Testicular Feminization Syndrome
نویسنده
چکیده
Testicular feminization syndrome (TFS) represents a well-defined form of male pseudohermaphroditism. The patients are of female legal sex. The habitus is completely and often attractively feminine, with well-developed breasts. There is absence of axillary and pubic hair. The external genitalia are female but with a blind vagina. At laparotomy the uterus and Fallopian tubes are found to be absent, except in a few cases in which a vestigial rudimentary uterus is present. Testes of almost normal size, in some cases with a well-developed epididymis, are found in the abdominal cavity or in the inguinal canals (Goldberg and Maxwell, 1948; Wachstein and Scorza, 1951; Morris, 1953; Hauser, 1963; Morris and Mahesh, 1963; Zourlas and Jones, 1965; Pion and Dignam, 1966). Analysis of pedigrees shows that this condition, transmitted by normal females to some of their male descendants, is inherited either as an autosomal dominant male-limited character or as X-linked recessive character. These two possibilities cannot be distinguished by pedigree studies because the affected individuals are sterile. More than 50 cases have so far been tested cytogenetically and only in a few were chromosomal abnormalities found: a case mentioned by Morris and Mahesh (1963) and Miller (1964), with XO/ XY/XX mosaicism, a case with a possible XXXY chromosomal complement (Botella-Llusia, ClaveroNunez, and Nogales, 1964), a case with XY/XYY/ XXY mosaicism (Forsberg, Hall, and Ryden, 1965), a case of 46/47 mosaicism with XXY complement or 21-22 trisomy (Vague et al., 1966), and a case with XO/XY/XXY mosaicism (Uozumi et al., 1967). All other reported cases had an XY sex chromosome pair (see Philip and Sele, 1965; Zourlas and Jones, 1965). Thus chromosomal
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Seminoma arising in androgen insensitivity syndrome (testicular feminization syndrome): A case report
Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal woman with male karyotype (XY). The undescended testis may go into malignant transformation. The androgen insensitivity syndrome with malignant testicular disorder is very rare. A thirty-one year old female was admitted to the hospital with the co...
متن کاملPsychological aspects of the testicular feminization syndrome.
Two cases of testicular feminization are reported, in sisters. One sister was hospitalized for a polymorphous neurotic reaction; the other was apparentlyhealthy, with certain masculinoid traits in her behavior. Certain aspects of the personality structures of intersexed individuals are discussed, with special reference to the testicular feminization syndrome and to the way in which psychosexual...
متن کاملIntra-Abdominal Testicular Seminoma in a Woman with Testicular Feminization Syndrome
We report a case of intra-abdominal testicular tumor in a 36-year-old married lady presenting with chief complaints of primary amenorrhea. The patient was later diagnosed with testicular feminization syndrome, a form of male pseudohermaphroditism. This testicular tumor was histologically proven as seminoma. Due to rarity, imaging findings in patients with testicular feminization syndrome and in...
متن کاملAndrogen insensitivity syndrome (testicular feminization).
Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal women with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and sparse or absent pubic hair and axillary hair. These patients have male karyotype (XY) and negative sex chromatin. The gonad (undesce...
متن کاملTesticular feminisation syndrome presenting in the newborn.
Testicular feminisation syndrome in a neonate was confirmed by cytogenetic studies. Karyotype analysis in 2 phenotypically female siblings showed the presence of the disorder in the 2 year old sibling. Subsequently a fourth phenotypically female sibling showed the disorder.
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