Molecular biologic analyses of tetragametic chimerism in a true hermaphrodite with 46,XX/46,XY

Uehara, Shigeki; Nata, Masayuki; Nagae, Mikiko; Sagisaka, Kaoru; Okamura, Koji; Yajima, Akira

doi:10.1016/s0015-0282(16)57317-8

Cited by 39 publications

(18 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Different hypotheses have been proposed to explain whether it is generated by chimerism (two cellular lines from different zygotes) or by mosaicism (different cell lines derived from the same zygote) [11,12,13]. At present, the analysis of DNA polymorphisms allows to distinguish both maternal and paternal contributions to the genotype [11, 12, 14]. In the present case, we analyzed seven scoreboards (6 of them in autosomes and 1 in the X chromosome).…”

Section: Discussionmentioning

confidence: 99%

True Hermaphroditism in a Phenotypic Male without Ambiguous Genitalia: An Unusual Presentation at Puberty

Alonso¹,

Pasqualini²,

Busaniche³

et al. 2007

Horm Res Paediatr

View full text Add to dashboard Cite

True hermaphroditism usually appears with ambiguous genitalia requiring extensive evaluation during the neonatal period. There have been occasional cases with better differentiation of external genitalia, leading to delays in diagnosis. We report the case of an adolescent boy with true hermaphroditism who presented with normal external genitalia and no sexual ambiguity. He was referred due to progressive gynecomastia and arrest of puberty. He presented at the age of 16 years for gynecomastia of rapid progression with normal penile development and both gonads in scrotum and normal testosterone and increased gonadotropin levels. Gonadal ultrasound scan was compatible with testicular and ovarian tissues in scrotum, and the karyotype showed two cellular lines (46,XX/46,XY). Gonadal histology revealed bilateral ovotestes. A genotype polymerase chain reaction mediated analysis using seven microsatellite markers did not confirm chimerism. Clinical findings and mechanism of generation are discussed.

show abstract

Section: Discussionmentioning

confidence: 99%

True Hermaphroditism in a Phenotypic Male without Ambiguous Genitalia: An Unusual Presentation at Puberty

Alonso¹,

Pasqualini²,

Busaniche³

et al. 2007

Horm Res Paediatr

View full text Add to dashboard Cite

show abstract

“…Mosaicism may arise through postzygotic non-dysjunction in a 46,XY conceptus or by multiple non-dysjunction events in an embryo with a pre-existing chromosome abnormality, such as 47,XXY (Niu et al 2002). Previous case reports have implicated fusion of two embryos to form a tetragametic chimera (Uehara et al 1995;Strain et al 1998), fertilization of an ovum and a large polar body by two diVerent sperm (Dewald et al 1980;RepasHumpe et al 1999), and fertilization of an ovum that has undergone immediate cleavage prior to fertilization by two diVerent sperm, as the mechanism underlying chimerism (Strain et al 1995;Giltay et al 1998). Although fertilization of a parthenogenetically activated ovum by two sperm has previously been implicated in TH (Giltay et al 1998), the current case is unique in its association with a spontaneously conceived, viable twin pregnancy.…”

Section: Discussionmentioning

confidence: 99%

A case of true hermaphroditism reveals an unusual mechanism of twinning

et al. 2006

View full text Add to dashboard Cite

Traditionally twins are classified as dizygous or fraternal and monozygous or identical (Hall Twinning, 362, 2003 and 735-743). We report a rare case of 46,XX/46,XY twins: Twin A presented with ambiguous genitalia and Twin B was a phenotypically normal male. These twins demonstrate a third, previously unreported mechanism for twinning. The twins underwent initial investigation with 17-hydroxyprogesterone and testosterone levels, pelvic ultrasound and diagnostic laparoscopy. Cytogenetic analysis was performed on peripheral blood cells and skin fibroblasts. Histological examination and Fluorescence in situ hybridization studies on touch imprints were performed on gonadal biopsies. DNA analysis using more than 6,000 DNA markers was performed on skin fibroblast samples from the twins and on peripheral blood samples from both parents. Twin A was determined to be a true hermaphrodite and Twin B an apparently normal male. Both twins had a 46,XX/46,XY chromosome complement in peripheral lymphocytes, skin fibroblasts, and gonadal biopsies. The proportion of XX to XY cells varied between the twins and the tissues evaluated. Most significantly the twins shared 100% of maternal alleles and approximately 50% of paternal alleles in DNA analysis of skin fibroblasts. The twins are chimeric and share a single genetic contribution from their mother but have two genetic contributions from their father thus supporting the existence of a third, previously unreported type of twinning.

show abstract

“…The term ‘true hermaphrodite’ implies the presence of both ovarian and testicular tissue and this condition is extremely rare in man (Meyers‐Wallen and Patterson, 1988; Uehara et al., 1995; Cotran et al., 1999). A pseudohermaphrodite shows a disagreement between phenotypic and gonadal sex (Cotran et al., 1999).…”

Section: Discussionmentioning

confidence: 99%

Two Cases of Spontaneous Pseudohermaphroditism in Cynomolgus Monkeys (Macaca fascicularis)

Pasello-Legrand¹,

Mowat²

2004

Journal of Veterinary Medicine Series A

View full text Add to dashboard Cite

Disorders of genital development occur in all mammals. Hermaphroditism is a condition where the subject has genital organs of both sexes. True hermaphrodites have both ovarian and testicular tissue. Pseudohermaphrodites have only one type of gonadal tissue according to which they are classified as male or female pseudohermaphrodites. Two cases of spontaneously occurring pseudohermaphroditism in Cynomolgus monkeys (Macaca fascicularis) were seen here during 1999-2001. Both animals had female external genitalia, but each was found to have testicular tissue.

show abstract

Molecular biologic analyses of tetragametic chimerism in a true hermaphrodite with 46,XX/46,XY

Cited by 39 publications

References 5 publications

True Hermaphroditism in a Phenotypic Male without Ambiguous Genitalia: An Unusual Presentation at Puberty

True Hermaphroditism in a Phenotypic Male without Ambiguous Genitalia: An Unusual Presentation at Puberty

A case of true hermaphroditism reveals an unusual mechanism of twinning

Two Cases of Spontaneous Pseudohermaphroditism in Cynomolgus Monkeys (Macaca fascicularis)

Contact Info

Product

Resources

About