Clinical and Genetic Analysis of an Infertile Male with 46,XX/46,XY Chimerism

Choi, Eun Jung; Kim, Sook Ryung; Kim, Young Joo; Kang, Soo Man; Kim, Jin Chul; Kim, Jong Hyun; Lee, Young Jin

doi:10.1111/and.13215

Cited by 4 publications

(4 citation statements)

References 16 publications

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“…It is thought that the degree of testicularisation of the developing gonad is determined by its ratio of XY versus XX germ line cells. Thus, the development of the external and internal genitalia of those individuals affected by chimerism of cell lines with different sex chromosome constitutions varies widely, appearing either inconspicuously male or female or showing different degrees of ambiguous genitalia [Choi et al, 2019]. Due to their mutual state of XX/XY chimerism, both twins in this case are to be considered genetically intersexual, even though one appears female at first glance.…”

Section: Discussionmentioning

confidence: 94%

Intersexual Twins due to Tetragametic Chimerism

Wimmer

Neumann

Weber

et al. 2022

Cytogenet Genome Res

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Disorders of or differences in sexual development (DSD) are defined by congenital conditions in which development of chromosomal, gonadal, or anatomic sex are atypical. Here, we report on monochorionic diamniotic twins delivered by Caesarean section in the 36th week of pregnancy. Monochorionic twins are usually monozygous and thus should have the same sexual differentiation. In this case, one twin had female external genitalia, while the other showed ambiguous genitalia. At first, a diagnosis of mixed gonadal dysgenesis was proposed because of the obvious sexual discrepancy between the supposedly monozygous twins. Cytogenetic analyses were performed to assure the sex chromosome status for both children. Male and female cells were found subsequently in both children. While hematopoietic chimerism of monochorionic dizygous twins as a result of twin-to-twin blood transfusion is a rare but already well documented phenomenon, to our knowledge this is the first case description of tetragametic chimerism that led to intersexuality.

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Section: Discussionmentioning

confidence: 94%

Intersexual Twins due to Tetragametic Chimerism

Wimmer

Neumann

Weber

et al. 2022

Cytogenet Genome Res

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“…The sex chromosome-discordant chimeras 46,XX/46,XY is a rare condition found in humans with mostly with a phenotypically normal appearance, and sometimes ambiguous genital organs. This lack of phenotypic changes and the rarity of chimeras make it difficult to identify its exact incidence [8].…”

Section: Management Challenges Of Disorders Of Sex Development-case S...mentioning

confidence: 99%

Management challenges of disorders of sex development- Case Series

Tuyishimire¹,

Irere²,

Rutagarama³

et al. 2022

rmj

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INTRODUCTION: Disorders of sex development (DSDs) are genetic abnormalities characterized by discordance between phenotypic, gonadal, and genetic sex. They are grouped into two categories based on karyotype: 46, XX DSD and 46, XY DSD.CASES: We reviewed two patients referred to the Rwanda Military Hospital genetic unit. The first patient was a 3-year-old toddler who was referred for confusing sex organs. Physical examination showed ambiguous genital organs with hypospadias and micropenis. Pelvic examination showed a swelling solid mass hat leading to a suspicion of ovary or undescended testes or combined ovary and testes (ovotestes). The second patient was a 17 years old teenager who presented with primary amenorrhea and lack of female secondary sexual characteristics at her age. The karyotype test was performed to investigate the genotypic sex of the patients and results revealed the karyotype formula of 46, XX/XY indicating the presence of two cell lines in the patient for the toddler and 46XYinv9 (p11q13) indicating the mismatch between the genotype and phenotype of the patients for the teenager. CONCLUSION: Patients were diagnosed with Disorder of Sex Development with 46, XX/XY and 46, XY genotypes respectively. A multidisciplinary team of a geneticist, urologist, endocrinologist and a psychologist reviewed the patient for the effective management.

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“…There is no precise information about the prevalence of mosaicism and chimerism, due to the failure in identification of the condition or neglecting the importance of molecular investigations into possible signs of mosaicism or chimerism in patients. A wide phenotypic spectrum of mosaicism and chimerism added to the difficulty of identification of this phenomenon, since many of the cases are phenotypically normal male (Choi et al, ) or female (Yu et al, ) Interestingly, many of the affected individuals were accidentally discovered through blood typing (Hong et al, ), short tandem repeats (STR) analysis for paternity (Miozzo et al, ) and forensic studies (Castella, Del Mar Lesta, & Mangin, ) or in the process of histocompatibility testing (Yu et al, ). The first case of chimera, reported by Dunsford et al (), discovered during a routine blood group testing, in which mixed cell population was detected in patient's blood samples (Dunsford et al, ).…”

Section: Introductionmentioning

confidence: 99%

Rare case of an oligospermic male with 46,XX/46,XY tetragametic chimerism

et al. 2019

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Chimerism, a rare human disorder, is assumed to be the result of an amalgamation of two separate zygotes in a single embryo. Studies have shown that the phenotypic spectrum of chimerism is variable and there is no definite genotype-phenotype correlation in patients with chimerism, therefore a majority of cases might remain undiagnosed. This study aims to investigate the possible mechanism of the chimerism in a 46,XX/46,XY infertile and phenotypically normal male, with 46,XX blood karyotype and normal spermatogenesis. We have used Interphase-FISH analysis to study the CEPX and CEPY regions on buccal and urine samples as well as molecular analysis of polymorphic short tandem repeats (STR) markers from 34 loci in order to discover the origin of 46,XX/46,XY. Analysis of X-linked and autosomal STR markers on blood, buccal tissue, urine, fibroblast and testis biopsy samples of the proband along with the blood sample of the patient's parents and siblings, showed divergent karyotypes in different tissues and tetragametic chimerism was diagnosed. K E Y W O R D Scongenital chimera, male infertility, short tandem repeats markers, tetragametic chimerism

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Clinical and Genetic Analysis of an Infertile Male with 46,XX/46,XY Chimerism

Cited by 4 publications

References 16 publications

Intersexual Twins due to Tetragametic Chimerism

Intersexual Twins due to Tetragametic Chimerism

Management challenges of disorders of sex development- Case Series

Rare case of an oligospermic male with 46,XX/46,XY tetragametic chimerism

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