Table 3.

Prenatal Hormonal Environment and Links to Autism in Humans

Disorder or Treatment	Etiology/Exposure	Hormonal Phenotype or Exposure in the Fetus	Link to Autism/ASD
CAH	Deficiency in 21-hydroxylase	Elevated progestins, androgens in fetus	Mixed evidence for links to autism, although high prenatal androgens can masculinize behavior in females in some (but not all) studies
PCOS in pregnancy	Multifactorial	Elevated androgens in fetus, more so in females than males	Sons, no link; daughters, increased autistic-like behaviors; both, amniotic testosterone was positively correlated with autistic-like behaviors
Pharmaceutical progestins in pregnancy	Progestins administered during high-risk pregnancies	Elevated prenatal progestin (sometimes in combination with estrogens and/or androgens, depending upon nature/combination of the pharmaceutical)	Links to autism were not studied; some sexually dimorphic behaviors were affected
ART to facilitate pregnancy	Various, including ovulation-inducing drugs (clomiphene and gonadotropins/GnRHa)	Exposure of preconceptual ovum to various pharmaceuticals and/or altered maternal hormonal milieu	Slight but nonsignificant link between gonadotropins used in ART and ASD risk
SLOS	Mutation in DHCR7 gene	Deficiencies in steroid hormones including sex steroids, glucocorticoids, and mineralocorticoids	Children are microencephalic, and 50%–75% meet criteria for ASD