title: Multiple endocrine disorders associated with adrenomyeloneuropathy and a novel mutation of the ABCD1 gene.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  This patient expands the phenotype X-AMN by adding growth hormone deficiency and hypothyroidism.
authors.affiliation: 1st Department of Pediatrics, Aristotle University of Thessaloniki, Hippokratio General Hospital, Thessaloniki, Greece.
authors.forename: Panagiota
authors.initials: P
authors.lastname: Triantafyllou
authors.affiliation: 1st Department of Pediatrics, Aristotle University of Thessaloniki, Hippokratio General Hospital, Thessaloniki, Greece.
authors.forename: Marina
authors.initials: M
authors.lastname: Economou
authors.affiliation: Thalassemia Unit, Hippokratio General Hospital, Thessaloniki, Greece.
authors.forename: Euthymia
authors.initials: E
authors.lastname: Vlachaki
authors.affiliation: Thalassemia Unit, Agios Pavlos Hospital, Thessaloniki, Greece.
authors.forename: Maria
authors.initials: M
authors.lastname: Aggelaki
authors.affiliation: 1st Department of Pediatrics, Aristotle University of Thessaloniki, Hippokratio General Hospital, Thessaloniki, Greece.
authors.forename: Miranta
authors.initials: M
authors.lastname: Athanassiou-Mataxa
authors.affiliation: Department of Enzymology, Institute of Child Health, Athens, Greece.
authors.forename: E
authors.initials: E
authors.lastname: Michelakaki
authors.affiliation: 1st Department of Pediatrics, Aristotle University of Thessaloniki, Hippokratio General Hospital, Thessaloniki, Greece. Electronic address: jeff@med.auth.gr.
authors.forename: Dimitrios I
authors.initials: DI
authors.lastname: Zafeiriou
mesh_terms: D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000326:Adrenoleukodystrophy / Q000235:genetics* / Q000503:physiopathology; D004700:Endocrine System Diseases / Q000235:genetics* / Q000503:physiopathology; D013006:Growth Hormone / Q000172:deficiency; D006801:Humans; D007037:Hypothyroidism / Q000235:genetics / Q000503:physiopathology; D008297:Male; D010641:Phenotype; D055815:Young Adult
chemical_list: C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D013006:Growth Hormone
keywords: X-linked; adrenoleukodystrophy; adrenomyeloneuropathy; growth hormone deficiency; thyroiditis