title: Insulin resistance Type A and short 5th metacarpals.
abstract: OBJECTIVE
  Insulin resistance is associated with a number genetic syndromes and a variety of defects of insulin action.
  
  
  METHODS
  We describe three members of an extended family spanning two generations with insulin resistance Type A and short 5th metacarpals. The proband had secondary amenorrhoea, male pattern hair distribution, acne, hirsutism, deep voice, acanthosis nigricans, polycystic ovaries, diabetes, features of acromegaly, raised creatine kinase and triglyceride levels and short 5th metacarpals. Her growth hormone, adrenal steroid and testosterone levels were normal. The proband's daughter had severe acne, hirsutism, acanthosis nigricans, polycystic ovaries, raised triglyceride, glucose and testosterone level short metacarpals and normal insulin receptor gene. The proband's son had a muscular build, raised creatine kinase, hypertriglyceridaemia and short 5th metacarpals. His fasting insulin levels were normal but pro-insulin was raised.
  
  
  CONCLUSIONS
  There are many familial and genetic syndromes associated with insulin resistance. This family was diagnosed as having insulin resistance Type A. This family does not conform entirely to any of the previously described syndromes and a number of family members have the phenotype of short 5th metacarpals, which appears to be associated with the features of insulin resistance Type A.
authors.affiliation: Darent Valley Hospital, Darenth Wood Road, Dartford, Kent, UK.
authors.forename: Vinod K
authors.initials: VK
authors.lastname: Patel
authors.forename: Huw Alban
authors.initials: HA
authors.lastname: Davies
mesh_terms: D000293:Adolescent; D000328:Adult; D001786:Blood Glucose / Q000032:analysis; D005192:Family Health; D005260:Female; D006225:Hand / Q000000981:diagnostic imaging; D006801:Humans; D007328:Insulin / Q000097:blood; D007333:Insulin Resistance / Q000235:genetics*; D008297:Male; D008663:Metacarpus / Q000002:abnormalities* / Q000000981:diagnostic imaging; D010375:Pedigree; D010641:Phenotype; D011859:Radiography
chemical_list: D001786:Blood Glucose; D007328:Insulin