Is there an embryo-fetal exogenous sex steroid exposure syndrome (EFESSES)?
A survey of all outpatient cases referred for genetic counseling during a 10-month period has revealed a history of preconceptional and early gestational exposure to maternally administerd sex hormones in 16 of 91 instances. Particular interest was aroused by 9 of these 16 cases, all of whom were children with dysmorphic features, no cytogenetic anomalies by Giemsa banding studies, and no recognizable clinical diagnosis. Similarities among them were striking and consisted of varying combinations of the following features: moderate growth retardation; mild to severe mental retardation; facial elongation with frontal bossing; primary telecanthus and downward-slanting palpebral fissures; broad, flat, nose bridge and pug nose; pouting lower lip and blunt, square chin; umbilical eversion; deep sacral pit; and, in males, moderate to severe external genital anomalies ranging from mild hypospadias to genital ambiguity. This may suggest the existence of an embryo-fetal exogenous sex steroid exposure syndrome.
D000014:Abnormalities, Drug-Induced / Q000209:etiology*; D000015:Abnormalities, Multiple / Q000139:chemically induced*; D005145:Face; D005260:Female; D005837:Genitalia, Male / Q000002:abnormalities*; D012739:Gonadal Steroid Hormones / Q000009:adverse effects*; D006728:Hormones / Q000009:adverse effects*; D006801:Humans; D007021:Hypospadias / Q000139:chemically induced; D008607:Intellectual Disability / Q000139:chemically induced*; D008297:Male; D011247:Pregnancy; D012447:Sacrum / Q000002:abnormalities; D013577:Syndrome
D012739:Gonadal Steroid Hormones; D006728:Hormones