Association of isolated hypogonadotropic hypogonadism, pronounced hypodontia and the Wolff-Parkinson-White syndrome.

Abstract

Diagnosis of idiopathic isolated hypogonadotropic hypogonadism was made in a 22-year-old female patient referred for primary amenorrhoea. It was considered a separate entity from Kallmann's syndrome, because it was not accompanied by anosmia or other specific pleiotropic features. On the other hand, the patient showed severe hypodontia and an intermittent Wolff-Parkinson-White syndrome. To our knowledge, this association has never been reported before. This unusual phenotype points to a nonrandom association. However, no information in the literature is available to consider a new single gene defect or a contiguous gene syndrome.