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" ... But the skeletal evidence is not conclusive. Haddow and colleagues clarify that, beyond castration, other causes need to be considered. These involve a number of congenital conditions affecting the endocrine system, including sex chromosome abnormalities such as Klinefelter Syndrome or autosomal disorders such as Androgen Insensitivity Syndrome and an estrogen deficiency called aromatase deficiency. Because these conditions disrupt a person's hormonal balance and subsequent skeletal development in a similar way to pre-pubertal castration, it is difficult to differentiate among them. ... "
" ... Scientists have long known that mutations in the PCSK9 gene result in a rare form of autosomal dominant familial hypercholesterolemia. The disease is caused by a reduction in low-density lipoprotein (LDL). ... "