Intersex Variations
These fact sheets have been developed to empower people with innate variations of sex characteristics and their families, to make informed decisions and care for their health. They recognise that everyone, including adults and children, has a right to autonomy and self-determination over their own body
Historically, treatment recommendations for some innate variations have been informed by narrow ideas about sex and gender, and about how bodies should look and function. These resources present relevant diagnostic, medical and health information about specific variations without resorting to these assumptions, helping you take a strengths-based approach to your IVSC.
People with all kinds of bodies, capabilities and identities can grow up to be happy and fulfilled when empowered to make their own informed choices about their bodies.
Intersex Variations
47,XXY, KS
Diagnostic terms change over time, and this trait is also known as: Klinefelter Syndrome, 47, XXY, or XXY. Some people may abbreviate Klinefelter syndrome as KS or Klinefelters
Ovotesticular VSC
Diagnostic terms change over time, and this trait is also known as: Ovotestis, Ovotesticular Disorder of Sex Development, True Gonadal Intersex, True Hermaphroditism, an Intersex Variation
5αRD2 and 17β-HSD3
5-alpha reductase deficiency is also known as 5αRD and 5αR2D. 17-beta hydroxysteroid dehydrogenase 3 deficiency is also known as 17β-HSD3.
MRKH+
Diagnostic terms change over time, and this trait is also known as: Mayer Rokitansky Küster Hauser Syndrome, Vaginal agenesis, Uterine agenesis or Mullerian agenesis
Androgen Insensitivity
Diagnostic terms change over time, and this trait is also known as: Androgen insensitivity syndrome (AIS), Complete Androgen Insensitivity syndrome (CAIS), Partial Androgen Insensitivity syndrome (PAIS), Mild Androgen Insensitivity syndrome (MAIS), Androgen receptor deficiency, Androgen resistance syndrome, Dihydrotestosterone receptor (DHTR) Deficiency, and less commonly as Morris syndrome, Reifenstein syndrome Gilbert-Dreyfus syndrome, Lubs syndrome or Testicular feminisation.
Gonadal Dysgenesis
Diagnostic terms change over time, and this trait is also known as: Streak gonads, XX gonadal dysgenesis, Swyer syndrome, Mixed gonadal dysgenesis. Note that gonadal dysgenesis can also occur in other types of intersex variation including genetic mosaicism, and 45,X0 (Turner syndrome.
Congenital Adrenal Hyperplasia
Diagnostic terms change over time, and this trait is also known as Adrenogenital Syndrome.
Mosaicisim
Diagnostic terms change over time, and this trait is also known as: Genetic Chimerism, Genetic Mosaicism, Anaphase Lag, Nondisjunction, Endoreduplication. Note that this genetic variation can occur along other kinds of genetic variation.
Hypospadias and Epispadias
Hypospadias and epispadias are variations that occur when a person’s body is being developed, due to a range of genetic and hormonal factors.
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