Risk factors Family history may play a role in the development of ambiguous genitalia, because many disorders of sex development result from genetic abnormalities that can be inherited. In a fetus without a Y chromosome — without the effects of male hormones — the genitals develop as female. Unexplained deaths in early infancy Infertility, absent menstrual periods or excess facial hair in females Genital abnormalities Abnormal physical development during puberty Congenital adrenal hyperplasia, a group of inherited genetic disorders that affect the adrenal glands If your family has a history of these risk factors, consider seeking medical advice before trying to conceive. These issues have been addressed by a rapidly increasing number of international institutions including, in , the Council of Europe, the United Nations Office of the United Nations High Commissioner for Human Rights and the World Health Organization. In males, a region on the Y chromosome triggers the development of testicles, which produce male hormones. Currently, hermaphroditism is not to be confused with intersex, as the former refers only to a specific phenotypical presentation of sex organs and the latter to a more complex combination of phenotypical and genotypical presentation.
Print Overview Ambiguous genitalia is a rare condition in which an infant's external genitals don't appear to be clearly either male or female. Chromosomal abnormalities, such as a missing sex chromosome or an extra one, also can cause ambiguous genitalia. Sex chromosome DSD results from the atypical complement of sex chromosomes, and includes syndromes such as Turner syndrome 45,X with one absent sex chromosome and Klinefelter syndrome XXY with one additional X chromosome. The mother's egg contains an X chromosome, and the father's sperm contains either an X or a Y chromosome. DSD are congenital conditions that most commonly present in the newborn period. Others will not become aware that they are intersex unless they receive genetic testing, because it does not manifest in their phenotype. Abnormalities with testes or testosterone. Male and female sex organs develop from the same tissue. Emphasize that all of these conditions are biologically understandable while they are statistically uncommon. Ambiguous genitalia isn't a disease, it's a disorder of sex development. The birth of a child with intersex is a true emergency situation and an immediate transfer to a medical center familiar with the diagnosis and management of intersex conditions should occur. An enlarged clitoris, which may resemble a penis Closed labia, or labia that include folds and resemble a scrotum Lumps that feel like testes in the fused labia Babies who are genetically male with one X and one Y chromosome may have: Possible causes in genetic females Causes of ambiguous genitalia in a genetic female may include: Current data challenge the past practice of sex reassignment. Discrimination against intersex people Inclusion in equal treatment and hate crime law. In some non-European societies, sex or gender systems with more than two categories may have allowed for other forms of inclusion of both intersex and transgender people. International Consensus Conference on Intersex. Medical interventions to modify the sex characteristics of intersex people, without the consent of the intersex person have taken place in all countries where the human rights of intersex people have been studied. Whether this tissue becomes male organs or female organs depends on the chromosomes and the presence or absence of male hormones. In children with palpable gonads the presence of a Y chromosome is almost certain, since ovotestes or ovaries usually do not descend. Possible causes in genetic males Causes of ambiguous genitalia in a genetic male may include: Mothers in east Africa may be accused of witchcraft, and the birth of an intersex child may be described as a curse. Further data are necessary to formulate guidelines and recommendations fitting for the individual situation of each patient. It can be challenging to determine the correct gender at birth and a detailed understanding of the embryology and anatomy is crucial. Using hermaphrodite to refer to intersex individuals is considered to be stigmatizing and misleading. Ambiguous genitalia can also be a feature of certain rare, complex syndromes that affect many organ systems.
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