A condition that affects the development of
reproductive and genital organs. Patients present with a functioning Y
chromosome but without internal female organs because of an abnormality on
the X chromosome that renders the body completely or partially incapable of
recognizing the androgens produced.
Gonadal Dysgenesis XY-Female type.
Sporadic in most cases but may be X-linked in
There is evidence that most cases are caused by
point mutation or deletion of the SRY (sex-reversed, Y) gene on the Y
chromosome, which may actually be the TDF (testis-determining factor) gene.
Some cases may also be caused by a mutation on the X chromosome in the
region of Xp22.3-p21, termed SRVX (sex-reversed, X) locus.
Clinical features. The finding of “streak gonads” at
exploratory laparotomy is pathognomonic. Chromosomal study shows 46 XY
karyotype. Sex chromatin study is negative.
Patients appear to be normal female phenotype
from birth. However, they do not develop secondary sexual characteristics at
puberty, do not menstruate, and have “streak gonads.” Most have normal or
above-average stature and eunuchoidal proportion. Intelligence is normal.
The streak gonads have a high incidence of becoming malignant
(gonadoblastoma or germinoma), particularly in association with presence of
H-Y gene on the Y chromosome.
There are no specific anesthetic
Berta P, Hawkins J, Sinclair A, et al: Genetic evidence equating SRY and
the testis-determining factor. Nature
Chenke J, Carmichael R, Stewart J, et al: Familial XY gonadal dysgenesis. J Med Genet