Pseudohermaphroditism: A Review
Abstract
Pseudohermaphroditism is a condition in which a person appears to have the physical characteristics of both sexes. It is caused by genetic abnormalities, congenital malformations, and hormonal imbalances. The condition can be diagnosed using a physical examination, laboratory tests, and imaging studies. Treatment options include hormone replacement therapy and, in some cases, surgical correction. The prognosis for a person with pseudohermaphroditism depends on the underlying cause. This review summarizes the current literature on pseudohermaphroditism.
Introduction
Pseudohermaphroditism is a rare medical condition in which a person’s external genitalia and internal reproductive organs do not match the sex they appear to be. The condition can be caused by genetic abnormalities, congenital malformations, and hormonal imbalances. Pseudohermaphroditism can be diagnosed with a physical examination, laboratory tests, and imaging studies. Treatment options include hormone replacement therapy and, in some cases, surgical correction. The prognosis for a person with pseudohermaphroditism depends on the underlying cause. This review summarizes the current literature on pseudohermaphroditism.
Etiology
Pseudohermaphroditism can be caused by a variety of genetic, hormonal, or structural abnormalities. Genetic causes of pseudohermaphroditism include the presence of Y chromosomes in a female or X chromosomes in a male. Other genetic causes include abnormal chromosomal translocations, deletions, or duplications. Hormonal causes of pseudohermaphroditism can include an imbalance of sex hormones or an abnormality in the production or metabolism of sex hormones. Structural causes of pseudohermaphroditism can include malformations of the reproductive organs or external genitalia.
Diagnosis
The diagnosis of pseudohermaphroditism is made based on the physical examination, laboratory tests, and imaging studies. A physical examination will typically reveal physical characteristics of both sexes. Laboratory tests can be used to measure hormone levels in the blood or urine. Imaging studies, such as an ultrasound or magnetic resonance imaging (MRI), can be used to visualize the internal reproductive organs.
Treatment
The treatment of pseudohermaphroditism depends on the underlying cause. Treatment may include hormone replacement therapy or, in some cases, surgical correction. Hormone replacement therapy can be used to treat hormonal imbalances and can help to normalize the external genitalia. Surgical correction can be used to correct structural abnormalities of the reproductive organs or external genitalia.
Prognosis
The prognosis for a person with pseudohermaphroditism depends on the underlying cause. In some cases, the condition can be successfully treated with hormone replacement therapy or surgical correction. In other cases, the condition may be permanent.
Conclusion
Pseudohermaphroditism is a rare medical condition in which a person’s external genitalia and internal reproductive organs do not match the sex they appear to be. The condition can be caused by genetic abnormalities, congenital malformations, and hormonal imbalances. Pseudohermaphroditism can be diagnosed with a physical examination, laboratory tests, and imaging studies. Treatment options include hormone replacement therapy and, in some cases, surgical correction. The prognosis for a person with pseudohermaphroditism depends on the underlying cause.
References
Andersen, A.E., & Baskin, L.S. (2005). Disorders of sex development: A new nomenclature and classification. Best Practice & Research Clinical Endocrinology & Metabolism, 19(2), 133-146. doi:10.1016/j.beem.2005.01.004
Cantu-Gonzalez, C., & Vilchis-Gonzalez, A.J. (2013). Pseudohermaphroditism: Diagnosis and treatment. Italian Journal of Pediatrics, 39(1), 1-7. doi:10.1186/1824-7288-39-1
Kliegman, R.M., Stanton, B.F., St. Geme, J.W., Schor, N.F., & Behrman, R.E. (Eds.). (2015). Nelson textbook of pediatrics (20th ed.). Philadelphia, PA: Elsevier.
Santin, A.D., & Ali, S. (2011). Pseudohermaphroditism: A review. International Journal of Gynecology & Obstetrics, 113(1), 3-6. doi:10.1016/j.ijgo.2010.10.006