Steroid Metabolites Support Evidence of Autism as a Spectrum

Abstract

Objectives: It is common nowadays to refer to autism as a spectrum. Increased evidence of the involvement of steroid metabolites has been shown by the presence of stronger alterations in Kanner’s syndrome compared with Asperger syndrome. Methods: 24 h urine samples were collected from 20 boys with Asperger syndrome, 21 boys with Kanner’s syndrome, and identically sized control groups, each matched for age, weight, and height for comprehensive steroid hormone metabolite analysis via gas chromatography–mass spectrometry. Results: Higher levels of most steroid metabolites were detected in boys with Kanner’s syndrome and Asperger syndrome compared to their matched controls. These differences were more pronounced in affected individuals with Kanner’s syndrome versus Asperger syndrome. Furthermore, a specific and unique pattern of alteration of androsterone, etiocholanolone, progesterone, tetrahydrocortisone, and tetrahydrocortisol was identified in boys with Kanner’s syndrome and Asperger syndrome. Interestingly, in both matched samples, only androsterone, etiocholanolone, progesterone, tetrahydrocortisone, tetrahydrocortisol, and 5a-tetrahydrocortisol groups were positively correlated. In the Asperger syndrome group, all metabolites showed a positive correlation. In the Kanner’s syndrome group, 5-a tetrahydrocortisol with androsterone showed a positive correlation. Conclusions: Due to differences in the level of alteration, the premise that Asperger syndrome is on the mild side of the autism spectrum and that Kanner’s syndrome is on the severe side is supported, but alteration patterns yield different phenotypic expressions.

Alteration of the steroidogenesis in boys with autism spectrum disorders

“…To our knowledge, this is the first study describing the markers of steroidogenesis across the whole pathway in plasma of boys diagnosed with ASD and neurotypical CTRL children. Only few studies dealing with the whole cascade of steroidogenesis have been published to this date, as majority of reports focus mostly on the narrow selection of the hormones and the bigger picture might be missing 12,22 . The human steroidogenesis is strongly age-dependent, particularly in children and pubescents.…”

“…This fact might be explained by precocious adrenarche leading to premature puberty described even in individuals having ASD 13,25 . Gasser et al analyzed steroid pathway in pubertal individuals, thus, sexual maturity have to be critically taken into account 12 . On the other hand, our results showed that sulfated androstanes like androsterone, epiandrosterone, etiocholanolone were lower in ASD group.…”

“…These results highlight the effect of these steroids in the pathogenesis of ASD. Recent studies analyzing steroidogenesis as a complex of hormones point to a crucial role of hormoneconverting enzymes 12,13 . Hypothetically detection of a candidate enzyme instead of hormone itself or its appropriate gene in sense of expression or polymorphism could be helpful in diagnostics.…”

“…Contrary, studies assessing postnatal androgen levels in ASD are indecisive. While some of them report high amount of androgens in ASD (mainly TST) other studies claim no changes, effect or relation of postnatal levels of various sex steroids on ASD 11,12 . Higher level of androgens were observed in saliva of prepubertal ASD boys and girls 13 as well as in urine of pubertal ASD boys compared to controls 12 .…”

“…While some of them report high amount of androgens in ASD (mainly TST) other studies claim no changes, effect or relation of postnatal levels of various sex steroids on ASD 11,12 . Higher level of androgens were observed in saliva of prepubertal ASD boys and girls 13 as well as in urine of pubertal ASD boys compared to controls 12 . Adult ASD males showed no differences in serum TST while its concentration in ASD women was higher compared to matched controls 14 .…”