Ambiguous Genitalia: Causes, Diagnosis, and Treatment
Abstract
Ambiguous genitalia is a rare condition that occurs when a newborn’s external genitals do not appear to be clearly male or female. Although the exact cause is often unknown, it can be due to certain genetic, hormonal, or environmental factors. Diagnosis usually involves a physical exam, genetic testing, and imaging studies. Treatment requires a multidisciplinary approach, typically involving surgery and hormone therapy. This article reviews the causes, diagnosis, and treatment of ambiguous genitalia.
Introduction
Ambiguous genitalia is a rare condition that occurs when a newborn’s external genitals do not appear to be clearly male or female. It affects about one in every 4,500 newborns (Hines & Ahmed, 2018). The condition can cause psychological distress and other complications, so it is important to diagnose and treat the condition as soon as possible.
Causes
The exact cause of ambiguous genitalia is often unknown. In some cases, the condition is caused by a genetic disorder, such as androgen insensitivity syndrome (AIS) or congenital adrenal hyperplasia (CAH) (Hines & Ahmed, 2018). In other cases, the cause is due to abnormal hormone production or exposure to certain environmental toxins.
Diagnosis
Diagnosis of ambiguous genitalia typically involves a physical exam, genetic testing, and imaging studies. During the physical exam, the doctor will look for signs of male or female genitalia. The doctor may also take a sample of cells from the genital area for genetic testing. Imaging studies, such as an ultrasound or MRI, may be used to look for any structural abnormalities (Hines & Ahmed, 2018).
Treatment
Treatment of ambiguous genitalia typically requires a multidisciplinary approach. Surgery may be used to correct any structural abnormalities and to assign a gender to the infant. Hormone therapy may also be used to help the body develop more gender-specific characteristics (Hines & Ahmed, 2018). In some cases, gender-affirming treatments, such as gender-affirming clothing or names, may also be recommended.
Conclusion
Ambiguous genitalia is a rare condition that occurs when a newborn’s external genitals do not appear to be clearly male or female. The exact cause is often unknown, but it can be due to certain genetic, hormonal, or environmental factors. Diagnosis usually involves a physical exam, genetic testing, and imaging studies. Treatment requires a multidisciplinary approach, typically involving surgery and hormone therapy.
References
Hines, S., & Ahmed, S. F. (2018). Ambiguous genitalia. In StatPearls. Retrieved from http://www.ncbi.nlm.nih.gov/books/NBK539248/