Hypogonadism in adult males with adrenoleukodystrophy.

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.