Births after Intracytoplasmic Injection of Sperm Obtained by Testicular Extraction from Men with Nonmosaic Klinefelter's Syndrome

Palermo, Gianpiero D.; Schlegel, Peter N.; Sills, E. Scott; Veeck, LL; Zaninović, Nikica; Menéndez, Sílvia; Rosenwaks, Zev

doi:10.1056/nejm199802263380905

Cited by 217 publications

(61 citation statements)

References 14 publications

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“…So, beside the psychological benefit for these patients to know the etiology of their infertility, detection of Klinefelter syndrome allows for androgenic substitutive therapy and follow-up for other health problems that can accompany this genetic problem. In our experience the majority of patients with Klinefelter syndrome chose assisted reproduction with a donor without reluctance, but some patients with nonmosaic Klinefelter syndrome can rely on ICSI with testicular sperm extraction after genetic counseling (Palermo et al, 1998;Reubinoff et al, 1998).…”

Section: Discussionmentioning

confidence: 97%

Cytogenetic Investigations of Infertile Men With Low Sperm Counts: A 25‐Year Experience

Vincent

Daudin

et al. 2002

Journal of Andrology

104

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Section: Discussionmentioning

confidence: 97%

Cytogenetic Investigations of Infertile Men With Low Sperm Counts: A 25‐Year Experience

Vincent

Daudin

et al. 2002

Journal of Andrology

104

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“…Most KS patients have small testes and azoospermia (no spermatozoa in the semen). The treatment for infertility in KS patients consists of the combination of testicular sperm extraction (TESE) with intracytoplasmic sperm injection (ICSI) (Palermo et al, 1998;Poulakis et al, 2001). Interestingly, Schiff et al performed micro-dissection TESE on 54 adult KS patients with azoospermia and successfully retrieved spermatozoa from 29 KS patients.…”

Section: Discussionmentioning

confidence: 99%

Transplanted XY germ cells produce spermatozoa in testes of XXY mice*

et al. 2010

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XXY mouse has been characterized as an experimental model for men with Klinefelter's syndrome (XXY male phenotype). To test whether donor XY germ cells could proliferate and differentiate in the XXY testicular environment, donor testicular cells from adult (2-3 months old) and immature (10 days old) XY green fluorescence protein (GFP) transgenic mice were transplanted into the seminiferous tubules of adult (4-7 months old) and young (6 weeks old) XXY recipient mice respectively. Twelve weeks after transplantation, GFP positive spermatogonia were found in 21.74% (five out of 23) of adult XXY recipients who received adult donor cells. The GFP positive segments of seminiferous tubules were observed in 44.44% (four out of nine) young XXY recipients who received donor cells from 10 days old GFP mice. We found using immunohistochemistry and cell morphology that donor-derived GFP positive germ cells were spermatogonia, spermatocytes, round spermatids and spermatozoa in some of the seminiferous tubules of young XXY recipient mice. The results demonstrated that the donor XY germ cells were able to qualitatively complete spermatogenesis in some of the seminiferous tubules of XXY mice.

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“…A recent study demonstrated gradual germ-cell depletion in early puberty as testicular volume increases, accompanied by a gradual increase of gonadotropin levels, explaining the resultant hypergonadotropic hypogonadism and infertility [22]. However, cases of proven paternity in mosaic or non-mosaic Klinefelter men have been documented, and assisted reproduction techniques with intracytoplasmic sperm injection (ICSI technique) offer the possibility of paternity even in cases of non-mosaic Klinefelter syndrome patients [23, 24]. However, increased incidence of chromosomal aneuploidies is documented in the offsprings of these men [25, 26].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2007

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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.

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Births after Intracytoplasmic Injection of Sperm Obtained by Testicular Extraction from Men with Nonmosaic Klinefelter's Syndrome

Cited by 217 publications

References 14 publications

Cytogenetic Investigations of Infertile Men With Low Sperm Counts: A 25‐Year Experience

Cytogenetic Investigations of Infertile Men With Low Sperm Counts: A 25‐Year Experience

Transplanted XY germ cells produce spermatozoa in testes of XXY mice*

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

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