Polycystic ovary syndrome and autism: A test of the prenatal sex steroid theory

“…Reproductive system diagnoses (PCOS, PMS, anovulation, ovarian cancer, and uterine cancer) were found to be significant predictors of both having an autism diagnosis and autistic traits in this study’s population of women, when examined as a group. This finding is in accordance with previous studies reporting higher rates of PCOS, ovarian cancer, genitourinary cancer, and family history of uterine neoplasms (benign or cancerous) in autism (Cherskov et al, 2018; Chiang et al, 2015; Hergüner et al, 2012; Ingudomnukul et al, 2007; Pohl et al, 2014). Although the common etiology for this diverse group of conditions is unclear, it most likely involves an interplay between genetic susceptibility and sex-steroid signaling.…”

“…Our results also support the previously observed independent associations between hypertensive disorders of pregnancy and PCOS and child neurodevelopmental outcomes ( 25 – 29 , 35 , 37 , 40 – 43 ). Different from prior studies, we combined pregnancies affected by hypertension and/or PCOS into one exposure group.…”

“…This is in line with clinical findings indicating that autistic females may be characterized by a relative imbalance between androgens and estrogens, rather than high steroid levels across all pathways (95,96). Conditions related to androgen/ estrogen imbalances in females (e.g., polycystic ovary syndrome) have previously been linked to autism likelihood in both mothers and their children (97)(98)(99)(100).Further ,estrogenregulated signaling can influence region-specificn e u r odevelopmental male shifts and affect neuronal excitation (101)(102)(103), but more studies are needed to demonstrate this in human-derived cell models. Thus, the enrichment effects in IP, RG, and DHT in autistic males and in excitatory neuronal cell types and estrogen in autistic females may be relevant to the overall idea that one key emergent phenomenon of brain masculinization is the effect it has on excitation-inhibition imbalance (104), with potentially different underlying sexsteroid-related mechanisms in autistic males and females (90).…”

“…Reproductive system diagnoses (PCOS, PMS, anovulation, ovarian cancer, and uterine cancer) were found to be significant predictors of both having an autism diagnosis and autistic traits in this study’s population of women, when examined as a group. This finding is in accordance with previous studies reporting higher rates of PCOS, ovarian cancer, genitourinary cancer, and family history of uterine neoplasms (benign or cancerous) in autism (Cherskov et al, 2018; Chiang et al, 2015; Hergüner et al, 2012; Ingudomnukul et al, 2007; Pohl et al, 2014). Although the common etiology for this diverse group of conditions is unclear, it most likely involves an interplay between genetic susceptibility and sex-steroid signaling.…”

“…Our results also support the previously observed independent associations between hypertensive disorders of pregnancy and PCOS and child neurodevelopmental outcomes ( 25 – 29 , 35 , 37 , 40 – 43 ). Different from prior studies, we combined pregnancies affected by hypertension and/or PCOS into one exposure group.…”

“…This is in line with clinical findings indicating that autistic females may be characterized by a relative imbalance between androgens and estrogens, rather than high steroid levels across all pathways (95,96). Conditions related to androgen/ estrogen imbalances in females (e.g., polycystic ovary syndrome) have previously been linked to autism likelihood in both mothers and their children (97)(98)(99)(100).Further ,estrogenregulated signaling can influence region-specificn e u r odevelopmental male shifts and affect neuronal excitation (101)(102)(103), but more studies are needed to demonstrate this in human-derived cell models. Thus, the enrichment effects in IP, RG, and DHT in autistic males and in excitatory neuronal cell types and estrogen in autistic females may be relevant to the overall idea that one key emergent phenomenon of brain masculinization is the effect it has on excitation-inhibition imbalance (104), with potentially different underlying sexsteroid-related mechanisms in autistic males and females (90).…”

“…Reproductive system diagnoses (PCOS, PMS, anovulation, ovarian cancer, and uterine cancer) were found to be significant predictors of both having an autism diagnosis and autistic traits in this study’s population of women, when examined as a group. This finding is in accordance with previous studies reporting higher rates of PCOS, ovarian cancer, genitourinary cancer, and family history of uterine neoplasms (benign or cancerous) in autism (Cherskov et al, 2018; Chiang et al, 2015; Hergüner et al, 2012; Ingudomnukul et al, 2007; Pohl et al, 2014). Although the common etiology for this diverse group of conditions is unclear, it most likely involves an interplay between genetic susceptibility and sex-steroid signaling.…”

“…Our results also support the previously observed independent associations between hypertensive disorders of pregnancy and PCOS and child neurodevelopmental outcomes ( 25 – 29 , 35 , 37 , 40 – 43 ). Different from prior studies, we combined pregnancies affected by hypertension and/or PCOS into one exposure group.…”

“…This is in line with clinical findings indicating that autistic females may be characterized by a relative imbalance between androgens and estrogens, rather than high steroid levels across all pathways (95,96). Conditions related to androgen/ estrogen imbalances in females (e.g., polycystic ovary syndrome) have previously been linked to autism likelihood in both mothers and their children (97)(98)(99)(100).Further ,estrogenregulated signaling can influence region-specificn e u r odevelopmental male shifts and affect neuronal excitation (101)(102)(103), but more studies are needed to demonstrate this in human-derived cell models. Thus, the enrichment effects in IP, RG, and DHT in autistic males and in excitatory neuronal cell types and estrogen in autistic females may be relevant to the overall idea that one key emergent phenomenon of brain masculinization is the effect it has on excitation-inhibition imbalance (104), with potentially different underlying sexsteroid-related mechanisms in autistic males and females (90).…”