JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.32, no.11, pp.1287-1293, 2019 (Peer-Reviewed Journal)
Article / Review
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Science Citation Index Expanded, Scopus
alopecia, diabetes in children and adolescents, hearing loss, hypogonadism, hypothyroidism, neurological disorders, DIABETES-MELLITUS, MENTAL-RETARDATION, FAMILIAL SYNDROME, C2ORF37, HYPOGONADISM, ALOPECIA, DEAFNESS, ENDOCRINE
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.