Hypogonadism in adult males with adrenoleukodystrophy - 06/12/25
, Natalie R. Grant c, Takara Stanley b, e, Alyssa Halper b, e, f, Florian S. Eichler c, e, Nicholas A. Tritos d, eHighlights |
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Teaching points:
• | Central hypogonadism may occur in males with adrenoleukodystrophy; possible contributing factors may include higher glucocorticoid replacement dose, obesity and the effects of chronic illness; |
• | Compensated primary hypogonadism may also occur in males with adrenoleukodystrophy, likely reflecting testicular dysfunction as a result of VLCFA accumulation in testicular tissues; |
• | Erectile dysfunction is prevalent in males with adrenoleukodystrophy in relation to hypogonadism and/or neurologic dysfunction. |
Clinical relevance:
• | All males with adrenoleukodystrophy should undergo evaluation for hypogonadism and erectile dysfunction as part of their comprehensive care. Use of appropriate glucocorticoid and testosterone replacements as well as phosphodiesterase 5 inhibitor therapies are all integral to optimal patient care in this population; |
Abstract |
Introduction |
Hypogonadism has been reported in patients with X-linked adrenoleukodystrophy (ALD), but little is known about prevalence and characteristics. We aimed to further characterize hypogonadism in males with ALD.
Methods |
We conducted a retrospective chart review and a prospective study of male children and adults with ALD followed in a multidisciplinary clinic at a tertiary academic center. Serum gonadotropin and testosterone levels defined presence of hypogonadism in adults. Data on symptoms were collected in a survey.
Results |
We included 94 males: 56 adults, 32 adolescents and 6 infants. Seven of the 56 adults studied retrospectively (13%) had central hypogonadism. Five of the 49 adults with normal testosterone studied retrospectively (10%), and 7 of the 11 adults studied prospectively (64%) had elevated serum luteinizing hormone and normal testosterone levels, indicative of subclinical compensated primary testicular dysfunction. Adolescents and infants showed no evidence of testicular dysfunction, with normal anti-Müllerian hormone and inhibin levels. Erectile dysfunction was present in 25 of adults with ALD and normal serum testosterone levels (51%), likely reflecting neurologic dysfunction.
Conclusions |
Adult males with ALD are at risk of developing central hypogonadism and compensated primary hypogonadism. Adolescents and infants had normal testicular function, suggesting that testicular dysfunction ensues later in life as the disease progresses. Larger prospective studies of ALD cohorts are needed to fully characterize the prevalence and natural history of pituitary-gonadal dysfunction in this population.
Le texte complet de cet article est disponible en PDF.Keywords : Adrenal insufficiency, Adrenoleukodystrophy, Adrenomyeloneuropathy, Erectile dysfunction, Hypogonadism
Abbreviations : ALD, AMH, AMN, AI, BMI, cALD, FSH, HCG, LC/MS-MS, LH, MRI, SHBG, TT, VLCFA
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Vol 86 - N° 5
Article 102464- septembre 2025 Retour au numéro
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