• PMID: 24722136
• Gene Name: AR
• Condition: X-linked adrenoleukodystrophy
• Association: Androgen receptor gene analysis was negative for mutations or polymorphic variants associated with decreased receptor activity. Signs of hypogonadism in patients with confirmed X-ALD are not exclusively due to primary testicularfailure.
• Mutation: c.521A>G in exon 1 (p.Tyr174Cys)
• Population size: 29
• Population details: 29
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: X-linked adrenoleukodystrophy

X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?

Karapanou O, Vlassopoulou B, Tzanela M, Papadopoulos D, Angelidakis P, Michelakakis H, Ioannidis G, Mihalatos M, Kamakari S, Tsagarakis S.

We present the clinical and hormonal findings of a young male with X-linked adrenoleukodystrophy (X-ALD), with special emphasis on the biochemical and clinical pattern of hypogonadism. A patient, with primary adrenal insufficiency since the age of 5 years, developed progressive neurological symptoms at the age of 29. Diagnosis of X-ALD was established by elevated serum very long chain fatty acids (VLCFAs) and genetic testing. His sexual body hair was sparse. Hormonal investigations revealed normal testosterone and inappropriately elevated LH levels. Androgen receptor gene analysis was negative for mutations or polymorphic variants associated with decreased receptor activity. Signs of hypogonadism in patients with confirmed X-ALD are not exclusively due to primary testicular failure. Tissue specific androgen resistance represents an alternative possibility. Since no loss-of-function mutations were detected in the androgen receptor, it is speculated that the patient's androgen resistance could be part of a functional defect mediated through VLCFA accumulation at the testosterone receptor and/or post-receptor levels. FAU - Karapanou, Olga AU - Karapanou O AD - Department of Endocrinology Diabetes and Metabolism, "Evangelismos" Hospital, Athens, Greece. FAU - Vlassopoulou, Barbara AU - Vlassopoulou B AD - Department of Endocrinology Diabetes and Metabolism, "Evangelismos" Hospital, Athens, Greece. FAU - Tzanela, Marinella AU - Tzanela M AD - Department of Endocrinology Diabetes and Metabolism, "Evangelismos" Hospital, Athens, Greece. FAU - Papadopoulos, Dimitrios AU - Papadopoulos D AD - Department of Neurology; "Evangelismos" Hospital, Athens, Greece. FAU - Angelidakis, Panagiotis AU - Angelidakis P AD - Department of Neurology; "Evangelismos" Hospital, Athens, Greece. FAU - Michelakakis, Helen AU - Michelakakis H AD - Department of Metabolic Diseases, Institute of Child's Health, "Aghia Sophia" Children's Hospital, Athens, Greece. FAU - Ioannidis, George AU - Ioannidis G AD - Department of Endocrinology Diabetes and Metabolism, "Evangelismos" Hospital, Athens, Greece. FAU - Mihalatos, Markos AU - Mihalatos M AD - BioGenomica SA, Center for Genetic Analysis and Research; Athens, Greece. FAU - Kamakari, Smaragda AU - Kamakari S AD - BioGenomica SA, Center for Genetic Analysis and Research; Athens, Greece.