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Kallmann syndrome — SCE Endocrinology MCQ

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ModeratePituitaryKallmann syndromeSCE Endocrinology

A 26-year-old man is investigated for delayed puberty, anosmia and infertility. Testosterone is low, LH and FSH are low, prolactin is normal and MRI shows hypoplastic olfactory bulbs. What is the underlying pathophysiology?

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Correct answer: E — Failed migration of GnRH neurons with olfactory bulb hypoplasia

Hypogonadotrophic hypogonadism with anosmia is Kallmann syndrome, caused by abnormal GnRH neuronal migration linked to olfactory development. Androgen resistance gives high testosterone and gonadotrophins rather than low gonadotrophins. The pearl is that smell history is part of delayed-puberty assessment.

Reference: Endocrine Society hypogonadism guideline