Ambiguous genitalia

Ambiguous genitalia is usually not life threatening (see Causes section for exceptions ), but can create social problemsfor the child and the family. For this reason, a team of experienced specialists, including neonatologists, geneticists, endocrinologists, and psychiatrists or social workers will be involved.

• Pseudohermaphroditism. The genitalia are of one sex, but some physical characteristics of the other sex are present.
• True hermaphrodism. A very rare condition in whichboth ovarian and testicular tissue is present. The child may have parts of both male and female genitalia.
• Mixed gonadal dysgenesis (MGD). An intersex condition in which there appears some male structures (gonad, testis), as well as a uterus, vagina, and fallopian tubes.
• Congenital adrenal hyperplasia. This conditionhas several forms, but the most common form causes the genetic female to appear male. Many states test for this potentially life-threateningcondition duringnewborn screening exams.
• Chromosomal abnormalities, includingKlinefelter's syndrome (XXY) andTurner's syndrome (XO).
• Maternal ingestion of certain medications (particularly androgenic steroids) may make a genetic female look more male
• Lack of production of specific hormones can cause the embryo to develop with a female body type regardless of genetic sex
• Lack of testosterone cellular receptors. So even if the body makes the hormones needed to develop into a physical male, the body is unable to respond to those hormones, and therefore, a female body-type is the result even if the genetic sex is male.

Bidarkar SS, Hutson JM. Evaluation and management of the abnormal gonad. Semin Pediatr Surg 2005 May;14(2):118-23.

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