Abstract

Evidence of altered cholesterol and steroid hormones in autism is increasing. However, as boys are more often affected, evidence mainly relates to autistic males, whereas evidence for affected autistic girls is sparse. Therefore, a comprehensive gas chromatography mass spectrometry-based steroid hormone metabolite analysis was conducted from autistic girls. Results show increased levels of several steroid hormones, especially in the class of androgens in autistic girls such as testosterone or androstenediol. The increase of the majority of steroid hormones in autistic girls is probably best explained multifactorially by a higher substrate provision in line with the previously developed cholesterol hypothesis of autism.

Highlights

  • Several times, autism has been associated with altered steroid hormones and, in consequence, the hypothalamic pituitary adrenal (HPA) axis [1,2,3,4,5]

  • From a more comprehensive standpoint, some studies suggest the involvement of the corticotropin-releasing hormone (CRH)-adrenocorticotropic hormone (ACTH) system with additional alterations of adrenal gland metabolites in autistic disorders [5,17,18,19,20,21] (Figure 1)

  • While using the abovementioned methods, we present in this work the 39 most important relevant metabolites of the steroid hormone synthesis pathways (Tables 1 and 2)

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Summary

Introduction

Autism has been associated with altered steroid hormones and, in consequence, the hypothalamic pituitary adrenal (HPA) axis [1,2,3,4,5]. One hypothesis suggests increased substrate availability (cholesterol) yielding increased steroid hormones [6,7]. Alterations of these hormones subsequently impact the development of autism [6,7]. Several times, increased androgens were associated with autistic children, adolescents and adults [25,26,27,28,29] (Figure 1) Supporting these findings, salivary levels of steroids in prepubertal autistic male and female children and levels of several androgens were increased [30], and a positive correlation between testosterone and the severity of autism was subsequently implied [31]

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