期刊
JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
卷 37, 期 1, 页码 1-7出版社
SPRINGER
DOI: 10.1007/s40618-013-0001-5
关键词
Woodhouse-Sakati syndrome; DCAF17; Hypogonadism; Alopecia; IGF1
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.
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