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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.

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Gonadal Dysgenesis XY-Female type.

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Sporadic in most cases but may be X-linked in some cases.

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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.

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Clinical features. The finding of “streak gonads” at exploratory laparotomy is pathognomonic. Chromosomal study shows 46 XY karyotype. Sex chromatin study is negative.

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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.

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There are no specific anesthetic considerations.

Berta P, Hawkins J, Sinclair A, et al: Genetic evidence equating SRY and the testis-determining factor. Nature 348:448, 1990.  [PubMed: 2247149]
Chenke J, Carmichael R, Stewart J, et al: Familial XY gonadal dysgenesis. J Med Genet 7:105, 1970.

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