Kallmann syndrome in pediatric otorhinolaryngology practice - Case report and literature review

Abstract

Background: Kallmann syndrome (KS) is an isolated form of hypogonadotrophic hypogonadism (HH) in combination with a defect in olfactory function. The diagnosis of KS before maturation is often difficult to make due to the broad spectrum of presentation and genetic heterogeneities. ENT examination including smell test is essential for proper diagnosis of olfactory disturbances and non olfactory abnormalities in craniofacial region which may also be existent in KS.

Case: A 17-year-old girl admitted to ENT Department because of the olfactory sense disturbances since two years. The patient reported also amenorrhea caused by primary HH. A diagnostic work-up using double-checked Sniffin' Sticks test and 6-items olfactory test confirmed serious hyposmia and identified the presence of KS.

Conclusion: Usually anosmia is not recognized by the affected individuals, so it is recommended to perform olfactory screening tests and obligatory ENT examination in the event of a HH even when patient reports a normal sense of smell. It leads to early diagnosis of KS and will benefit the relevant patient care.The KS diagnosis should be done at an early stage, but symptoms and clinical manifestations are not always evident both in ENT and pediatric field. In this article we would like to highlight the need for a multidisciplinary assessment and awareness for KS symptoms in pediatric practice as a hole.

Keywords: Anosmia; Hypogonadism; Kallmann syndrome; Olfactory test.