Kallmann Syndrome

Definition

Kallmann syndrome is a genetic disease due to gonadotropin-releasing hormone (GnRH) deficiency, characterized by hypogonadotropic hypogonadism and olfactory dysfunction (anosmia/hyposmia).

Symptoms

  • Delayed puberty
  • Infertility
  • Inability to smell (anosmia)
  • Other anomalies such as hearing loss and cleft palate

Reasons

Migration defect of GnRH neurons (mutation in genes such as KAL1, FGFR1, PROK2).

Diagnosis

Low gonadotropin and sex hormones, smell test, genetic analysis.

Treatment

Hormone replacement therapy (testosterone/oestrogen), fertility treatment (GnRH pump or gonadotropins).

Which Polyclinic Should You Apply To?

Endocrinology Polyclinic

What to Do in an Emergency?

In case of acute psychological distress, emergency services should be consulted.

This page is for general information purposes only.