Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy

Stradomska, Teresa Joanna; Kubalska, Jolanta; Janas, Roman; Tylki‐Szymańska, Anna

doi:10.1530/eje-11-0490

Cited by 21 publications

(11 citation statements)

References 20 publications

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“…These inclusions and markedly elevated levels of VLCFA are also seen in the fetal adrenal gland [109]. As a result steroid hormone production by the adrenal cortex and the testis is impaired [52,[110][111][112][113]. As a result steroid hormone production by the adrenal cortex and the testis is impaired [52,[110][111][112][113].…”

Section: Adrenals/testis Investigationmentioning

confidence: 97%

X-linked Adrenoleukodystrophy

Trompier¹,

Savary²

2013

Colloquium Series on the Genetic Basis of Human Disease

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Section: Adrenals/testis Investigationmentioning

confidence: 97%

X-linked Adrenoleukodystrophy

Trompier¹,

Savary²

2013

Colloquium Series on the Genetic Basis of Human Disease

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“…Historically, some patients have been prescribed dehydroepiandrosterone-sulfate, but this does not seem to have a beneficial effect 48 . In men with ALD, fertility seems to be normal 49 ; no data exists on fertility in women with ALD.…”

mentioning

confidence: 98%

Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history

et al. 2016

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X-Linked adrenoleukodystrophy (ALD) is a peroxisomal metabolic disorder with a highly complex clinical presentation. ALD is caused by mutations in the ABCD1 gene, which leads to the accumulation of very long-chain fatty acids in plasma and tissues. Virtually all men with ALD develop adrenal insufficiency and myelopathy. Approximately 60% of men develop progressive cerebral white matter lesions (known as cerebral ALD). However, one cannot identify these individuals until the early changes are seen using brain imaging. Women with ALD also develop myelopathy, but generally at a later age than men and adrenal insufficiency or cerebral ALD are very rare. Owing to the multisystem symptomatology of the disease, patients can be assessed by the paediatrician, general practitioner, endocrinologist or a neurologist. This Review describes current knowledge on the clinical presentation, diagnosis and treatment of ALD, and highlights gaps in our knowledge of the natural history of the disease owing to an absence of large-scale prospective cohort studies. Such studies are necessary for the identification of new prognostic biomarkers to improve care for patients with ALD, which is particularly relevant now that newborn screening for ALD is being introduced.

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“…Among adult Norwegian males with X-ALD, we encountered four who had produced offspring, seven who had not (including three seeking medical aid for infertility), and five who were too young to classify (data not published). Stradomska [57] found no evidence of reduced fertility among adult…”

Section: Endocrine Featuresmentioning

confidence: 92%