Intersex Conditions
Differences in sex anatomy, chromosomes, or hormones
Quick Facts
- Also called: Differences of sex development (DSD)
- Involves: Anatomy, chromosomes, or hormones
- Diversity: Many different conditions
- Care: Individualized, multidisciplinary
Overview
Intersex conditions, also called differences of sex development (DSD), are a diverse group of conditions in which a person is born with reproductive anatomy, chromosomes, or hormone patterns that do not fit typical definitions of male or female. Sex development is a complex process involving genes, chromosomes, and hormones, and variations can occur at any stage.
These conditions are natural variations of human biology rather than something "wrong," and they vary enormously. Some are noticed at birth because of differences in the genitals, some become apparent at puberty, and some are only discovered in adulthood, sometimes during fertility investigations. Care has moved toward an individualized, supportive approach involving specialists, the person, and their family, with an emphasis on health, informed choice, and wellbeing. Related conditions include Klinefelter syndrome and Turner syndrome.
Signs and Features
Because intersex conditions are so varied, their features differ widely and may appear at different ages. Possible signs include:
- Genitals that are not clearly typical at birth
- Internal reproductive organs that differ from outward appearance
- Undescended testes or other differences in the reproductive structures
- Differences emerging at puberty, such as unexpected or absent development
- Absent or irregular periods
- Differences in body shape, hair pattern, or breast development
- Fertility differences, sometimes the first sign in adulthood
Many people with an intersex condition are otherwise healthy, and some have no outward features at all.
Causes
Intersex conditions arise from variations in the genetic and hormonal processes that guide sex development before and during puberty. Broad categories include:
- Chromosomal differences: variations in the number or arrangement of the sex chromosomes.
- Hormonal differences: in the production or response to hormones such as androgens, which shape sexual development.
- Enzyme differences: affecting how hormones are made, as in some inherited conditions affecting the adrenal glands.
- Differences in how tissues respond to hormones: such as reduced response to androgens.
Many intersex conditions are present from birth and are not caused by anything the parents did.
Associated Factors
Intersex conditions are natural variations rather than diseases caused by lifestyle, and there is usually nothing a person or family could have done to change them. Relevant points include:
- Some conditions are inherited and may run in families
- A family history of similar conditions or related genetic disorders may be relevant
- Many arise from spontaneous genetic or hormonal variations with no family history
Genetic counseling can help families understand the specific condition and any pattern of inheritance.
Diagnosis
Diagnosis aims to understand the specific condition so that appropriate health care and support can be offered. It usually involves a team of specialists.
- Physical examination: assessing the reproductive anatomy.
- Chromosome (karyotype) and genetic testing: to identify the underlying difference.
- Hormone tests: to assess levels and how the body produces and responds to hormones.
- Imaging: ultrasound or MRI to view internal reproductive structures.
- Specialist assessment: by endocrinologists, urologists, gynecologists, geneticists, and psychologists working together.
Management
Care is highly individualized and focuses on health, wellbeing, and informed choice. The right approach depends on the specific condition, the person's age, and their wishes.
- Medical care: for any associated health needs, such as hormone treatment where it supports health or puberty, or treatment of related conditions affecting the adrenal glands.
- Psychological and social support: for the person and family, which is a central part of care.
- Fertility counseling: where relevant.
- Careful, shared decisions about surgery: the modern approach generally favors avoiding non-urgent, irreversible surgery in early childhood, supporting the individual's involvement in decisions where possible.
- Long-term follow-up: with a specialist team to monitor health over time.
Support and Wellbeing
Intersex conditions are natural variations and are not something to be prevented. The emphasis is on good care and support:
- Access to experienced, multidisciplinary specialist teams
- Clear, age-appropriate information for the person and family
- Psychological support and connection with peer support organizations
- Involving the individual in decisions about their own body and care
- Genetic counseling for families who want it
When to See a Doctor
Seek medical advice if a newborn has genitals that are not clearly typical, or if a child or teenager shows unexpected or absent development at puberty, absent periods, or other signs that may point to a difference of sex development. Adults may seek advice during fertility investigations or for related health concerns. While most intersex conditions are not emergencies, some associated conditions, such as certain adrenal gland disorders in newborns, can cause serious illness and need urgent care, so any unwell newborn should be assessed promptly.
Frequently Asked Questions
What does intersex mean?
Intersex describes being born with sex characteristics, such as anatomy, chromosomes, or hormones, that do not fit typical definitions of male or female. The term covers many different conditions, also called differences of sex development. They are natural variations of human biology.
When are intersex conditions usually noticed?
It varies. Some are noticed at birth because of differences in the genitals, some become apparent at puberty when development is unexpected or absent, and some are only found in adulthood, sometimes during fertility investigations. Some people have no outward features at all.
What causes intersex conditions?
They arise from variations in the genetic and hormonal processes that guide sex development. Causes include differences in sex chromosomes, in hormone production or response, and in enzymes that make hormones. Many are present from birth and are not caused by anything the parents did.
Is surgery always needed for intersex conditions?
No. The modern approach generally favors avoiding non-urgent, irreversible surgery in early childhood and supporting the individual's involvement in decisions about their own body where possible. Care is individualized and decisions are shared between the person, family, and specialist team.
Where can families find support?
Care is best provided by experienced multidisciplinary teams that include endocrinologists, geneticists, surgeons, and psychologists. Psychological support and peer support organizations can be very helpful, and genetic counseling provides information about the specific condition and any inheritance pattern.
References
- Office on Women's Health, U.S. Department of Health and Human Services.
- National Institute of Child Health and Human Development (NICHD).
- MedlinePlus, U.S. National Library of Medicine. Intersex.
- Genetic and Rare Diseases Information Center (GARD).