First described in 1983, Woodhouse-Sakati syndrome (WSS) is a rare autosomal 
recessive genetic disorder that leads to a spectrum of hypogonadal symptoms in 
adolescence. The responsible gene, DCAF17 located on chromosome 2q31.1, was 
discovered in 2008 and to date nine mutations have been reported in the 
literature. The aim of the study was to review WSS descriptively in the light of 
new case reports with focus on endocrine features. Phenotypic description of 
three patients (two females, one male) with WSS followed in the Endocrinology 
Department of the University Hospital of Nancy, France, and exhaustive review of 
the literature using the PUBMED database were performed. Of 72 patients from 29 
families with documented WSS who were identified, 39 had undergone genetic 
testing. WSS was invariably associated with hypogonadism, decreased IGF1 and 
frontotemporal alopecia starting in childhood. In addition to this triad, some 
patients exhibited intellectual disabilities of varying severity (87 %), 
bilateral deafness (76 %), cervicofacial dystonia and limb pain (42 % of cases, 
rising to 89 % after 25 years) and diabetes (66 %, rising to 96 % after 
25 years). The pathophysiology of WSS remains unclear.