From the Research
Kallmann syndrome is a genetic disorder characterized by delayed or absent puberty and a reduced or absent sense of smell (anosmia), and the most effective management strategy involves hormone replacement therapy to induce puberty and maintain secondary sexual characteristics, as well as genetic molecular diagnostics to reduce the risk of the syndrome in future generations 1.
Key Features of Kallmann Syndrome
- Hypogonadotropic hypogonadism due to lack of production of sex hormones
- Anosmia or hyposmia (reduced or absent sense of smell)
- Delayed or absent puberty
- Associated features may include midline facial defects, skeletal abnormalities, kidney problems, and neurological symptoms
Diagnosis and Management
- Genetic molecular diagnostics through prenatal diagnosis and preimplantation genetic testing are significant in reducing the risk of Kallmann syndrome in the next generation 1
- Hormone replacement therapy is the primary treatment approach, with testosterone replacement for males and estrogen therapy for females 1, 2
- Fertility treatments with gonadotropins or pulsatile GnRH therapy may be beneficial for patients wishing to conceive 3