Sparse hair and multiple endocrine disorders in two women heterozygous for adrenoleukodystrophy

Am J Med Genet. 1992 Jul 15;43(5):829-32. doi: 10.1002/ajmg.1320430515.


We describe two sisters (40 and 42 years old) heterozygous for adrenoleukodystrophy who have multiple endocrine disorders. In addition to the characteristic neurological symptoms, the younger patient has Addison disease and primary hypothyroidism attributable to autoimmune thyroiditis, and the older one has Graves disease. Both patients have loss of body hair and sparse scalp hair, which have not been reported previously in women heterozygous for adrenoleukodystrophy. After the institution of glucocorticoid replacement therapy, the younger sister, who has adrenal insufficiency, has shown unexpected neurological improvement.

Publication types

  • Case Reports

MeSH terms

  • Addison Disease / genetics
  • Adrenoleukodystrophy / drug therapy
  • Adrenoleukodystrophy / genetics*
  • Adult
  • Endocrine System Diseases / drug therapy
  • Endocrine System Diseases / genetics*
  • Female
  • Glucocorticoids / therapeutic use
  • Graves Disease / genetics
  • Hair / abnormalities*
  • Heterozygote*
  • Humans
  • Male
  • Pedigree
  • Polyendocrinopathies, Autoimmune / genetics
  • Thyroiditis, Autoimmune / genetics


  • Glucocorticoids