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Developmental disorders of the female reproductive tract - Symptom

Symptoms:

Symptoms vary according to the specific problem. They may include:

  • Lack of breast development
  • Lump in the stomach area, usually due to blood or mucus that cannot flow out
  • Menstrual flow that occurs despite using a tampon (a sign of a second vagina)
  • Monthly cramping or pain, without menstruation
  • No menstruation (amenorrhea)
  • Repeated miscarriages or preterm births (may be due to an abnormal uterus)

Signs and tests:

The doctor may notice signs of a developmental disorder right away. Such signs may include:

  • Bladder on the outside of the body
  • Genitals that are hard to identify as a girl or boy (ambiguous genitalia)
  • Labia that are connected together
  • No openings in the genital area or a single rectal opening

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:

  • Reviewed last on: 11/1/2009
  • Linda Vorvick, MD, Seattle Site Coordinator, Lecturer, Pathophysiology, MEDEX Northwest Division of Physician Assistant Studies, University of Washington School of Medicine; Susan Storck, MD, FACOG, Clinical Teaching Faculty, Department of Obstetrics and Gynecology, University of Washington School of Medicine, Chief, Eastside Department of Obstetrics and Gynecology, Group Health Cooperative of Puget Sound, Redmond, WA. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

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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