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Androgen Insensitivity in Children

  • Androgen insensitivity is a rare genetic condition that blocks the body from using male hormones (androgens) during fetal growth and after birth. Because the fetal tissue is insensitive to male hormones, the masculinizing that should occur in a genetic male cannot happen. These children develop as normal females, but are missing internal female reproductive organs.

    • Androgen insensitivity is a genetic mutation that can be inherited from the mother or can happen as a spontaneous genetic mutation at conception.
    • An estimated 1 in 65,000 female infants (with the male karyotype XY) are born with androgen insensitivity.
    • There is another form of the condition called partial androgen sensitivity, in which a child will have ambiguous genitalia.

    The gene for androgen sensitivity is on the X chromosome, so genetic females carrying the gene won't appear affected because they have another normal X chromosome. Girls who are carriers may have thinner pubic hair and less normal teenage acne. They also have a 50 percent chance of passing the mutated gene on in each pregnancy.

    How Boston Children's Hospital approaches androgen insensitivity

    At the Center for Congenital Anomalies of the Reproductive Tract, we understand the needs of a girl with androgen insensitivity. The Center offers many forms of support to you, from immediate testing to expert, long-term medical care. We will work with your daughter to decide on the best time-line for her treatment.

    Children's is also home to the Gender Management Service (GeMS) Clinic, which treats the medical and psychosocial issues of infants, children, adolescents and young adults with disorders of sexual differentiation.

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