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Symptoms vary according to the specific problem. They may include:
The doctor may notice signs of a developmental disorder right away. Such signs may include:
Karyotyping (genetic testing) may be done if the person has ambiguous genitalia. If there is swollen abdomen or a lump in the groin or abdomen, the doctor will order tests to determine the cause.
Tests may include:
Diamond DA. Abnormal sexual differentiation. Evaluation and management of the newborn with ambiguous genitalia. In: Wein AJ, ed. Campbell-Walsh Urology. 9th ed. Philadelphia, PA: Saunders Elsevier; 2007:chap 128.
Emans SJ, Laufer MR, Goldstein DP. Pediatric and Adolescent Gynecology. 5th ed. Philadelphia, Pa: Lippincott Williams & Wilkins;2005.
Katz VL, Lentz GM. Congenital abnormalities of the female reproductive tract. In: Gabbe SG, Niebyl JR, Simpson JL, eds. Comprehensive Gynecology. 5th ed. Philadelphia, PA: Mosby Elsevier; 2007:chap 12.
Katz VL. Spontaneous and recurrent abortion: etiology, diagnosis, treatment. In: Gabbe SG, Niebyl JR, Simpson JL, eds. Comprehensive Gynecology. 5th ed. Philadelphia, PA: Mosby Elsevier; 2007:chap 16.
Niebyl JR, Simpson JL. Drugs and environmental agents in pregnancy and lactation: embryology, teratology, epidemiology. In: Gabbe SG, Niebyl JR, Simpson JL, eds. Comprehensive Gynecology. 5th ed. Philadelphia, PA: Mosby Elsevier; 2007:chap 8.
Park JM. Normal development of the urogenital system. In: Wein AJ, ed. Campbell-Walsh Urology. 9th ed. Philadelphia, PA: Saunders Elsevier; 2007:chap 106.
Sanfilippo JS. Vulvovaginal and müllerian anomalies. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 554.
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