46,XX testicular disorder of sex development

46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.

Ambiguous genitalia

A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4.


Total: 5

                       


(per page)
PMID (PMCID)
19205451
 MALE Adult
Infertility in a new 46, XX male with positive SRY confirmed by fluorescence in situ hybridization: a case report.
Pepene CE, Coman I, Mihu D, Militaru M, Duncea I.
Clin Exp Obstet Gynecol. 2008;35(4):299-300.
The 46, XX male syndrome (de la Chapelle syndrome or 46, XX testicular disorder of sex development) is a rare form of sex reversal with complex mechanisms leading to a large spectrum of clinical manifestations ranging from ambiguous genitalia in the newborn to normal male phenotype.
19205451
 MALE Adult
Infertility in a new 46, XX male with positive SRY confirmed by fluorescence in situ hybridization: a case report.
Pepene CE, Coman I, Mihu D, Militaru M, Duncea I.
Clin Exp Obstet Gynecol. 2008;35(4):299-300.
The 46, XX male syndrome (de la Chapelle syndrome or 46, XX testicular disorder of sex development) is a rare form of sex reversal with complex mechanisms leading to a large spectrum of clinical manifestations ranging from ambiguous genitalia in the newborn to normal male phenotype.
19205451
 MALE Adult
Infertility in a new 46, XX male with positive SRY confirmed by fluorescence in situ hybridization: a case report.
Pepene CE, Coman I, Mihu D, Militaru M, Duncea I.
Clin Exp Obstet Gynecol. 2008;35(4):299-300.
The 46, XX male syndrome (de la Chapelle syndrome or 46, XX testicular disorder of sex development) is a rare form of sex reversal with complex mechanisms leading to a large spectrum of clinical manifestations ranging from ambiguous genitalia in the newborn to normal male phenotype.
6892104
 MIXED_SAMPLE Infant
Two XX male infants with ambiguous genitalia.
Isaac GS, Reddy YR, Reddi OS.
Acta Anthropogenet. 1982;6(3):163-6.
Two infants with ambiguous genitalia were recognised to have XX male syndrome.
876735
 MIXED_SAMPLE Infant, Newborn
Ambiguous genitalia in XX male children: report of two infants.
Roe TF, Alfi OS.
Pediatrics. 1977;60(1):55-9.
Two infants with ambiguous genitalia were recognized to have the XX male syndrome.