Recent experimental and clinical findings in the skeleton associated with loss of estrogen hormone or estrogen receptor activity.

[aromatase deficiency]

Studies on rodent models and rare human disorders of estrogen production or response have revealed an increased complexity of the actions of estrogen on bone . ERalpha disruption in human males results in delayed epiphyseal maturation , tall stature , trabecular thinning , marked cortical thinning , genu valgum and significantly reduced cortical vBMD , but trabecular number is preserved and there is normal to increased periosteal expansion . Aromatase deficiency results overall in a similar phenotype , although less is known about skeletal architecture . Importantly , estrogen replacement in these individuals , even if provided late in the third decade , may normalize aBMD . Less certain is whether there is complete recovery of normal skeletal architecture and strength . Rodent models , in general , are consistent with the human phenotype but are confounded by inherent differences between mouse and human physiology and issues regarding the completeness of the different knock-out lines . Both human and rodent studies suggest that residual effects of estrogen through ERbeta , truncated ERalpha forms or nonclassical estrogen receptors might account for different phenotypes in the hERKO man , aromatase deficient subjects and rodents . Importantly , androgen , particularly by preserving trabecular number and augmenting both periosteal and epiphyseal growth , also has significant actions on bone .

Diseases
Validation

Diseases presenting "tall stature" symptom

achondroplasia

aromatase deficiency

cohen syndrome

This symptom has already been validated