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A 17-year-old male has not entered puberty. He has anosmia (cannot smell). MRI shows hypoplastic olfactory bulbs.
Heterogeneous; XLR (KAL1), AD (FGFR1, FGF8), AR
- Hypogonadotropic hypogonadism (low FSH/LH)
- Anosmia or hyposmia (defective olfactory neuron migration)
- Absent/delayed puberty
- May have renal agenesis, cleft palate, hearing loss
- Low sex steroids (testosterone/estradiol) with inappropriately low or normal LH/FSH (hypogonadotropic hypogonadism)
- Confirmed anosmia/hyposmia distinguishes Kallmann from normosmic isolated hypogonadotropic hypogonadism; MRI shows hypoplastic or absent olfactory bulbs
- Multigene panel testing (ANOS1/KAL1, FGFR1, FGF8, PROK2, PROKR2, CHD7, others); inheritance and associated features guide interpretation
- Screen for associated anomalies: renal ultrasound (unilateral renal agenesis), audiometry, dental/palate exam
- Pubertal induction and maintenance with sex steroid replacement (testosterone in males; estrogen then estrogen-progestin in females)
- Fertility induction with gonadotropins (hCG plus FSH) or pulsatile GnRH when conception is desired
- Bone density monitoring; long-term hormone replacement preserves bone health
- Genetic counseling reflecting locus heterogeneity (X-linked, autosomal dominant, autosomal recessive forms)