True hermaphroditism and normal male external genitalia: a rare presentation

M, Montero García; Méndez, Romero; Valverde, Diana Brenes; Fernández, J Soler; Gómez, M.T. Bordel; Ruiz, Carlos Alberto Perea

doi:10.1111/j.1651-2227.1999.tb00069.x

Cited by 16 publications

(12 citation statements)

References 13 publications

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“…True hermaphroditism diagnosis is made based on the histological presence of both testicular and ovarian tissue in the same individual. Almost 90% of subjects will present at birth with ambiguous genitalia like microphallus, hypospadias, urogenital sinus, a fusion of penoscrotal labia, or cryptorchidism [ 3 ]. Ovotesticular disorder of sex development is the rarest form of DSD accounting for about 5%.…”

Section: Discussionmentioning

confidence: 99%

“…As the malignancy rate is very low, so prophylactic removal of gonads is not indicated. Germ cell tumours are most common with dysgerminoma being the most common histological variant [ 3 ]. Seminoma in patients of Ovotesticular disorders is extremely rare.…”

Section: Discussionmentioning

confidence: 99%

“…About 60% of the patients have 46XX karyotype, 33% have 46XX/46XY sex chromosome mosaicism, while 7% have 46 XY karyotype [ 2 ]. Ovotesticular disorder represents 5% of disorders of sex development (DSD) [ 3 ]. The risk of acquiring adverse gonadal and genitourinary pathologies increases in patients with ovotestis.…”

Section: Introductionmentioning

confidence: 99%

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Ovotesticular Disorder With Seminoma

Samantray

Mohapatra

2020

Cureus

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Ovotesticular Disorder With Seminoma

Samantray

Mohapatra

2020

Cureus

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“…In two-thirds of 46,XX males, the etiology of sex reversal is related to the translocation of Y chromosomal sequences, including SRY, from the paternal Y chromosome to the paternal X chromosome 7 . Most of the cases in the literature were reported in adulthood 9 . Most affected individuals have a phenotype similar to that in Klinefelter syndrome 8 .…”

Section: Discussionmentioning

confidence: 99%

6,XX Maleness and 46,XX 21-Hydroxylase Deficiency in Dizygotic Twins: Association or Coincidence?

Atabek

Acar²,

Cora³

et al. 2007

Journal of Pediatric Endocrinology and Metabolism

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46,XX maleness is a rare abnormality of gonadal differentiation. We present dizygotic twins, one having ambiguous genitalia due to 21hydroxylase deficiency, and the other having normal male genitalia with 46,XX maleness. One of the twins was referred to the endocrinology unit at 2 days old because of ambiguous genitalia. The other twin with bilateral undescended testes located in the inguinal canal was diagnosed with 46,XX maleness. The karyotype was 46,XX. Molecular analysis revealed the presence of SRY in the latter twin without Miillerian structures. Association of congenital adrenal hyperplasia (46,XX 21-hydroxylase deficiency) and 46,XX maleness in twins has not been previously reported. KEY WORDSXX maleness, 21-hydroxylase deficiency, twins

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“…The phenotype of these patients is related to the presence of the SRY gene and varies from female to normal male ( Fig. 7.1), but those with male phenotype do not exceed 10% [27,28]. In XX patients the phenotype depends on two features, the length of translocated Y material and whether the SRY gene is translocated to the active X chromosome.…”

Section: Phenotypementioning

confidence: 99%