Cloacal exstrophy is a rare anomaly in which there is external exposure of the bladder and the terminal aspect of the gut. Genital anomalies are common in patients with cloacal exstrophy. In male patients, there is separation of the penis into 2 hemiphalluses in conjunction with pubic diastasis. Cryptorchidism is usually present. About two-thirds of females with cloacal exstrophy have fusion anomalies of the Müllerian duct structures (e.g., uterus didelphys) and one-third have vaginal agenesis. There is additional discussion of cloacal exstrophy in Chapter 44.1–6
DISORDERS OF SEX DEVELOPMENT
The features that determine the gender of an individual include the chromosomal complement, the composition of the gonads, the morphology of other internal genital structures, and the external genital anatomy. Intersexuality is defined as a lack of accord among these basic determinants of gender. Classically, 4 major categories of intersexuality are recognized: female pseudohermaphroditism, male pseudohermaphroditism, true hermaphroditism, and disorders of gonadal differentiation (Table 55-1). There is controversy regarding the terminology for these conditions, however. The Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology recommend use of the term disorders of sex development in lieu of intersex and intersexuality. They also recommend usage of terminology that emphasizes the genetic etiology, and avoidance of the terms pseudohermaphrodite and hermaphrodite.7,8
Table 55–1.Disorders of Sex Differentiation |Favorite Table|Download (.pdf) Table 55–1. Disorders of Sex Differentiation
|Disorder ||Gonads ||Genitalia |
|Female pseudohermaphroditism ||Ovaries ||Virilization |
|Male pseudohermaphroditism ||Testes ||Defective virilization; variable feminization |
|True hermaphroditism ||Ovary + testis ||Variable |
|Mixed gonadal dysgenesis ||Testis + streak gonad ||Variable; ambiguous or female |
|Pure gonadal dysgenesis ||Streak gonads ||Female; ±clitoromegaly |
The term ambiguous genitalia refers to incomplete differentiation of the external genitalia. Ambiguous genitalia are present in most intersex states. However, the presence of ambiguous genitalia does not always indicate intersexuality. For instance, hypospadias in a karyotypic male with normal testes represents incomplete masculinization of the external genitalia, but is not a true intersex state. In addition, intersex states are not always accompanied by ambiguous genitalia. Normal-appearing female external genitalia are sometimes present in genetic males (complete testicular feminization). Patients with true hermaphroditism and mixed gonadal dysgenesis sometimes have normal-appearing male or female external genitalia. Other disorders that usually include normal or near-normal external genital development include Turner syndrome, pure gonadal dysgenesis, Klinefelter syndrome, persistent Müllerian duct syndrome, and sex reversal syndrome.
The identification of ambiguous external genitalia in the neonate generally triggers an immediate medical and radiological evaluation to allow appropriate gender assignment, to characterize internal genital anatomy, and to detect associated anomalies. Subtle anomalies of genital differentiation may not be detected until later during childhood or at the time of puberty.
Female Pseudohermaphroditism; 46,XX DSD
Female pseudohermaphrodites have virilized external genitalia, but a normal female karyotype ...