engleski

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

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

adrenoleukodystrophy ; metabolic diseases ; genetic disease ; nervous system diseases ; lipids ; female ; human ; family study ; hair (head) ; skin disease ; endocrinopathy ; heterozygozity ; thyroid diseases ; addison disease

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