True hermaphrodite: 46, ;XX/46, XY, clinical, cytogenetic and histopathological studies

@article{Shah1982TrueH4,
  title={True hermaphrodite: 46, ;XX/46, XY, clinical, cytogenetic and histopathological studies},
  author={V. C. Shah and D. S. Krishna Murthy and S. Roy and P. Contractor and A. V. Shah},
  journal={The Indian Journal of Pediatrics},
  year={1982},
  volume={49},
  pages={885-890}
}
A case of unilateral ovo-testicular intersex in a five year old phenotypically male child referred for ambiguous genitalia is reported. General abnormalities included a prominent phallus, fusion of labia, bifid scrotum, absence of urethral opening and corpus. Gonads were not palpable. X and Y chromatin was found to be positive. Chromosome studies revealed 46, XX!46, XY karyotype. Laparotomy findings confirmed true hermaphroditism. The findings are compared and discussed with cases reported in… Expand
4 Citations
Unilateral true hermaphrodite with 46,XX/46,XY dispermic chimerism.
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A 13 year old female presented with ambiguous external genitalia, right inguinal ovotestis, left ovary, apparently normal Mullerian system, and absent Wolffian system suggested that the patient is a true hermaphrodite dispermic chimera. Expand
True hermaphroditism: Geographical distribution, clinical findings, chromosomes and gonadal histology
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The most common gonad in patients with true hermaphroditism, an ovotestis, was found in 44.4% of 568 gonads, and Histologically the testicular tissue was described to be immature and only twice was spermatogenesis reported while the ovarian portion often appeared normal. Expand
Cytogenetic studies in a population suspected to have chromosomal abnormalities
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The results confirm the significant contribution of chromosomal abnormalities in the genesis of mental retardation, and abnormal sexual development. Expand
Interstitial del(13)(q21.3q31) associated with psychomotor retardation, eczema, and absent suck and swallowing reflex.
A patient with a deletion (13)(q21.3q31) showed only eczema and absent suck and swallowing reflex, in contrast to other well documented cases with a similar deletion. Apparently there is wideExpand

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The phenotypic features of patients with true hermaphrodite with 46,XX/46,XY chromosome complement indicate that embryonic testes, or ovotestes, are less competent than normal testes in müllerian duct suppression and masculinization of external genitalia. Expand
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