Various Genital and Reproductive Phenotypes in 46,XX/46,XY Chimeras.
Human chimeras
Male infertility
Ovotestis
Sex development
XX testicular DSD
Journal
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
ISSN: 1661-5433
Titre abrégé: Sex Dev
Pays: Switzerland
ID NLM: 101316472
Informations de publication
Date de publication:
2019
2019
Historique:
received:
04
05
2020
accepted:
27
07
2020
pubmed:
23
9
2020
medline:
23
9
2020
entrez:
22
9
2020
Statut:
ppublish
Résumé
Tetragametic chimeras are due to the fusion of 2 different zygotes after fertilization. When occurring between embryos of different chromosomal sex, the phenotype ranges from fertile individuals to infertile patients and even to patients with variations in sex development. Here, we report 3 new cases of XX/XY chimeras, one in a young boy carrying an abnormal gonad which turned out to be an ovary and 2 in phenotypically normal infertile men, one of whom had been diagnosed previously as a XX-SRY negative male. These cases highlight the importance of combining several cytogenetic and molecular techniques on different tissues for a proper diagnosis and an appropriate prognosis.
Identifiants
pubmed: 32961533
pii: 000510532
doi: 10.1159/000510532
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
271-277Informations de copyright
© 2020 S. Karger AG, Basel.