Signs and symptoms Aromatase excess syndrome

a 21-year-old male patient aes displaying symptoms of feminization , hypogonadism.



prepubertal gynecomastia in 2 siblings, 9-year-old boy (left) , 7.5-year-old girl (right), both due aes.

the symptoms of aes, in males, include heterosexual precocity (precocious puberty phenotypically-inappropriate secondary sexual characteristics; i.e., or feminized appearance), severe prepubertal or peripubertal gynecomastia (development of breasts in males before or around puberty), high-pitched voice, sparse facial hair, hypogonadism (dysfunctional gonads), oligozoospermia (low sperm count), small testes, micropenis (an ususually small penis), advanced bone maturation, earlier peak height velocity (an accelerated rate of growth in regards height), , short final stature due epiphyseal closure. incidence of gynecomastia appears 100%, 20 of 30 male cases opting mastectomy according review.

in females, symptoms of aes include isosexual precocity (precocious puberty phenotypically-appropriate secondary sexual characteristics), macromastia (excessively large breasts), enlarged uterus, menstrual irregularities, and, males, accelerated bone maturation , short final height. of 7 females described in 1 report, 3 had macromastia (rate of ~43%). 10-year-old girl gigantomastia has subsequently been described.[1]

fertility, though affected 1 degree or another—especially in males—is not impaired enough prevent sexual reproduction, evidenced vertical transmission of condition both sexes.