Intersex Variations
There are as many as 40 individual intersex variations. Here we will take a brief look at some of them, including common intersex variations such as CAH and hypospadias.
Babies with CAH, or Congenital Adrenal Hyperplasia, are often born with uterus and ovaries, but their genitalia may appear masculinized with a shallow vagina present. CAH is caused by the adrenal gland failing to make an enzyme needed for regulating androgen, aldosterone, and cortisol. People with CAH may suffer from severe salt-wasting which can be life threatening if not treated.
Hypospadias occurs when the urethral opening is on the underside of the phallus somewhere between the tip and the base of the shaft rather than at the tip. With an epispadias, the urethral opening is on the upper surface of the phallus.
With Androgen Insensitivity Syndrome, or AIS, babies with XY chromosomes are born with bodies that are unable to respond to androgens. Children with CAIS, or Complete Androgen Insensitivity Syndrome, may appear typically female at birth while those with PAIS, or Partial Androgen Insensitivity Syndrome, may appear somewhere on the spectrum between a typical male or female body.
People with Klinefelter syndrome are born with XXY chromosomes, resulting in reduced testosterone levels, lower muscle mass, less facial hair, osteoporosis, and infertility in adulthood. Children with XXY chromosomes can face bullying in childhood due to the development of wider hips and gynecomastia or breast growth. Early detection and treatment can alleviate many of the symptoms such as associated learning difficulties.
With mosiacism, different sets of co-existing chromosomes develop within one body from one zygote. With Mosaic Turner syndrome, some cells would have XX chromosomes and others a solitary X. With Mosaic Klinefelter syndrome only some cells would have XXY chromosomes.
Unlike mosaicism, chimerism occurs when two separate zygotes develop simultaneously within one same body. This could result in one intersex person, for example, with 46,XY/46,XX chromosomes rather than 46,XX or 46, XY.
Due to a hormonal variation, babies with 5 ARD deficiency, or 5 alpha reductase-3 deficiency, are born with XY chromosomes but may appear typically female at birth, developing masculine secondary characteristics at puberty.
People with Swyer syndrome are born with XY chromosomes, however their testes do not develop normally and instead they may be born with female appearing genitalia and a uterus.
Mayer-Rokitansky-Küster-Hauser, or MRKH, results in children having an atypical vagina, uterus, and fallopian tubes, but can also affect bone and heart development.
With ovotestis, people are born with a combination of a testis on one side and an ovary or ovotestis on the other. Ovotestis are gonads that are composed of both ovarian and testicular tissue. Their genitalia may appear typical for male or female babies at birth or fall somewhere between the two.
People with aphallia are born without a phallus, so they have neither a penis nor a clitoris.
People with epispadias have the meatus, or urethral opening, located on the upper side of the phallus rather than the tip.
People with PMDS – Persistent Müllerian Duct Syndrome, have XY chromosomes and develop fallopian tubes and a uterus along with development of the upper part of a vagina.
Micropenis is the term used to describe a penis that is considered to be of an unacceptable and insufficient length by medical professionals. Although there is no correlation between penis sizes in infancy and adulthood, many children with micropenises have been assigned female at birth on the advice of doctors.
With PCOS – Polycystic Ovary Syndrome, the ovaries produce higher than typical amounts of androgens often leading to symptoms such as ovarian cysts, weight gain, infertility, and hirsutism – thick, often dark hair on the face, torso and upper legs.
People with Turner syndrome have one X chromosome rather than XX. Sometimes the second X is present but underdeveloped. People with Turner syndrome can have delayed puberty and may struggle with fertility issues later on. With early detection, many associated symptoms such as reduced stature and delayed puberty.
There are as many as 40 individual intersex variations. Here we will take a brief look at some of them, including common intersex variations such as CAH and hypospadias.
Babies with CAH, or Congenital Adrenal Hyperplasia, are often born with uterus and ovaries, but their genitalia may appear masculinized with a shallow vagina present. CAH is caused by the adrenal gland failing to make an enzyme needed for regulating androgen, aldosterone, and cortisol. People with CAH may suffer from severe salt-wasting which can be life threatening if not treated.
Hypospadias occurs when the urethral opening is on the underside of the phallus somewhere between the tip and the base of the shaft rather than at the tip. With an epispadias, the urethral opening is on the upper surface of the phallus.
With Androgen Insensitivity Syndrome, or AIS, babies with XY chromosomes are born with bodies that are unable to respond to androgens. Children with CAIS, or Complete Androgen Insensitivity Syndrome, may appear typically female at birth while those with PAIS, or Partial Androgen Insensitivity Syndrome, may appear somewhere on the spectrum between a typical male or female body.
People with Klinefelter syndrome are born with XXY chromosomes, resulting in reduced testosterone levels, lower muscle mass, less facial hair, osteoporosis, and infertility in adulthood. Children with XXY chromosomes can face bullying in childhood due to the development of wider hips and gynecomastia or breast growth. Early detection and treatment can alleviate many of the symptoms such as associated learning difficulties.
With mosiacism, different sets of co-existing chromosomes develop within one body from one zygote. With Mosaic Turner syndrome, some cells would have XX chromosomes and others a solitary X. With Mosaic Klinefelter syndrome only some cells would have XXY chromosomes.
Unlike mosaicism, chimerism occurs when two separate zygotes develop simultaneously within one same body. This could result in one intersex person, for example, with 46,XY/46,XX chromosomes rather than 46,XX or 46, XY.
Due to a hormonal variation, babies with 5 ARD deficiency, or 5 alpha reductase-3 deficiency, are born with XY chromosomes but may appear typically female at birth, developing masculine secondary characteristics at puberty.
People with Swyer syndrome are born with XY chromosomes, however their testes do not develop normally and instead they may be born with female appearing genitalia and a uterus.
Mayer-Rokitansky-Küster-Hauser, or MRKH, results in children having an atypical vagina, uterus, and fallopian tubes, but can also affect bone and heart development.
With ovotestis, people are born with a combination of a testis on one side and an ovary or ovotestis on the other. Ovotestis are gonads that are composed of both ovarian and testicular tissue. Their genitalia may appear typical for male or female babies at birth or fall somewhere between the two.
People with aphallia are born without a phallus, so they have neither a penis nor a clitoris.
People with epispadias have the meatus, or urethral opening, located on the upper side of the phallus rather than the tip.
People with PMDS – Persistent Müllerian Duct Syndrome, have XY chromosomes and develop fallopian tubes and a uterus along with development of the upper part of a vagina.
Micropenis is the term used to describe a penis that is considered to be of an unacceptable and insufficient length by medical professionals. Although there is no correlation between penis sizes in infancy and adulthood, many children with micropenises have been assigned female at birth on the advice of doctors.
With PCOS – Polycystic Ovary Syndrome, the ovaries produce higher than typical amounts of androgens often leading to symptoms such as ovarian cysts, weight gain, infertility, and hirsutism – thick, often dark hair on the face, torso and upper legs.
People with Turner syndrome have one X chromosome rather than XX. Sometimes the second X is present but underdeveloped. People with Turner syndrome can have delayed puberty and may struggle with fertility issues later on. With early detection, many associated symptoms such as reduced stature and delayed puberty.