Androgen Insensitivity Syndrome

"severe forms of partial androgen insensitivity syndrome due to p.l830f novel mutation in androgen receptor gene in a brazilian family.", by Petroli RJ, Maciel-Guerra AT, Soardi FC, de Calais FL, Guerra-Junior G, de Mello MP. F1: Inheritance of androgen insensitivity syndrome in the family. Family pedigree (A). Female genitalia with palpable gonads in the index case III-10 (B) and her niece IV-1 (C)....

Androgen insensitivity syndrome is a problem that influences sexual development prior to birth and during adolescence. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Full androgen insensitivity syndrome happens when the body can not use androgens in any way. People with complete androgen insensitivity syndrome also have sparse or missing hair in the pubic area and under the arms. The mild and partial forms of androgen insensitivity syndrome result when the body's tissues are partially delicate to the results of androgens. People with partial androgen insensitivity can have genitalia that look generally female, genitalia that have both female and male characteristics, or genitalia that look commonly male. People with mild androgen insensitivity are born with male sex characteristics, but they are typically sterile and have a tendency to experience breast augmentation at puberty.

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