The most common intersex diagnoses

Intersex is a word that means the experience of people born with sexual characteristics do not
fit the definition of a typically male or female body. The word intersex does not mean mandatory presence of characteristics of both sexes, means the body can have either innate sexual characteristics, which differ from the typical structure of the male or of the female body. Intersex does not only refer to the genitals, but it is comprehensive a term that combines about 40 different variations of sexual characteristics – chromosomes, gonads, genitals, reproductive organs and hormone levels.

A person can find out that he has a variation of an intersex condition at any age. Intersex variations are most often manifested during puberty, and can pass as well unnoticed or appear as an atypical condition. For example: a girl does not get a cycle and / or a boy, if it does not start masculinization or feminization of a man may occur. Sometimes they are intersex variations noticeable at birth, for example, if the baby is born with atypical (partially formed) genitals. Sometimes a person can find out if there is intersex variation, when trying to conceive, and can happen to a person never finds out they have intersex variation.

Intersex variations refer only to body anatomy, to sexual characteristics and are not related to sexual orientation and gender identity. Intersex persons can be of any sexual orientation and gender identity. Intersex persons do not have a “third sex” and most intersex persons identify as male or woman.

Intersex does not mean a hermaphrodite. Humans (and mammals in general) are not hermaphrodites in the full sense of the word. Humans cannot have two reproductive systems or a double set genitals, both male and female, at the same time. People are just intersex, and Intersex is an umbrella term covering a wide range of sexual characteristics. Most intersex persons are born with typical male / female genitalia, and their variations in sexual characteristics are internal, but a certain percentage of intersex persons are born with variations in genital structure. From 0.5% to 1.7% of people in the world have one body variation, according to data collected by the United Nations.

Androgen insensitivity syndrome (AIS)

People with AIS have XY chromosomes and are partially or completely insensitive to androgen. They have no ovaries or uterus. They may have little or no underarm hair, acne or body odor, and they may have pale nipples. AIS occurs in different gradations, and a distinction is made between CAIS (complete) and PAIS (partial).

Complete androgen insensitivity syndrome (CAIS)

People with CAIS almost always feel themselves as women and their external genitals look female. Most often CAIS is detected in puberty when a girl misses her period, and in some cases when an inguinal hernia appears or because it is known to run in the family. People with CAIS have male internal sex organs (testes) that are undescended and located in the pelvis or abdomen. If they are not surgically removed, undescended testes have a small chance of becoming cancerous later in life.

Partial Androgen Insensitivity Syndrome (PAIS)

Partial androgen insensitivity typically results in “ambiguous genitalia.” The clitoris is large or, alternatively, the penis is small and with hypospadias. Partial androgen insensitivity may be quite common, and has been suggested as the cause of infertility in many men whose genitals are of typically male appearance. Hormonal tests in a newborn with a 46, XY karyotype and ambiguous genitals will show normal to elevated testosterone and LH, and a normal ratio of testosterone to DHT. A family history of ambiguous genitals in maternal relatives suggests PAIS. Partial forms of testosterone biosynthesis defects can also be 5alpha-RD2 and 17beta-HSD3.

Congenital adrenal hyperplasia (CAH)

CAH occurs when there is a broken genetic ‘recipe’ for making cortisone in the adrenal glands (the glands on top of the kidneys that produce various hormones). When the recipe is broken, the adrenal glands, while trying to make cortisone, make an unusually high level of hormones that can cause virilization (masculinization). XX embryos can develop larger than average clitorises, or even a clitoris that looks rather like a penis, or labia that look like a scrotum. The Prader scale can be used to measure the degree of virilization of baby genitalia. In later development, a girl can have characteristics associated with male hormones (androgens), such as muscle bulk, body hair and a deep voice. The metabolic effects of CAH can be counteracted with cortisone. However, the long-term use of cortisone itself produces significant dependence and other side effects. CAH also occurs in XY individuals, and requires medical attention as it has “significant impacts on health”, but it does not cause ambiguous genitalia.

Klinefelter syndrome

This syndrome, also known as 47, XXY, only affects babies born as boys. They have an extra X chromosome in addition to the usual 46 chromosomes. The syndrome affects roughly 1 in 600 or 700 men, making it one of the most common types of intersex conditions. Males with this syndrome produce insufficient testosterone, leading to late onset of puberty and some times failure to complete puberty. The penis and testes are relatively small prior to puberty. Boys develop less muscle mass and have altered bodily distribution of fat and in some cases breast for mation. The testes remain underdeveloped in adulthood. This syndrome may be accompanied by a list of symptoms, including problems with concentration, memory, coordination, fatigue, expression of emotions and social interaction. Testosterone in different forms (gel, injection or capsule) is prescribed to increase energy, to improve concentration, to increase libido, to develop muscle mass and to alter the fat distribution around their body. The syndrome also reduces the risk of osteoporosis and can cause problems with fertility.

Turner syndrome

Turner syndrome is also known as 45, X or 45, X0, where the person affected has 45, X in some cells and, for example, 46, XX or 46, XY in others. This syndrome affects girls and women and the development of their ovaries, the production of sex hormones, height and physical sexual maturity. Those affected are almost always short in stature and have different combinations of symptoms including a wide and/or short neck and a low hairline at the back of the neck. Turner syndrome can also cause heart, kidney, thyroid gland and hearing problems; incidence of diabetes; high blood pressure; reduced motor development; and deficiencies in spatial awareness and short term memory. No cure for Turner syndrome is known. Treatment can include human growth and estrogen replacement therapy.

Mayer-Rokitansky-Küster-Hauser syndrome (MRKH)

MRKH occurs only in females and is found in two types. MRKH syndrome type 1 affects reproductive organs and can cause skeletal abnormalities, particularly of the spinal bones. MRKH syndrome type 2 affects kidneys in formation or position, or one kidney may fail to develop (unilateral renal agenesis). Those affected can have hearing loss or heart defects. MRKH is usually discovered during puberty, because of a missing period or kidney problems.

Swyer syndrome

Swyer syndrome is also known as XY gonadal digenesis. A person is born without functional gonads (sex glands). The gonads can have minimally developed tissue in place of testes or ovaries. A child born with Swyer syndrome looks like a typical female. In puberty, secondary sex characteristics will not develop. Hormone replacement therapy can be used to initiate the period, to develop female secondary sex characteristics and to reduce the risk of low bone density (osteopenia and osteoporosis).


Ovotestes are gonads (sex glands) containing both ovarian and testicular tissue. A person may have both ovotestis, or they may have a combination of an ovary on one side and a testis or ovotestis on the other. Babies born with ovotestes have “ambiguous genitalia” and some can have labioscrotal fusion and/or hypospadias. If ovarian tissue is at least partially developed, a person can grow breasts and have a period. Sex hormone replacement therapy can be helpful for those with delayed puberty.


Hypospadias is a condition where the external opening of the urethra (urinar meatus) is not located at the tip of the penis. The urethral opening can be located anywhere along the length of the penis or in the scrotum, and the foreskin is usually split. There are a few types of hypospadias: distal or granular (when the opening is found near the head of the penis), midshaft (when the opening is found in the middle to the lower shaft of the penis), penoscrotal (when the opening is found where the penis and scrotum join) and perineal (when the opening is behind the scrotal sac). If the opening is closer to the scrotum, there is a greater chance of a curved penis. The position and shape of the urethral opening can make it difficult to urinate while standing and/or enable ejacula tion. The function and appearance of the penis can be medically altered. Boys with hypospadias are fertile.

For all who have found themselves in any of these descriptions (diagnoses), we are here to help you and support you.

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