X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?
| Autor: | George Ioannidis, Markos Mihalatos, Stylianos Tsagarakis, Olga Karapanou, Panagiotis Angelidakis, Dimitrios Papadopoulos, Marinella Tzanela, Smaragda Kamakari, Helen Michelakakis, Barbara Vlassopoulou |
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| Předmět: |
Adult
Male medicine.medical_specialty medicine.drug_class Endocrinology Diabetes and Metabolism Primary Adrenal Insufficiency Internal medicine Medicine Humans Testosterone Receptor Adrenoleukodystrophy Genetic testing medicine.diagnostic_test business.industry Hypogonadism Brain General Medicine Androgen medicine.disease Magnetic Resonance Imaging Androgen receptor Endocrinology Spinal Cord business Hormone |
| Zdroj: | ResearcherID |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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