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 histological examination, which revealed the presence of a normal ovary, rich in follicles and a ruptured corpus luteum, suggestive of spontaneous ovulation, with a normal ipsilateral adnexa and semi-uterus. Biopsy of the right gonad revealed a dysgenetic testicle. Endocrinological assessment postoperatively depicted high FSH, pubertal testosterone and low estradiol levels. Cytogenetic analysis in peripheral blood lymphocytes and FISH of the right gonad revealed a 46,XX (70–60%)/47,XXY (30–40%) karyotype, respectively, while molecular analysis verified the presence of SRY and azoospermia factor genes. Conclusion: The importance of full histological, cytogenetic and molecular investigation and of interdisciplinary approach in every single patient with sex differentiation disorders is highlighted by this rare case of spontaneous ovulation in a true hermaphrodite with normal male external genitalia and Klinefelter mosaicism.

Klinefelter’s syndrome (47,XXY) among men with systemic lupus erythematosus

“…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.…”

Expression of Putative Sex-Determining Genes during the Thermosensitive Period of Gonad Development in the Snapping Turtle, <i>Chelydra serpentina</i>

“…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].…”

Klinefelter Syndrome Mosaicism 46,XX/47,XXY: A New Case and Literature Review

“…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.…”

“…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.…”