Case of 46,XX/47,XY, + 21 chimerism in a newborn infant with ambiguous genitalia

Sawai, Tomoko; Yoshimoto, Masaaki; Kinoshita, Eiichi; Baba, Toru; Matsumoto, Tadashi; Tsuji, Yoshiro; Fukuda, Shuji; Harada, Naoki; Niikawa, Norio

doi:10.1002/ajmg.1320490415

Cited by 19 publications

(21 citation statements)

References 8 publications

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“…Phenotypes of XX/XY chimeras range from normal fertile males 12,13 through males with hypospadias or ambiguous genitalia and hermaphroditism [14][15][16][17][18] and fertile female hermaphrodites 19 to phenotypically normal, fertile females. 20 This sparse literature is undoubtedly biased toward cases with sexual ambiguity or other gonadal problems, and many XX/XY chimeras may go unnoticed.…”

Section: Discussionmentioning

confidence: 99%

A True Hermaphrodite Chimera Resulting from Embryo Amalgamation after in Vitro Fertilization

et al. 1998

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IGH rates of successful pregnancy after in vitro fertilization depend on placing more than one embryo into the mother, a practice resulting in a 30-to-35-fold increase in dizygotic-twin deliveries. 1 Increased frequencies of twinassociated anomalies might also therefore be expected. Chimerism, the presence in a single person of cells derived from two or more zygotes, is one such rare anomaly. It is usually ascertained through anomalous blood-grouping results or (for XX/XY chimeras) sex reversal or intersex.We used DNA polymorphisms to investigate a 46,XX/46,XY hermaphrodite conceived by in vitro fertilization. We found not only that the child is a chimera, but also that he must have resulted from amalgamation of two embryos, each derived from an independent, separately fertilized ovum. CASE REPORTThe mother was a 31-year-old woman with primary infertility. Hormonal and laparoscopic investigation indicated a normal pelvis and normal ovulation. Her partner, who was 41 years old, had had a child by another partner but was severely oligozoospermic. The woman was given buserelin and human menopausal gonadotropins, after which 18 oocytes were harvested, of which 15 were fertilized in vitro with anonymous donor sperm and maintained in separate dishes. Two days after insemination (the fourcell stage), three embryos were transferred to the woman. Ultrasonography 36 days after transfer showed a single fetus and sac. A 3.46-kg infant was delivered vaginally at term; he had a normal right testis and an undescended left testis, with otherwise normal male genitalia. At the age of six months, the left testis was palpable at the inguinal ring. Surgical exploration at the age of 15 months revealed a hernial sac containing an abnormal gonad and vas deferens. These structures were excised; they proved on histologic examination to be an ovary with a fallopian tube attached H to a horn of uterus. Karyotyping of peripheral-blood lymphocytes then revealed two cell lines, one 46,XX and the other 46,XY.At the age of 20 months, the infant's serum follicle-stimulating hormone and luteinizing hormone concentrations were normal for his age, both basally and in response to gonadotropin-releasing hormone. The basal serum testosterone concentration was normal ( Ͻ 20 ng per deciliter [ Ͻ 0.7 nmol per liter]) and rose normally to 180 ng per deciliter (6.3 nmol per liter) three days after a single intramuscular injection of 2000 IU of human chorionic gonadotropin. Ultrasonography at three years eight months revealed an apparently normal right testis in the scrotum and normal kidneys, bladder, and pelvic structures. At laparoscopy at four years four months, the right vas deferens and testicular vessels appeared to be normal; no female genital structures were seen. A skin biopsy was performed. Subsequently, the child has grown and developed normally, with height at the 90th percentile and weight at the 75th percentile. He has no neurodevelopmental abnormalities, and he attends a regular school. METHODSInformed consent for all genetic investigations ...

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Section: Discussionmentioning

confidence: 99%

A True Hermaphrodite Chimera Resulting from Embryo Amalgamation after in Vitro Fertilization

et al. 1998

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“…The two arising different cell lines are randomly distributed in the body. These chimeras are usually detected by sex anomalies [7]; nevertheless, few cases of phenotypically normal male or female dispermic chimeras have been published [3,10,11]. Furthermore, cases of chimerism are described with unknown mechanism of development [9].…”

Section: Introductionmentioning

confidence: 93%

A dispermic chimerism in a 2-year-old Caucasian boy

Repas-Humpe¹,

Humpe

Lynen

et al. 1999

Annals of Hematology

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Detection of two different cell populations in a child is a rare event. The following case of a dispermic chimera was diagnosed before surgery due to problems in blood group determination. A 2-year-old phenotypically male child was admitted for correction of a penoscrotal hypospadia and unilateral cryptorchism. During presurgical laboratory investigation, difficulties in blood group determination occurred. Blood group typing was performed by the DiaMed-ID Micro Typing System and by FACS. Additionally, cytogenetic analysis of lymphocytes and analysis of DNA polymorphisms in different tissues were performed. Two populations of red blood cells were detected, O cells accounting for 75% and B cells for 25%. Analysis of DNA-PCR polymorphisms in lymphocytes, nails, and in cells of the oral mucous membrane demonstrated a chimerism, with two alleles inherited from the father and one from the mother. A cytogenetic analysis of cultured lymphocytes showed a mosaic 46, XY/46,XX. Surgery revealed a prostatic utricle grade III, also called pseudovagina; genitography confirmed a vagina. Bilateral gonad biopsy showed a testis on one side and an ovary on the other. This case of chimerism represents a true hermaphroditism that most probably developed by double fertilization of one or more egg nuclei by two sperms.

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“…The phenotypic expressions of such cases are variable. One case was shown to exhibit multiple congenital defects and anencephaly [6], another presented with ambiguous genitalia [5], and one exhibited with ambiguous genitalia but no clinical features of Down syndrome [4]. Genetic counseling for sex-chromosome discordant chimeras with or without trisomy 21 can be extremely difficult.…”

Section: Resultsmentioning

confidence: 99%

“…Only four cases of sex-chromosome discordant chimerism with trisomy 21 have been reported to date. One was a true hermaphrodite [4], one was a newborn infant with ambiguous genitalia [5], and other two cases had normal gonads [6,7]. Three cases harbored an extra chromosome 21 in their XY lineages [4-6], and one case had mosaicism in the XX lineage [7].…”

Section: Introductionmentioning

confidence: 99%

The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia

et al. 2012

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BackgroundApproximately 30 sex-chromosome discordant chimera cases have been reported to date, of which only four cases carried trisomy 21. Here, we present an additional case, an aborted fetus with a karyotype of 47,XX, +21/46,XY.Case presentationAutopsy demonstrated that this fetus was normally developed and had male genitalia. Major characteristics of Down syndrome were not observed except an enlarged gap between the first and second toes. Karyotyping of tissues cultured from the fetus revealed the same chimeric chromosomal composition detected in the amniotic fluid but with a different ratio of [47,XX,+21] to [46,XY]. Further short tandem repeat analysis indicated a double paternal contribution and single maternal contribution to the fetus, with the additional chromosome 21 in the [47,XX,+21] cell lineage originating from the paternal side.ConclusionWe thus propose that this chimeric fetus was formed via the dispermic fertilization of a parthenogenetic ovum with one (Y) sperm and one (X,+21) sperm.

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Case of 46,XX/47,XY, + 21 chimerism in a newborn infant with ambiguous genitalia

Cited by 19 publications

References 8 publications

A True Hermaphrodite Chimera Resulting from Embryo Amalgamation after in Vitro Fertilization

A True Hermaphrodite Chimera Resulting from Embryo Amalgamation after in Vitro Fertilization

A dispermic chimerism in a 2-year-old Caucasian boy

The identification of a spontaneous 47, XX, +21/46, XY chimeric fetus with male genitalia

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