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

  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},
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.
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
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
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


True Hermaphroditism with 46,XX/46,XY Chromosome Complement Report of a Case
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
A 20-yr-old chromatin-positive true hermaphrodite, raised as a boy, presenting with breast development and menstruation, is described, who had a left ovary and a right ovotestis, suggesting that the XX/XY mosaicism was due to double fertilization of the ovum. Expand
Evidence of XX-XY sex chromosome mosaicism in a child with true hermaphroditism.
This work describes a further true hermaphrodite who has both XX and XY cells and describes the most interesting mosaic constitution is XX/XY. Expand
A true hermaphrodite dispermic chimera with 46, XX and 46, XY karyotypes
A 16‐year‐old male with hypospadias and gynaecomastia had a rudimentary uterus with a right Fallopian tube and ovary; the left gonad was a functioning testis and extensive investigations failed to demonstrate blood cell and serum chimerism, but there was little genetic variation of these characters between family members. Expand
True hermaphroditism and chimerism. A case report.
A case of true hermaphroditism is reported with feminine habitus, ovotestis, and XX/XY cell admixture, and diagnosis of the existence of two cell lines was enhanced by the use of the quinacrine mustard fluorescent technique. Expand
Origin of chi46,XX/46,XY chimerism in a human true hermaphrodite.
Using chromosome heteromorphisms and blood cell types as genetic markers, chimerism in a chi46,XX/46,XY true hermaphrodite is demonstrated and it is concluded that this individual was probably conceived by the fertilization, by two different spermatozoa, of an ovum and the second meiotic division polar body derived from the Ovum and subsequent fusion of the two zygotes. Expand
Two Populations of Erythrocytes Associated with XX/XY Mosaicism
A 12‐year‐old boy with a ventricular septal defect was found to have two populations of red cells: 85 per cent O, Jk(a—b+) and 15 per cent B, Jk(a+b+). All the other genetical blood characters wereExpand
The role of non-disjunction in aneuploidy in man. An overview.
The data on the association between an increase in paternal age and Down's syndrome are conflicting although some data suggest that the risk may be high for fathers above 55 years of age, and the incidence of primary trisomies for chromosome 21 shows a strong correlation with increasing maternal age. Expand
Blood Group Chimerism as a Clue to Generalized Tissue Mosaicism
The family studies showed that the propositus had received a 2 allele contribution from each parent and was therefore the result of double fertilization of a double egg nucleus presumably an ovum and a polar body. Expand
Technique for Identifying Y Chromosomes in Human Interphase Nuclei
This work investigated the possibility of positively identifying male nuclei in interphase by virtue of this staining property of the Y chromosome using quinacrine dihydro-chloride. Expand