Male Hermaphrodite With 46,xx Chromosome Constitution

Takayasu, Hisao; Kinoshita, Kenji; Isurugi, Koichiro; Matsumoto, Yutaka; Komine, Yukikuni; Tonomura, Akira

doi:10.1530/acta.0.0730396

Cited by 7 publications

(2 citation statements)

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“…On the other hand, XX males with genital abnormalities have been reported mainly in pediatric patients (Roe and Alfi 1977;Takayasu et al 1973;Shah et al 1961;Schweikert et al 1982;Cleveland and Chang 1965), and these cases seem clinically close to true hermaphroditism. Indeed, it has been very difficult to draw a clear line between these two conditions in our patients.…”

Section: Discussionmentioning

confidence: 99%

A possible common origin of ?Y-negative? human XX males and XX true hermaphrodites

Abbas

Toublanc

Boucekkine³

et al. 1990

Hum Genet

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We have studied nine patients aged 1 month to 16 years with 46, XX karyotypes and testicular tissue. Some of these patients were followed through puberty. Phenotypically, two presented normal and seven abnormal external genitalia (AG). Among this latter group, four showed hypospadias and three true hermaphroditism (TH). The endocrine data were similar in all three groups: testosterone levels were within normal limits during puberty, decreasing in adulthood; gonadotrophin levels were above the control values at mid puberty. Histologies of the two sub groups of AG patients were identical up to 5 years of age and presented differences when compared with controls, regardless of the ovarian part of the ovotestis. However, in patients older than 8 years, germ cells disappeared and dysgenesis became obvious. In one patient, the ovarian zone of the gonad was detected only after complete serial sections of the removed gonad were examined. Southern blot analysis with Y-DNA probes displayed Y-specific material for the classic 46 XX males and a lack of such sequences for all patients with AG and TH. Based on these findings, we postulate that 46, XX males with AG and 46, XX TH may represent alternative manifestations of the same genetic defect. These data together with those concerning familial cases of 46, XX males with AG and 46, XX TH suggest an autosomally (or pseudoautosomally) determined mechanism.

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Section: Discussionmentioning

confidence: 99%

A possible common origin of ?Y-negative? human XX males and XX true hermaphrodites

Abbas

Toublanc

Boucekkine³

et al. 1990

Hum Genet

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“…The dermatoglyphic patterns in our patient were compatible with those in Klinefelter's syndrome, in that the total ridge count was much lower than those in normal male and female controls (Nanko 1975). We consider that XX males are etiologically analogous to patients with Klinefelter's syndrome (Takayasu et al 1973).…”

Section: Discussionmentioning

confidence: 99%

Infantile XX male: A case report

1976

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A case of infantile XX male syndrome with bilateral scrota1 testes and penoscrotal hypospadias is presented. No evidence of XX/XY mosaicism or Y chromatin was obtained in preparations from cultures of the peripheral blood, skin fibroblast, or other tissues. Although true hermaphroditism was suspected, exploration of the bilateral gonadal structures failed to detect the presence of ovarian structures, either groxly or microscopically. Furthermore, exploratory Iaparotomy revealed no Mullerian structures. The difficulty of early diagnosis of XX males in infancy is emphasized.

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The etiology of maleness in XX men

Chapelle

1981

Hum Genet

223

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Male Hermaphrodite With 46,xx Chromosome Constitution

Cited by 7 publications

References 0 publications

A possible common origin of ?Y-negative? human XX males and XX true hermaphrodites

A possible common origin of ?Y-negative? human XX males and XX true hermaphrodites

Infantile XX male: A case report

The etiology of maleness in XX men

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