2007
DOI: 10.1159/000101190
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Spontaneous Ovulation in a True Hermaphrodite with Normal Male Phenotype and a Rare 46,XX/47,XXY Klinefelter’s Mosaic Karyotype

Abstract: Background: Most true hermaphrodite patients – characterized by the presence of both ovarian and testicular tis- sue – demonstrate ambiguous genitalia and are diagnosed at birth, most commonly bearing a 46,XX karyotype. Patient and Methods: We report on a 13-year-old boy presenting with left scrotal hemorrhage. He had a left inguinal hernia, a palpable testis in the right, normal male external genitalia and significant gynecomastia. During operation, the left gonad and adjacent tissue were removed for histolog… Show more

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Cited by 11 publications
(10 citation statements)
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“…Such mosaics are present in about 10% of men with Klinefelter’s syndrome (16). One man, however, had 47,XXY/46,XX, a much more unusual mosaicism (17,18). This finding was confirmed by both FISH and karyotype.…”
Section: Resultsmentioning
confidence: 99%
“…Such mosaics are present in about 10% of men with Klinefelter’s syndrome (16). One man, however, had 47,XXY/46,XX, a much more unusual mosaicism (17,18). This finding was confirmed by both FISH and karyotype.…”
Section: Resultsmentioning
confidence: 99%
“…Reproduction in most amniotic vertebrates, including humans, requires differentiation of testes or ovaries from bipotential anlagen [Kanaka-Gantenbein et al, 2007], although there are sporadic reports of individuals with both ovarian and testicular tissue reproducing successfully [Kim et al, 1979;Parvin, 1982;Minowada et al, 1984;Frankenhuis et al, 1990]. Further illustrating the rarity of intersexes, moles in the genus Talpa are the only known amniotes in which females develop ovotestes and are fully fertile [Zurita et al, 2007].…”
Section: Discussionmentioning
confidence: 99%
“…Unilateral and bilateral cryptorchidism were common at 65%. [5][6][7][8][9][10][11]14,15,18 Uterus was found in 79% (11/14) of the cases with male or ambiguous external genitalia (5 and 4). These uteri were bi or unicornuated and always possessed a fallopian tube on at least one side.…”
Section: Discussionmentioning
confidence: 99%
“…Clinical phenotypes and related findings of the present case and 18 additional patients identified from the literature during 1969 to 2019 were analyzed, as shown in ►Table 1. [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20] The age of presentation ranged from prenatal stage to 62 years. All but two patients were raised as male.…”
Section: Clinical Presentations Genital Phenotypes Gonadal Histologmentioning
confidence: 99%