of Kallmann syndrome?

Increased GnRH production
Delayed puberty and anosmia
Increased testosterone levels
Normal sperm count in males

The correct answer is: Delayed puberty and anosmia

Kallmann syndrome is a genetic disorder characterized by delayed or absent puberty and anosmia (lack of sense of smell). This condition results from abnormal development of the hypothalamic-pituitary-gonadal axis during fetal development. Patients with Kallmann syndrome have decreased production of gonadotropin-releasing hormone (GnRH), leading to low levels of LH and FSH and subsequently delayed sexual maturation. This is why the correct answer is delayed puberty and anosmia. The other options are incorrect because: A. Kallmann syndrome is associated with decreased GnRH production, not increased. C. Testosterone levels are usually low in individuals with Kallmann syndrome due to the impaired production of LH and FSH. D. Males with Kallmann syndrome typically have low levels of testosterone and reduced sperm production, leading to infertility.