The observable characteristics ( phenotype ) of this condition are highly variable, ranging from gonadal dysgenesis in males, to Turner-like females and phenotypically normal males.
12.
Blood tests for alpha-fetoprotein, karyotype, human chorionic gonadotropin, and liver function are used to diagnose germ cell tumor and potential co-occurring gonadal dysgenesis.
13.
In the 1950s, endocrinologists developed a basic understanding of the major intersex conditions such as congenital adrenal hyperplasia ( CAH ), androgen insensitivity syndrome, and mixed gonadal dysgenesis.
14.
For this reason, in gonadal dysgenesis the accompanying hormonal failure also prevents the development of secondary sex characteristics in either sex, resulting in a sexually infantile female appearance and infertility.
15.
The most common cause is low levels of estrogen ( hypoestrogenism ), which may result from chronic disease, radiation or chemotherapy, Poland syndrome, extreme physical activity, or gonadal dysgenesis.
16.
XX gonadal dysgenesis is related to the Swyer syndrome inasmuch as both conditions have the same phenotype and clinical issues; however in Swyer syndrome the karyotype is 46, XY, and thus gonadectomy is recommended.
17.
Another type of XX gonadal dysgenesis is known as 46, XX gonadal dysgenesis epibulbar dermoid, which follows the similar symptoms as the regular syndrome, though it also shows signs of epibulbar dermoid ( eye disorder ).
18.
Another type of XX gonadal dysgenesis is known as 46, XX gonadal dysgenesis epibulbar dermoid, which follows the similar symptoms as the regular syndrome, though it also shows signs of epibulbar dermoid ( eye disorder ).
19.
Thus Swyer syndrome is referred to as PGD, 46, XY, and XX gonadal dysgenesis as PGD, 46, XX . Patients with PGD have a normal karyotype but may have defects of a specific gene on a chromosome.
20.
Fausto-Sterling mentions the most common types of intersex, congenital adrenal hyperplasia ( CAH ), androgen insensitivity syndrome ( AIS ), gonadal dysgenesis, hypospadias, and unusual chromosome compositions such as XXY ( Klinefelter Syndrome ) or X0 ( Turner Syndrome ).
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