Symptoms & Signs
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)
Diagnosis & 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:
- Endoscopy of the abdomen
- Hormone levels, especially testosterone and cortisol
- Ultrasound or MRI
- Urine and serum electrolytes
Review Date : 11/1/2009
Reviewed By : 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.
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