title: Woodhouse-Sakati syndrome in an Israeli-Arab family presenting with youth-onset diabetes mellitus and delayed puberty.
abstract: 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.
  
  
  CONCLUSIONS
  We describe the first Israeli-Arab family with phenotype and genotype of WSS, imitating autoimmune DM with gonadal failure.
authors.affiliation: Pediatric Endocrinology, Assaf Harofeh Medical Center, Zerifin, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. rmarianna@gmail.com
authors.forename: Marianna
authors.initials: M
authors.lastname: Rachmiel
authors.forename: Tzvy
authors.initials: T
authors.lastname: Bistritzer
authors.forename: Eli
authors.initials: E
authors.lastname: Hershkoviz
authors.forename: Auni
authors.initials: A
authors.lastname: Khahil
authors.forename: Orna
authors.initials: O
authors.lastname: Epstein
authors.forename: Ruth
authors.initials: R
authors.lastname: Parvari
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000505:Alopecia / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D018912:Arabs / Q000208:ethnology; D001145:Arrhythmias, Cardiac / Q000150:complications / Q000175:diagnosis; D001480:Basal Ganglia Diseases; D048909:Diabetes Complications / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D003937:Diagnosis, Differential; D005190:Family; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000175:diagnosis; D008607:Intellectual Disability / Q000150:complications / Q000175:diagnosis; D007557:Israel; D008297:Male; D010375:Pedigree; D011628:Puberty, Delayed / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D055815:Young Adult