JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.32, no.11, pp.1287-1293, 2019 (SCI-Expanded)
Background: Wood house-Sakati syndrome (WSS) (OMIM#241080) is an extremely rare multisystemic disease. Alopecia, hypogonadism, loss of hearing, hypothyroidism, diabetes mellitus (DM) and neurological disorders are the components of this syndrome. The syndrome is caused by homozygous or compound heterozygous mutations in DCAF17, and has recently been implicated in the development of both male and female gonads, thus resulting in hypogonadism.