Testicular dysfunction in adrenomyeloneuropathy.

@article{Brennemann1997TesticularDI,
  title={Testicular dysfunction in adrenomyeloneuropathy.},
  author={W. Brennemann and Werner K{\"o}hler and S. Zierz and Dietrich Klingm{\"u}ller},
  journal={European journal of endocrinology},
  year={1997},
  volume={137 1},
  pages={
          34-9
        }
}
Adrenomyeloneuropathy (AMN) is a disorder due to a disturbance in the peroxisomal beta-oxidation of saturated very long chain fatty acids. It is characterized by symptoms of the nervous as well as the endocrine systems, especially the adrenal cortex and the gonads. We investigated the testicular function in 49 male AMN patients aged 36.2 +/- 1.5 years (range, 18.5-59 years). Twenty-four of these patients were suffering from adrenocortical insufficiency. Twenty-five AMN patients showed… 
View on PubMed
eje-online.org
43 Citations
Highly Influential Citations
1
Background Citations
19
Results Citations
1

Figures and Tables from this paper

43 Citations

Rapid decline of fertility in a case of adrenoleukodystrophy.
TLDR
To the authors' knowledge, this is the first description of sperm alterations in a post-pubertal ALD patient, in which severe impairment of spermatogenesis and rapid progression to azoospermia occurred despite normalization of plasma VLCFA concentrations.
Reproductive function in men affected by X-linked adrenoleukodystrophy/adrenomyeloneuropathy.
TLDR
It is reported that in a group of X-ALD/AMN married adult men, nine had produced offspring, a total of 13 children, and a significant decrease in fertility was not found compared with the Polish population.
X-linked Adrenoleukodystrophy
TLDR
The main biochemical defect is the accumulation of very-long-chain fatty acids (VLCFA, fatty acids with a chain length of more than 22 carbon atoms), particularly in the cholesterol ester fraction of the adrenal gland and brain white matter.
X-linked adrenoleukodystrophy: are signs of hypogonadism always due to testicular failure?
TLDR
Since no loss-of-function mutations were detected in the androgen receptor, it is speculated that the patient’s androgen resistance could be part of a functional defect mediated through VLCFA accumulation at the testosterone receptor and/or post-receptor levels.
Adrenoleukodystrophy – neuroendocrine pathogenesis and redefinition of natural history
TLDR
Current knowledge on the clinical presentation, diagnosis and treatment of X-Linked adrenoleukodystrophy is described, and gaps in the knowledge of the natural history of the disease are highlighted owing to an absence of large-scale prospective cohort studies.
Endocrine Dysfunction in X-Linked Adrenoleukodystrophy.
An X-Linked Gene Involved in Androgenetic Alopecia: A Lesson to Be Learned from Adrenoleukodystrophy
TLDR
The X-linked ALD mutation can be taken as a well-defined gene within the polygenic spectrum of genes responsible for AGA, and affected men show diffuse hair loss involving the entire scalp and the eyelashes.
Monitoring for and Management of Endocrine Dysfunction in Adrenoleukodystrophy
TLDR
Newborn screening for ALD has the potential to identify patients at high risk for life-threatening adrenal crisis and cerebral ALD, and surveillance guidelines for males with ALD were developed to address the unpredictable nature of evolving adrenal insufficiency.
The neuropsychiatry of adult-onset adrenoleukodystrophy.
TLDR
Metabolic diseases such as adrenoleukodystrophy are probably underrecognized as a cause of psychiatric illness and increased awareness of these disorders will lead to accurate diagnosis, appropriate treatment selection, and genetic counseling.
The clinical spectrum of X-linked adrenoleukodystrophy: from Addison’s-only in men to middle-age neurologic manifestations in women
TLDR
The current knowledge on X-ALD is reviewed as concerns its genetic and pathophysiological mechanisms, clinical presentations, diagnosis, treatment, and follow-up.
...
...

References

SHOWING 1-10 OF 27 REFERENCES
Clinical aspects of adrenoleukodystrophy and adrenomyeloneuropathy.
TLDR
Adrenoleukodystrophy is an X-linked recessive disorder that affects mainly the nervous system white matter and the adrenal cortex and can be diagnosed by demonstrating an excess of saturated very long chain fatty acids in plasma or red cells.
Adrenal and testicular function in 14 patients with adrenoleukodystrophy or adrenomyeloneuropathy.
TLDR
Mild testicular deficiency was seen only in association with clinical adrenal insufficiency and significant neurological impairment, while 3 of the 7 pubertal/adult patients had elevated serum LH or FSH levels.
Adreno-leukodystrophy (adreno-testiculo-leukomyelo-neuropathic-complex).
TLDR
Although satisfactory treatment of central nervous system demyelination in ALD and system degeneration in AMN awaits a better understanding of their pathogenesis, the authors are now able to control this disease complex by carrier identification and genetic counseling or by in utero detection and therapeutic abortion.
Adrenomyeloneuropathy: A probable variant of adrenoleukodystrophy I. Clinical and endocrinologic aspects
TLDR
Adrenal insufficiency beginning in childhood and developed progressive spastic paraparesis in the third decade probably represents a clinically and genetically distinct variant of childhood adrenoleukodystrophy.
Leydig cell function in infertile men with idiopathic oligospermic infertility.
TLDR
In infertile excryptorchid men and even more so in men with Klinefelter's syndrome, plasma T levels and T/LH ratios were significantly decreased, the decrease being greater than in patients with idiopathic azospermia with similar FSH levels.
Immunoactive inhibin as a marker of Sertoli cell function following cytotoxic damage to the human testis.
TLDR
CCT-induced testicular damage is associated with subtle Sertoli and Leydig cell dysfunction demonstrated by the reduced I/FSH and T/LH ratios; however, compensatory mechanisms maintain normal testosterone and inhibin levels.
Relationship between spermatogenesis and serum gonadotropin levels in azoospermia and oligospermia.
TLDR
Serum FSH is normal, however, in most patients in whom spermatids and spermatozoa are detectable on testicular biopsy, and there is no relationship between the sperm count and the concentration of serum FSH.
MR findings in adult-onset adrenoleukodystrophy.
TLDR
Analysis of the MR findings and correlation of the clinical findings has permitted a tentative subdivision of adult-onset adrenoleukodystrophy population into four subtypes that appear to differ in respect to prognosis and possibly pathogenesis.
Adrenoleukodystrophy: Elevated C26 fatty acid in cultured skin fibroblasts
TLDR
Postmortem brain and adrenal tissue from patients with adrenoleukodystrophy or adrenomyeloneuropathy have been shown to contain abnormally large amounts of very long chain fatty acids, and cultured skin fibroblasts were searched for such an abnormality.
A fatal cause of sexual inadequacy in men: adreno-leukodystrophy.
...
...