Multiple Endocrine Disorders Associated With Adrenomyeloneuropathy and a Novel Mutation of the ABCD1 Gene

Pediatr Neurol. 2014 Jun;50(6):622-4. doi: 10.1016/j.pediatrneurol.2014.01.027. Epub 2014 Jan 16.

Abstract

Introduction: X-linked adrenomyeloneuropathy (X-AMN) is a genetic disorder that primarily affects the adrenal cortex and the nervous system. The disease shows a wide range of phenotypic expression, age of onset, and rate of progression.

Patient description: We present a thalassemic 23-year-old man with X-AMN and multiple endocrine disorders. At age 2 years, he was diagnosed with thalassaemia intermedia, and he was receiving occasional blood transfusions and maintaining an adequate hemoglobin level without signs of extramedullar hematopoiesis or hemosiderosis. During adolescence, he was diagnosed with growth hormone deficiency, primary hypothyroidism, and primary adrenal insufficiency. In his early 20s he demonstrated progressive tetraparesis, and the diagnosis of X-AMN was confirmed by DNA analysis of the ABCD1 gene.

Conclusion: This patient expands the phenotype X-AMN by adding growth hormone deficiency and hypothyroidism.

Keywords: X-linked; adrenoleukodystrophy; adrenomyeloneuropathy; growth hormone deficiency; thyroiditis.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters / genetics*
  • Adrenoleukodystrophy / genetics*
  • Adrenoleukodystrophy / physiopathology
  • Endocrine System Diseases / genetics*
  • Endocrine System Diseases / physiopathology
  • Growth Hormone / deficiency
  • Humans
  • Hypothyroidism / genetics
  • Hypothyroidism / physiopathology
  • Male
  • Phenotype
  • Young Adult

Substances

  • ABCD1 protein, human
  • ATP Binding Cassette Transporter, Subfamily D, Member 1
  • ATP-Binding Cassette Transporters
  • Growth Hormone