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Kallmann syndrome — RACP Paediatrics MCQ

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ModerateEndocrineKallmann syndromeRACP Paediatrics

A 15-year-old girl has not yet developed any secondary sexual characteristics. She has anosmia. LH and FSH are low. MRI shows absent olfactory bulbs. What is the most likely diagnosis?

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Correct answer: A — Kallmann syndrome

Delayed puberty with hypogonadotrophic hypogonadism (low LH/FSH) and anosmia (absent olfactory bulbs on MRI) is Kallmann syndrome. It is caused by failure of GnRH neuron migration from the olfactory placode. Treatment is with sex steroid replacement for pubertal induction and later fertility treatment with gonadotrophins.

Reference: RACP Paediatric Curriculum – Endocrine; RCH Melbourne – 2023 – Delayed Puberty CPG