ECE2016 Eposter Presentations Adrenal cortex (to include Cushing's) (85 abstracts)
Adrenal insufficiency due to X-linked adrenoleukodystrophy diagnosed in late adulthood
María Soledad Gogorza Pérez , Guillermo Serra Soler , Ana Jimenez Portilla , Marzena Wos , Honorato García Fernández , Iñaki Argüelles Jiménez , Santiago Tofé Povedano , Mercedes Codina Marcet , Elena Mena Ribas & Vicente Pereg Macazaga
Hospital Universitari Son Espases, Palma de Mallorca, Spain.
Introduction: X-linked adrenoleukodystrophy (X-ALD) is a rare condition presented mainly in males during childhood and early adulthood. It represents almost 10% of primary adrenal insufficiency (PAI) or Addison’s disease cases.
Clinical case: A 67-year-old male was diagnosed at the age of 61 with PAI during testing for mesenteric paniculitis while admitted in Internal Medicine service. He was treated with hydrocortisone and referred to outpatient endocrinology clinic. The patient did not attend and restarted follow-up 6 years later. His past medical history included dyslipidemia, anxiety and parkinson-like syndrome since 2012. He was taking hydrocortisone 20-5-5 mg, with no mineralocorticoid. He had normal blood pressure with no significant changes between supine and orthostatic position. Blood tests showed normal levels of serum sodium, potassium, testosterone and renine. Aldosterone was in the lower limit of normality. 21-hidroxilase antibodies were negative and the abdominal CT scan showed normal adrenal glands. Due to the normality of these two tests, plasma levels of very long-chain fatty acids (VLCFA) were assessed. They were elevated. Genetic study demonstrated a mutation in the ABCD1 gene. Skin biopsy revealed high levels of VLCFA in fibroblasts and low levels of ALD protein. MRI of the brain showed no alterations in the white matter. The patient had a 24 year old son and a 30 year old daughter who wanted children. She presented high levels of plasma VLCFA and the genetic study showed a mutation in the ABCD1 gene too. She was referred to genetic counseling.
Conclusion: To consider X-ALD in males diagnosed with PAI at any age because of its implications, one very important being the transmission to offspring.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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