From the Research
Kallmann syndrome should be treated with hormone replacement therapy to induce puberty and maintain secondary sexual characteristics, with the goal of improving quality of life and potentially achieving fertility, as supported by the most recent study 1.
Diagnosis and Treatment
Kallmann syndrome is a genetic disorder characterized by hypogonadotropic hypogonadism and impaired sense of smell. The condition results from mutations affecting the migration of GnRH neurons during embryonic development, leading to deficient gonadotropin-releasing hormone production.
- The diagnosis of Kallmann syndrome is based on clinical findings, including hypogonadotropic hypogonadism and anosmia or hyposmia, as well as genetic testing to identify mutations in genes such as KAL1 1.
- Treatment typically involves hormone replacement therapy, with testosterone replacement recommended for males and estrogen therapy combined with progesterone for females 2, 3.
- If fertility is desired, gonadotropin therapy with human chorionic gonadotropin (hCG) and follicle-stimulating hormone (FSH) can be administered 2, 4.
Management and Follow-up
Regular endocrinology follow-up is essential to monitor hormone levels, adjust dosages, and manage potential side effects of hormone therapy.
- The goal of therapeutic intervention is to develop secondary sexual characteristics, build and sustain bone density and muscle mass, and restore fertility 1.
- Early diagnosis and treatment can improve quality of life and potentially achieve fertility, making it essential to recognize the condition and provide timely intervention 5.