Unilateral true hermaphrodite with 46,XX/46,XY dispermic chimerism.

Fårag, T I; Al-Awadi, S A; Tippett, Patricia; el-Sayed, M; Sundareshan, T.S.; Al-Othman, S A; el-Badramany, M H

doi:10.1136/jmg.24.12.784

Cited by 13 publications

(8 citation statements)

References 14 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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“…There is, however, a great degree of phenotypic variation observed in these individuals. It varies from a normal male or female phenotype often associated with sterility (4-6) to different degrees of ambiguous genitalia (4,(7)(8)(9)(10)(11). Often patients are infertile, even though offspring have been observed in a few men (12,13) and women (6,14).…”

Section: Mode Of Ascertainmentmentioning

confidence: 99%

Chimera and other fertilization errors

2006

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The finding of a mixture of 46,XX and 46,XY cells in an individual has been rarely reported in literature. It usually results in individuals with ambiguous genitalia. Approximately 10% of true human hermaphrodites show this type of karyotype. However, the underlying mechanisms are poorly understood. It may be the result of mosaicism or chimerism. By definition, a chimera is produced by the fusion of two different zygotes in a single embryo, while a mosaic contains genetically different cells issued from a single zygote. Several mechanisms are involved in the production of chimera. Stricto sensu, chimerism occurs from the post-zygotic fusion of two distinct embryos leading to a tetragametic chimera. In addition, there are other entities, which are also referred to as chimera: parthenogenetic chimera and chimera resulting from fertilization of the second polar body. Furthermore, a particular type of chimera called 'androgenetic chimera' recently described in fetuses with placental mesenchymal dysplasia and in rare patients with Beckwith-Wiedemann syndrome is discussed. Strategies to study mechanisms leading to the production of chimera and mosaics are also proposed.

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“…Most of the cases of hermaphroditism present with ambiguous genitalia 9–13 . Investigations of true hermaphroditism have revealed several different etiologies with 46,XX, 46,XY, and 46,XX/46,XY karyotypes.…”

Section: Introductionmentioning

confidence: 99%

“…Most of the cases of hermaphroditism present with ambiguous genitalia. [9][10][11][12][13] Investigations of true hermaphroditism have revealed several different etiologies with 46,XX, 46,XY, and 46,XX/46,XY karyotypes. In all large studies the majority of true hermaphrodites have a 46,XX karyotype, and this varies between 60 and 100%, with the higher frequencies in the African cohorts.…”

Section: Introductionmentioning

confidence: 99%

Chimerism in Black Southern African Patients with True Hermaphroditism 46,XX/47XY,+21 and 46,XX/46,XY

Ramsay

Pfaffenzeller

Kotze

et al. 2008

Annals of the New York Academy of Sciences

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True hermaphroditism is defined by the presence of both testicular and ovarian tissue in an individual. True hermaphrodites usually present at birth with ambiguous genitalia, and subsequent invasive investigations are needed to confirm the diagnosis. Several large cohorts of black South Africans with true hermaphroditism have been described, and by far the majority of those investigated had a 46,XX karyotype, with absence of the SRY sequence. This paper represents the first report of the molecular investigation of mosiacism/chimerism as the cause of hermaphroditism in black southern African patients. It is the second report worldwide of a 46,XX/47,XY,+21 chimera, with the first described in a Japanese infant in 1994. Case 1 in the present study is a child who is a 46,XX/47,XY,+21 tetragametic chimera. Molecular studies revealed two paternal and two maternal alleles at four of ten STR loci investigated and three alleles at four of these loci. The young boy exhibited no features of Down syndrome, other than a unilateral single palmar crease. Cases 2 and 3 both have a 46,XX/46,XY karyotype. Chimerism is supported by molecular analysis in Case 2, and molecular studies were not done for Case 3.

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Unilateral true hermaphrodite with 46,XX/46,XY dispermic chimerism.

Cited by 13 publications

References 14 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

Chimera and other fertilization errors

Chimerism in Black Southern African Patients with True Hermaphroditism 46,XX/47XY,+21 and 46,XX/46,XY

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