Medicines for Differences in sex development

What it is

Differences in sex development (DSD) — also referred to using terms such as variations in sex characteristics, and, by some, the term intersex — is an umbrella term for a group of conditions in which a person’s sex characteristics (such as their chromosomes, hormones, reproductive organs, or genitals) develop or are arranged in a way that differs from typical male or female patterns. There are many different specific conditions under this umbrella, which vary widely, and the ways in which sex development differs can involve different aspects (for example the chromosomes, the way the body responds to or produces certain hormones, or the development of the reproductive or genital anatomy). Some differences are apparent at birth (for example, if a baby’s genitals do not appear clearly typical), some become apparent later (for example around puberty, or when investigating other things such as fertility), and some may cause no outward signs. It is important to approach DSD, and people with these conditions, with respect, sensitivity, and an understanding that these are natural variations in human development; language and terminology are important and personal, and people may prefer different terms. Care for people with a difference in sex development is highly individual, and depends on the specific condition and the person’s needs, and it is provided by specialist, multidisciplinary teams with expertise in these conditions. Care may involve: understanding the specific condition (through assessment and tests); addressing any associated health needs (as some conditions have specific health implications that need monitoring or treatment); psychological and emotional support, and support around identity and wellbeing, which is a very important part of care; support and information for the person and family; and, where relevant and appropriate, discussion of options regarding any medical or surgical management — with a strong emphasis, in modern care, on the person’s own involvement in decisions where possible, avoiding unnecessary interventions, and respecting the person’s rights and wishes. The approach to DSD, particularly regarding decisions about the body, has evolved, with growing emphasis on individualised care, psychological support, involving the person in decisions, and, where possible, avoiding irreversible interventions that are not medically necessary until the person can be involved. The key messages are that differences in sex development are a group of conditions where sex characteristics develop differently (a natural variation), and that individualised, specialist, and compassionate care and support — including psychological support and, where relevant, careful and person-centred decisions about any management — are key.

How it is treated

Differences in sex development are managed by specialist, multidisciplinary teams with a person-centred, compassionate approach, addressing the specific condition and any health needs, providing psychological and emotional support, and involving the person and family in decisions; care is highly individual, and terminology and wishes are respected. Because DSD is an umbrella term covering many different specific conditions, an important part of care is understanding the specific condition through assessment — which may include examination, blood tests (for example of hormones and chromosomes), scans, and other investigations, guided by specialists — so that the specific situation is understood and any implications identified. Care is provided by specialist multidisciplinary teams (which may include specialists such as endocrinologists, urologists/surgeons, gynaecologists, psychologists, specialist nurses, and others, depending on the condition and age), who have expertise in these conditions. Key aspects of care include: addressing any associated health needs — some conditions under the DSD umbrella have specific health implications (for example relating to hormones, or specific health risks) that need monitoring or treatment, so these are managed as part of care; psychological and emotional support, which is a very important and central part of care — supporting the person’s wellbeing, understanding, and, where relevant, their sense of identity, and supporting the family; and providing information and support tailored to the person’s needs and stage of life. Where decisions about medical or surgical management arise, modern care emphasises a careful, individualised, and person-centred approach — involving the person in decisions where possible (which is particularly important as they grow older and can express their own views), avoiding unnecessary or irreversible interventions where they are not medically necessary, and respecting the person’s rights, wishes, and bodily autonomy; the approach in this area has evolved significantly, with growing emphasis on these principles. Some conditions may involve specific medical treatments (for example hormone treatment in some situations, where appropriate), which are discussed and provided with the person’s involvement. Throughout, respect, sensitivity, and attention to the person’s and family’s wishes, terminology, and wellbeing are central. Support organisations and peer support (including for specific conditions, and for people with variations in sex characteristics) can provide valuable information, community, and support. The reassuring and respectful messages are that differences in sex development are natural variations in human development, that care is highly individual, specialist, and compassionate — addressing the specific condition and any health needs, providing important psychological and emotional support, and involving the person and family in decisions with respect for their wishes and rights — and that support is available; so specialist, person-centred, and compassionate care and support are the keys.