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, cilt.32, sa.11, ss.1287-1293, 2019 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Derleme
  • Cilt numarası: 32 Sayı: 11
  • Basım Tarihi: 2019
  • Doi Numarası: 10.1515/jpem-2019-0173
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1287-1293
  • Anahtar Kelimeler: alopecia, diabetes in children and adolescents, hearing loss, hypogonadism, hypothyroidism, neurological disorders, DIABETES-MELLITUS, MENTAL-RETARDATION, FAMILIAL SYNDROME, C2ORF37, HYPOGONADISM, ALOPECIA, DEAFNESS, ENDOCRINE
  • Karadeniz Teknik Üniversitesi Adresli: Hayır

Özet

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.