Overview
Kallmann’s syndrome is characterised by an inability to initiate or complete puberty secondary to hypogonadotropic (FSH and LH are not released) hypogonadism (the gonads do not work as a result). There is an underproduction of gonadotropin-releasing hormone (GnRH). It is thought to be x-linked recessive.
To help make sense of this chapter, it may be helpful to refer to Endocrine and Metabolic Physiology.
Epidemiology
- More common in men
Presentation
The presenting complaint may be delayed/absent puberty:
- Anosmia
- Tall build
- Small testes
- Primary amenorrhoea
- Lack of or poorly defined secondary sexual characteristics
Investigations
- FSH and LH:
- Both low
- Testosterone:
- Low
- Karyotyping:
- May detect chromosomal abnormalities
Management
Management is coordinated by a multidisciplinary team to monitor for long-term complications. Testosterone/oestrogen replacement is often used.
