X-linked adrenoleukodystrophy in patients with idiopathic addison disease

Jorge, Paula; Quelhas, Dulce; Oliveira, Pedro; Pinto, Rui; Nogueira, António

doi:10.1007/bf02190668

Cited by 30 publications

(6 citation statements)

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“…The younger the patient at manifestation of disease, the more frequently do endocrinological symptoms occur as initial symptoms. On the other hand, the proportion of patients in whom Addison's disease is attributable to ALD is age-dependent, and is highest when the adrenal insufficiency manifests before age 15 years (23). In light of the high and early prevalence of endocrinological symptoms in ALD, it is remarkable that these symptoms led to the diagnosis of ALD in only 11 of our 55 patients.…”

Section: Discussionmentioning

confidence: 79%

Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings

Korenke

Roth

Krasemann

et al. 1997

European Journal of Endocrinology

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X-linked adrenoleucodystrophy (ALD) has been shown to be one of the most frequent causes of Addison's disease in men. It is characterized by an impaired peroxisomal b-oxidation of very long chain fatty acids and is associated with mutations of the ALD gene resulting in a defective peroxisomal membrane transport protein. There is a striking variability of endocrinological and neurological symptoms in patients with ALD, with no clearly evident correlation between mutations of the ALD gene and the different neurological phenotypes. No data on endocrinological symptoms and the ALD genotype have been published so far.We report endocrinological, clinical, laboratory and molecular genetic data from 55 patients with ALD from 34 families. Endocrinological symptoms of adrenal insufficiency were observed in 33 patients, 20 of whom showed additional neurological symptoms of cerebral ALD or adrenomyeloneuropathy. Isolated neurological symptoms were seen in 12 patients; in nine patients there were neither endocrinological nor neurological symptoms.Mutations of the ALD gene (n ¼ 28) were detected in 50 patients (including nine sets of brothers) from 32 families. No correlation was found between the ALD gene mutation and endocrinological dysfunction. However, we found that all sets of brothers were concordant for the endocrinological phenotype (cortisol synthesis was reduced in two sets and normal in seven sets), whereas four sets showed a discordant neurological phenotype. As yet unknown hereditary factors other than mutations within the ALD gene may interfere with the endocrinological phenotype more strongly than with the neurological phenotype of ALD.

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Section: Discussionmentioning

confidence: 79%

Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings

Korenke

Roth

Krasemann

et al. 1997

European Journal of Endocrinology

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“…In previous reports from Western countries, about 15% of total patients had the Addison's disease phenotype (Bezman and Moser 1998). From 3% to 80% of idiopathic Addison's disease was caused by ALD (Kong and Jeffcoate 1994;Jorge et al 1994;Ronghe et al 2002). More attention should be paid to young patients with adrenal insufficiency.…”

Section: Discussionmentioning

confidence: 93%

Epidemiology of X-linked adrenoleukodystrophy in Japan

Takemoto¹,

Suzuki

Tamakoshi

et al. 2002

J Hum Genet

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“…Approximately 80% of X-ALD patients with neurological de®cits suffer from Addison's disease. When adrenocortical insuf®ciency is the only clinical manifestation of X-ALD, this is known as the`Addison-only' phenotype (SadeghiNejad & Senior, 1990;Jorge et al, 1994).…”

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confidence: 99%

Signs of testicular insufficiency in adrenomyeloneuropathy and neurologically asymptomatic X‐linked adrenoleukodystrophy: a retrospective study

et al. 1997

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Summary X-linked adrenoleukodystrophy (X-ALD) is characterized by central nervous system demyelination, and impaired steroidogenesis in the adrenal cortex and testis. Most patients develop adrenocortical insuf®ciency. We studied retrospectively the frequency and severity of testicular dysfunction in 26 men with X-ALD. Twenty-one had adrenomyeloneuropathy and ®ve patients were neurologically asymptomatic. In addition to obtaining a routine history and physical examination, we studied plasma levels of testosterone, sex hormone binding globulin, the free androgen index, and the plasma concentrations of dehydroepiandrosterone-sulphate, LH and FSH. In a subset of patients, the testosterone response to hCG and the LH and FSH responses to GnRH were also determined. Clinical signs of gonadal dysfunction were manifested by diminished libido (46%), largely overlapping with erectile dysfunction (58%), and failure of the testes to descend (15%). Physical examination revealed diminished body sexual hair (50%), gynaecomastia (35%), and small testes (12%). Laboratory studies showed low plasma total testosterone levels in 12%, and an insuf®cient increase after stimulation with hCG in 88% (15 of 17 patients tested). Plasma LH concentration was increased in 16%, and the plasma FSH level was elevated in 32%. The response of LH concentrations to GnRH stimulation was abnormally high in 47% (nine of 19 patients studied), and the response of FSH levels was too low in 16% (three of 19 patients tested). In conclusion, in a retrospective study of 26 men' with X-ALD, in 20 some signs of clinical hypogonadism were found. Plasma testosterone values were generally in the normal range, but upon testing of the hypothalamo-pituitary-testis axis some abnormalities became apparent.

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X-linked adrenoleukodystrophy in patients with idiopathic addison disease

Abstract: Addison disease manifesting during the first decade of life has a high likelihood of being the first sign of X-linked adrenoleukodystrophy.

Cited by 30 publications

References 10 publications

Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings

Variability of endocrinological dysfunction in 55 patients with X-linked adrenoleucodystrophy: clinical, laboratory and genetic findings

Epidemiology of X-linked adrenoleukodystrophy in Japan

Signs of testicular insufficiency in adrenomyeloneuropathy and neurologically asymptomatic X‐linked adrenoleukodystrophy: a retrospective study

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