A novel DCAF17 homozygous mutation in a girl with Woodhouse-Sakati syndrome and review of the current literature


Kurnaz E., Turkyilmaz A., Yarali O., Demir B., Cayir A.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.32, no.11, pp.1287-1293, 2019 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Review
  • Volume: 32 Issue: 11
  • Publication Date: 2019
  • Doi Number: 10.1515/jpem-2019-0173
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.1287-1293
  • Keywords: alopecia, diabetes in children and adolescents, hearing loss, hypogonadism, hypothyroidism, neurological disorders, DIABETES-MELLITUS, MENTAL-RETARDATION, FAMILIAL SYNDROME, C2ORF37, HYPOGONADISM, ALOPECIA, DEAFNESS, ENDOCRINE

Abstract

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.