Uncovering steroidopathy in women with autism: a latent class analysis

Alexa Pohl,Simon Baron-Cohen,Bonnie Auyeung,Sarah Cassidy

doi:10.1186/2040-2392-5-27

Abstract

BackgroundPrenatal exposure to increased androgens has been implicated in both polycystic ovary syndrome (PCOS) and autism spectrum conditions (ASC), suggesting that PCOS may be increased among women with ASC. One study suggested elevated steroidopathic symptoms (‘steroidopathy’) in women with ASC. As the symptoms are not independent, we conducted a latent class analysis (LCA). The objectives of the current study are: (1) to test if these findings replicate in a larger sample; and (2) to use LCA to uncover affected clusters of women with ASC.MethodsWe tested two groups of women, screened using the Autism Spectrum Quotient - Group 1: n = 415 women with ASC (mean age 36.39 ± 11.98 years); and Group 2: n = 415 controls (mean age 39.96 ± 11.92 years). All participants completed the Testosterone-related Medical Questionnaire online. A multiple-group LCA was used to identify differences in latent class structure between women with ASC and controls.ResultsThere were significant differences in frequency of steroid-related conditions and symptoms between women with ASC and controls. A two-class semi-constrained model best fit the data. Based on response patterns, we identified the classes as ‘Typical’ and ‘Steroidopathic’. The prevalence of the ‘Steroidopathic’ class was significantly increased within the ASC group (ΔG2 = 15, df =1, P = 0.0001). In particular, we confirmed higher frequencies of epilepsy, amenorrhea, dysmenorrhea, severe acne, gender dysphoria, and transsexualism, and differences in sexual preference in women with ASC.ConclusionsWomen with ASC are at increased risk for symptoms and conditions linked to steroids. LCA revealed this steroidopathy despite the apparent underdiagnosis of PCOS.

Highlights

Prenatal exposure to increased androgens has been implicated in both polycystic ovary syndrome (PCOS) and autism spectrum conditions (ASC), suggesting that PCOS may be increased among women with ASC
Atypical levels of sex steroid hormones and their biosynthetic pathway have been associated with autism spectrum conditions (ASC) or associated with autistic traits in genetic [1,2,3], gene expression [4,5], serum [6,7], amniotic fluid [8] and 2D:4D ratio of 2nd digit to 4th digit [9] studies
Elevated levels of prenatal androgens such as fetal testosterone (FT) during a critical period are hypothesized to contribute to the etiology of ASC [10] as FT shapes neurological development [11,12,13]

Summary

Introduction

Prenatal exposure to increased androgens has been implicated in both polycystic ovary syndrome (PCOS) and autism spectrum conditions (ASC), suggesting that PCOS may be increased among women with ASC. CYP19A1 has been identified as a target of transcriptional regulators such as RORA, which is associated with autism [2], autoimmunity [22] and early age at menarche [23]. Another gene of interest in both autism [1] and female reproductive disorders [24] is CYP17A1, whose product 17α-hydroxylase/17,20 lysase/ 17,20-desmolase catalyzes several steroidogenic reactions

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