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ambiguous genitalia

Saturday 21 January 2006

Disorders of sex development (DSDs) are congenital conditions in which the development of chromosomal, gonadal, or anatomic sex is atypical.

DSDs with ambiguous genitalia are typically diagnosed at clinical examination in infancy, whereas those associated with male and female phenotypes may be diagnosed much later.

DSDs can be classified broadly into four categories on the basis of gonadal histologic features:
- female pseudohermaphroditism (46,XX with two ovaries);
- male pseudohermaphroditism (46,XY with two testes);
- true hermaphroditism (ovotesticular DSD) (both ovarian and testicular tissues);
- gonadal dysgenesis, either mixed (a testis and a streak gonad) or pure (bilateral streak gonads)

Imaging plays an important role in demonstrating the anatomy and associated anomalies. Ultrasonography is the primary modality for demonstrating internal organs; genitography is used to assess the urethra, vagina, and any fistulas or complex tracts; and magnetic resonance imaging is used as an adjunct modality to assess for internal gonads and genitalia.

Early and appropriate gender assignment is necessary for healthy physical and psychologic development of children with ambiguous genitalia. Gender assignment can be facilitated with a team approach that involves a pediatric endocrinologist, geneticist, urologist, psychiatrist, social worker, neonatologist, nurse, and radiologist, allowing timely diagnosis and proper management.


Clinical findings that suggest DSD and serve as indications for further investigation include:
- (a) overt genital ambiguity
- (b) an apparent male with bilateral nonpalpable testes (full-term infant), micropenis, hypospadias associated with separation of the scrotal sac, or an undescended testis with mild hypospadias;
- (c) an apparent female with clitoral hypertrophy of any degree, a foreshortened vulva with a single opening, or an inguinal-labial hernia containing a gonad;
- (d) a family history of DSD (eg, complete androgen insensitivity syndrome or CAI syndrome or Morris syndrome);
- (e) a discordance between genital appearance and a prenatal karyotype.

A phenotypic boy with an inguinal hernia on one side (containing a uterus and fallopian tubes) and an impalpable gonad on the other exemplifies one manifestation of male pseudohermaphroditism with MIS deficiency.

Patients with PGD usually have a female phenotype at birth. They present at puberty with failure of menarche and a normal female phenotype.

Phenotypic females with male pseudohermaphroditism (46,XY DSD) and CAI syndrome usually present at puberty for evaluation of primary amenorrhea.

Imaging plays an important role in depicting the internal organs and urogenital anatomy in children with ambiguous genitalia. US is the primary modality for evaluation of the internal reproductive organs, whereas genitography and voiding cystourethrography are used for evaluation of urethral and vaginal tracts and fistulas. MR imaging may serve as a problem-solving modality for clarifying the internal anatomy and searching for internal gonads.

Ultrasonography is the primary modality for establishing the presence or absence of gonads and müllerian derivatives. It can be performed quickly and does not involve radiation or sedation. A US examination should include the inguinal, perineal, renal, and adrenal regions.

The uterus and ovaries are relatively easy to find at US performed in the neonatal period, since these structures are prominent under the influence of maternal hormones. At US, identification of only one ovary has been seen in 40% of typical patients and of neither ovary in 16%

See also

- malformative syndromes with ambiguous genitalia