Disease relevance of Hermaphroditism, True

• Investigation of the ZFY gene in XX true hermaphroditism and Swyer syndrome [1].
• Retrospective review of pathologic materials and clinical data on all patients diagnosed with mixed gonadal dysgenesis, pure gonadal dysgenesis, androgen insensitivity, and true hermaphroditism between 1982 and 1990 [2].
• Differential diagnosis included true hermaphroditism; adrenal hyperplasia; clitoral, ovarian, and adrenal neoplasms; stromal hyperthecosis; polycystic ovarian syndrome; and exogenous androgen exposure [3].
• Sequencing of exons 2-8 of the androgen receptor after study of testosterone precursors following human chorionic gonadotrophin stimulation is recommended when gonadal dysgenesis and true hermaphroditism can be excluded [4].

High impact information on Hermaphroditism, True

• In five patients in whom true hermaphroditism was later histologically demonstrated, E2 rose above 80 pg/mL [5].
• PURPOSE: The pathogenesis of 46 XX true hermaphroditism is uncertain and the role of the SRY gene in ovotestis development has not been thoroughly evaluated [6].
• The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism [7].
• Screening for mutations in the WNT-4 gene in patients with 46,XX true hermaphroditism [8].
• Applicability of the SHBG androgen sensitivity test in the differential diagnosis of 46,XY gonadal dysgenesis, true hermaphroditism, and androgen insensitivity syndrome [9].

Biological context of Hermaphroditism, True

• Our results using PCR and FISH analyses reveal the presence of hidden mosaicism for SRY or other Y sequences in some patients with XX true hermaphroditism and confirms that mosaicism for SRY limited to the gonads is an alternative mechanism for testicular development in 46,XX true hermaphrodites [10].
• Several years ago, we presented a patient with true hermaphroditism and partial duplication of chromosome 22 and no evidence of SRY (Aleck et al. [1999: Am J Med Genet 85:2-4]) [11].
• True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene [12].
• Transfer of Yp sequences, including the testis-determining SRY gene, to the terminal portion of the short arm of the X chromosome is associated with 46,XX maleness and in rare cases 46,XX true hermaphroditism [13].

Anatomical context of Hermaphroditism, True

• OBJECTIVES: Two cases of 46,XX true hermaphroditism were analyzed for two Y-DNA sequences, including the recently cloned gene for male testis determination, the sex-determining region of the Y chromosome (SRY) [14].

Gene context of Hermaphroditism, True

• Findings in Patient 1 suggest that the phenotypic spectrum of the heterozygous DMRT deletion may include true hermaphroditism [15].
• Sexual determinism deficiencies come after: Turner syndrome, XX males, pure gonadal dysgenesis, and true hermaphroditism, mixed gonadal dysgenesis, Drash and Frasier syndrome [16].

References