Which of the following is the least common cause of ambiguous genitalia in a female child
Correct Answer: Fetal placental steroid sulfatase deficiency
Description: Ambiguous genitalia is a rare condition in which an infant&;s external genitals don&;t appear to be clearly either male or female. In a baby with ambiguous genitalia, the genitals may be incompletely developed or the baby may have characteristics of both sexes. The external sex organs may not match the internal sex organs or genetic sex. How ambiguous genitalia occurs A disruption of the steps that determine sex can result in a mismatch between the appearance of the external genitals and the internal sex organs or the genetic sex (XX or XY). A lack or deficiency of male hormones in a genetic male fetus can cause ambiguous genitalia, while exposure to male hormones during development results in ambiguous genitalia in a genetic female. Mutations in ceain genes can influence fetal sex development and cause ambiguous genitalia. Chromosomal abnormalities, such as a missing sex chromosome or an extra one, also can cause ambiguous genitalia. In some cases, the cause of ambiguous genitalia may not be determined. Possible causes in genetic females Causes of ambiguous genitalia in a genetic female may include: Congenital adrenal hyperplasia. Ceain forms of this genetic condition cause the adrenal glands to make excess male hormones (androgens). Prenatal exposure to male hormones.Ceain drugs that contain male hormones or that stimulate production of male hormones in a pregnant woman can cause developing female genitals to become more masculine. A developing baby also may be exposed to excess male hormones if the mother has a disease or condition that causes hormone imbalance. Tumors. Rarely, a tumor in the mother can produce male hormones. Possible causes in genetic males Causes of ambiguous genitalia in a genetic male may include: Impaired testicle development. This may be due to genetic abnormalities or unknown causes. Androgen insensitivity syndrome. In this condition, developing genital tissues don&;t respond normally to male hormones made by the testes. Abnormalities with testes or testosterone. Various abnormalities can interfere with the testes&; activity. This may include structural problems with the testes, problems with production of the male hormone testosterone or problems with cellular receptors that respond to testosterone. 5a-reductase deficiency. This enzyme defect impairs normal male hormone production. Reference: GHAI Essential pediatrics, 8th edition
Category:
Pediatrics
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