Audiological findings of a patient with H syndrome: case report


Hussein D., ALTIN B., BAJİN M. D.

EGYPTIAN JOURNAL OF OTOLARYNGOLOGY, vol.37, no.1, 2021 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 37 Issue: 1
  • Publication Date: 2021
  • Doi Number: 10.1186/s43163-021-00185-8
  • Journal Name: EGYPTIAN JOURNAL OF OTOLARYNGOLOGY
  • Journal Indexes: Emerging Sources Citation Index (ESCI)
  • Keywords: H syndrome, Sensorineural hearing loss, Genetic hearing loss, Case report, HEARING-LOSS, MUTATION, SKIN
  • Hacettepe University Affiliated: Yes

Abstract

Background: H syndrome is an autosomal recessive disorder caused by mutations in SLC29A3. Hyperpigmentation, hypertrichosis, hyperglycemia, and hearing loss are some characteristics of this disorder, and it has a prevalence of < 1/1000. The aim of this report is to spread awareness among otologists, audiologists, and pediatricians about this syndrome and its audiological features.