Medicines for Androgen insensitivity syndrome

What it is

Androgen insensitivity syndrome (AIS) is a genetic condition, present from birth, in which the body does not respond normally to androgens (male sex hormones, such as testosterone). It is one of the specific conditions that comes under the umbrella of differences in sex development. Androgens play an important role in the development of male sex characteristics; in AIS, although the body produces androgens, the body’s cells are partly or completely unable to respond to them (because of a genetic change affecting the receptor for these hormones), so male sex development is affected to varying degrees. The genetic pattern involves the X chromosome. There is a spectrum, depending on how much the body can respond to androgens: in complete androgen insensitivity syndrome (CAIS), the body cannot respond to androgens at all, and a person who is genetically male (with XY chromosomes and internal testes) develops physically along female lines and has female external genitals and appearance, and is usually raised as, and identifies as, female — the condition is often identified later (for example around puberty, when periods do not start, or when investigating other things), rather than at birth; in partial androgen insensitivity syndrome (PAIS), the body responds partially, and sex development and characteristics can vary more widely, sometimes with genitals that appear atypical at birth. AIS has various implications that are managed as part of care — for example, relating to the presence of internal testes (which do not descend and which have some health considerations), hormones, fertility, and other aspects, which vary with the type. Because AIS affects sex development, and because of its implications, care is provided by specialist, multidisciplinary teams, and is highly individual. Very importantly, as with other differences in sex development, care emphasises understanding the condition, addressing health needs, providing strong psychological and emotional support, involving the person in decisions where possible, respecting their identity and wishes, and providing information and support for the person and family. The specific medical aspects (such as decisions about the internal testes, hormone treatment, and other matters) are managed individually with specialist input and the person’s involvement. The key messages are that androgen insensitivity syndrome is a genetic condition where the body does not respond fully to male hormones, affecting sex development (a difference in sex development), and that individualised, specialist, and compassionate care and support are key.

How it is treated

Androgen insensitivity syndrome is managed by specialist, multidisciplinary teams with a person-centred, compassionate approach — understanding the condition, addressing health needs, providing strong psychological and emotional support, and involving the person in decisions and respecting their wishes; care is highly individual and depends on the type. Diagnosis is confirmed through assessment and tests (such as hormone tests, chromosome/genetic testing, scans, and examination), which may be prompted by atypical genitals at birth (in some cases of the partial form), or later (for example when periods do not start around puberty in complete AIS, or when investigating other matters); understanding the specific type and situation guides care. Care is provided by specialist multidisciplinary teams (which may include endocrinologists, gynaecologists, specialist nurses, psychologists, surgeons, and others), with expertise in AIS and differences in sex development. Key aspects of care include: addressing the health implications of AIS, which are managed as part of care and depend on the type — for example, considerations relating to the internal testes (which are present in AIS and have specific health considerations, such as monitoring or, in some situations and after discussion, removal, decided individually with the person’s involvement), hormone treatment where appropriate (for example to support bone health or other needs, particularly relevant depending on the situation and after any decisions about the testes), and other aspects such as fertility (AIS usually affects fertility, and this is discussed sensitively); and psychological and emotional support, which is a central and very important part of care — supporting the person’s wellbeing, understanding, and, where relevant, identity, and supporting the family, particularly as a diagnosis of AIS can be significant and personal. As with other differences in sex development, modern care emphasises a careful, individualised, person-centred approach — involving the person in decisions about their own body and care where possible (particularly as they grow older), avoiding unnecessary or irreversible interventions that are not medically necessary until the person can be involved, and respecting the person’s identity, wishes, and rights. Information, support, and connecting with support organisations and peer support (including for AIS specifically) are valuable. Ongoing specialist care and support are provided over time, tailored to the person’s needs and stage of life. The reassuring and respectful messages are that androgen insensitivity syndrome is a natural variation in sex development, that care is highly individual, specialist, and compassionate — addressing the health implications, providing strong psychological and emotional support, and involving the person in decisions with respect for their identity and wishes — and that support is available; so specialist, person-centred, and compassionate care and support are the keys to managing AIS.