Kallmann syndrome update.

A recent paper published by KS specialists working in Newcastle, UK, Italy and Singapore. A comprehensive overview of some of the current understanding of Kallmann syndrome / congenital hypogonadotropic hypogonadism (CHH).

Recent advances in understanding and managing Kallmann syndrome

There used to be a “wait and see” approach to delayed puberty but increasingly specialist endocrinologists have argued that recognising early “red flag” symptoms in patients with delayed puberty can help with earlier diagnosis & treatment which leads to better outcomes for the patient.

“Red flag” symptoms can include:

Anosmia / poor sense of smell

Hearing loss

Mirror movements of the hands

Missing a kidney

Undescended testicles – one or both

Fused fingers / toes

Cleft lip / palate

Absence of “mini-puberty” hormone surge in first six months after birth.

Not all symptoms will be present in all cases and the symptoms will depend on the genetic cause of each case of Kallmann syndrome / CHH. The genetic causes of Kallmann syndrome / CHH cover at least 30 different genes and their variants. Even these 30 genes cover barely 50% of cases which makes genetic testing for Kallmann syndrome / CHH difficult.

Testing with the Kisspeptin challenge test can help doctors distinguish between a case of delayed puberty rather than a case of Kallmann syndrome / hypogonadotropic hypogonadism. The Kisspeptin challenge test is thought to give a better indication of Kallmann syndrome / CHH than the standard GnRH challenge test.