A novel mutation in the human aromatase gene: Insights on the relationship among serum estradiol, longitudinal growth and bone mineral density in an adult man under estrogen replacement treatment

The role of estrogen receptor-α and its activation function-1 for growth plate closure in female mice

“…We have previously demonstrated that male mice with complete ER␣ inactivation, with no remaining truncated ER␣ transcripts, display reduced longitudinal bone growth during sexual maturation associated with reduced serum IGF-I levels (2). The low IGF-I levels in these mice are in accordance with the impaired growth hormone (GH) secretion and low IGF-I levels in male aromatase-deficient patients (19). In contrast, the female mice with complete ER␣ inactivation were, in the present study, shown to have a normal longitudinal bone growth during sexual maturation and normal serum IGF-I levels.…”

“…The mechanisms of action for these two seemingly opposite effects of estrogens on longitudinal bone growth are not fully understood but clearly depend on maturational stage and serum levels of E 2 (2,4,10,14). E 2 treatment is used to induce growth plate fusion in aromatase-deficient patients, and it has been shown that growth plate fusion only occurs when the E 2 serum levels are above a certain E 2 "threshold" (15,19). This finding indicates that growth plate fusion is initiated when a certain E 2 threshold is reached during the pubertal development.…”

High aromatase activity in hypogonadal men is associated with higher spine bone mineral density, increased truncal fat and reduced lean mass

“…Prior studies have suggested a skeletal threshold for serum E 2 in men (34,35,36,37,38). In a review by Rochira et al (37), the authors identified a threshold between 15 and 25 pg/ml, whereas Khosla et al (38) suggested a threshold between 20 and 25 pg/ml using immunoassays and 16 pg/ml using mass spectroscopy.…”

Teasing out the role of aromatase in the healthy and diseased testis

“…46 76 and in some cases cryptorchidism is evident. 73,74 The lack of patient consent for human ejaculate samples and testicular biopsies hampers the ability to draw solid conclusions about the effect of aromatase deficiency on spermatogenesis, but from the data that is available it appears a lack of aromatase is associated with Sertoli cell only syndrome, 74 hypospermatogenesis, 75 oligospermia, 46,47 reduced sperm motility 47 and complete sperm immobility, 46 many of which are in concert with findings from the ArKO model (reviewed in ref. 6)· Further qualitative analyses on the histological architecture of the testis noted seminiferous tubules of normal appearance 75 and those that were hypotrophic.…”