Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty

Marianna Rachmiel, Tzvy Bistritzer, Eli Hershkoviz, Auni Khahil, Orna Epstein, Ruth Parvari

Research output: Contribution to journalArticlepeer-review

Abstract

Background and Objective: Woodhouse-Sakati syndrome (WSS) is a rare autosomal-recessive disorder characterized by a combination of hypogonadism, alopecia, diabetes mellitus (DM), mental retardation and extrapyramidal signs, not described previously in Israel. Our aim was to study the clinical and genetic characteristics of the extended family of a 16-year-old female who presented with new-onset DM and had delayed puberty on physical examination. Methods: The primary physician's medical charts of 9 members of the proband's consanguineous Israeli-Arab family were reviewed. Hormonal, metabolic and antibody profile, imaging studies and molecular analysis were performed in 4 phenotypically compatible members, including the proband. Results: Four subjects, 2 females and 2 males, had DM, absent pubertal development and similar appearance. None had extrapyramidal signs. The patients were homozygous for a one-base deletion mutation (c.436delC) in the C2orf37 gene. Conclusion: We describe the first Israeli-Arab family with phenotype and genotype of WSS, imitating autoimmune DM with gonadal failure.

Original languageEnglish
Pages (from-to)362-366
Number of pages5
JournalHormone Research in Paediatrics
Volume75
Issue number5
DOIs
StatePublished - May 2011

Keywords

  • Diabetes mellitus
  • Hypogonadism
  • Puberty
  • Woodhouse-Sakati syndrome

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