Treatment options in androgen insensitivity syndromes

Treatment of patients with an intersex disorder must be directed both towards medical and psychological aspects. Psychological expertise is necessary when gender identity is uncertain, especially in the individual with genital ambiguity. However, questions regarding social and cultural coping with intersexuality should also be asked and answered with a view towards enhancement of the quality of life of this patient.

At present medical treatment is based on the assessment of the individual phe-notype in correlation with our knowledge of the underlying AR pathophysiology (Hines et al. 2003). The decision of sex of rearing must be made in a thorough discussion between medical specialists of both endocrinology and surgery as well as with specialized psychologists together with the parents (Hiort et al. 2003).

In individuals with AIS raised as females, the gonads may be removed at various ages. In patients with complete AIS, gonads should not be removed before puberty, leading to "testicular feminization" with an isosexual pubertal development. The risk of a malignancy of the gonads should not be underestimated; however, to date there is no report of a prepubertal or pubertal AIS-patient with a gonadal malignancy. In female patients with partial AIS caused by a mosaic mutation of the AR gene or decreased, albeit distinct, receptor activity due to a point mutation of the AR gene, the gonads should be removed before the beginning of puberty (Holterhus etal. 2002). Hormone replacement therapy in female patients with AIS will always include estrogens. However, when and if gestagens should be replaced and a cyclic replacement be given is debatable in these patients without Mullerian structures.

In male patients with partial or minimal AIS, only little is known about high-dose androgen therapy for further masculinization. In published cases, additional therapy with 250 mg testosterone enanthate every week led to a marked increase in virilization (Foresta etal. 2002; Hiort etal. 1993; Radmayr etal. 1998; Weidemann etal. 1998). Moreover, anabolic effects were also seen, such as increase in bone mineral density. Apparently the site of mutation within the AR does not allow prediction of therapeutic response, as both mutations within the DNA and the hormone binding region are susceptible to high-dose androgen treatment.

Hormonal treatment in AIS is still based on individual case observations and the development and evaluation of guide lines is necessary for the future.

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