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DSD

DSD stands for Disorders or Differences of Sex Development and is a term that is often used by medical professionals. It is a collection of medical diagnoses that describe how the natural development of sex characteristics occurred for specific forms of sex diversity. It is sometimes also used by intersex people. Some prefer this terminology, others use it in specific situations, for instance when speaking to health care workers. Both patient organizations and intersex activists disliked the word ‘disorders’, because of its strong negative connotations. It is often seen as stigmatizing and medicalizing. Nowadays, ‘differences’ is often used instead of ‘disorders’. However, ‘differences’ is not ideal either because it suggests that another group sees itself as the norm. In sociology, this is called ‘othering’. Still, it is a word that is helpful to know when referring to health care when it comes to intersex people.

It mostly does not matter what kind of DSD variation you have, because sex is a spectrum with infinite variations of unique combinations of sex characteristics, and everyone, including men and women who are not intersex, is somewhere on that spectrum. On the other hand, it can be important to know what kind of DSD diagnosis you have because it allows intersex people to recognize themselves and their bodies. Some forms of sex diversity described as DSD require health care. It is essential to be informed about your body, health, and options, so that you can make informed decisions on the kind of health care you want and need.

Differences or Disorders of Sex Development (DSD) are defined as medical conditions involving the following elements:

  • Congenital development of ambiguous genitalia
    (e.g., 46,XX virilizing congenital adrenal hyperplasia; clitoromegaly; micropenis)
  • Congenital disjunction of internal and external sex anatomy
    (e.g., Complete Androgen Insensitivity Syndrome; 5-alpha reductase deficiency)
  • Incomplete development of sex anatomy
    (e.g., vaginal agenesis; gonadal agenesis)
  • Sex chromosome anomalies
    (e.g., Turner Syndrome; Klinefelter Syndrome; sex chromosome mosaicism)
  • Disorders of gonadal development
    (e.g., ovotestes)

List of DSD variations

This is an incomplete list of DSD variations. There are about 40 diagnoses that are generally considered to be part of DSD. However, there is overlap in some diagnoses and there are regional differences. This indicates again how broad of a spectrum biological sex is, and that it can’t really be captured into categories. As a result this is not a complete list, and it can never be a complete list as there is no agreement on the exact terms. Also note that not all intersex people have a DSD diagnosis, either because a diagnosis could not be made, or because they were born with a form of sex diversity that isn’t considered a DSD, but is accepted by the intersex community, as these people have experiences resulting from being born with sex characteristics outside the normative social construct of male or female.

  • 17β-hydroxysteroid dehydrogenase 3
    A particular substance that converts a hormone into another hormone. If this substance is missing, no testosterone is produced and a child with XY chromosomes cannot masculinize.
    17β-hydroxysteroid dehydrogenase 3 is the name of an enzyme that plays a role fairly early in the entire process of converting cholesterol to other hormones. This enzyme is important for the conversion of androstenedione to testosterone and estradiol to and from estrone. Also used with the addition of “deficiency” as a name for a form of sex diversity in which a child with XY chromosomes is sensitive to androgens, but in which the body doesn’t (fully) masculinize before birth because no testosterone is formed.
  • 17,20 lyase
    A substance that converts a hormone into another hormone. If this substance is missing, no testosterone is produced and a child with XY chromosomes cannot masculinize.
    The name of an enzyme that plays a role quite early in the whole process of conversion of cholesterol to other hormones. This enzyme is important for the conversion of 17-oh-pregnenolone to DHEA and 17-oh-progesterone to andres-tenedione. Also used with the addition of “deficiency” as a name for a form of sex diversity in which a child with XY chromosomes is sensitive to androgens, but in which the body cannot (fully) masculinize before birth because no testosterone is formed.
  • 21-hydroxylase deficiency
    The most common form of congenital adrenal hyperplasia (CAH).
  • 7α-hydroxylase
    A substance that converts a hormone into another hormone. If this substance is missing no testosterone is produced and a child with XY chromosomes cannot masculinize.
    The name of an enzyme that plays a role quite early in the whole process of conversion of cholesterol to other hormones. This enzyme is important for the conversion of pregnolone to 17-oh-pregnenolone and progesterone to 17-oh-progesterone. Also used with the addition of “deficiency” as a name for a form of sex diversity in which a child with XY chromosomes is sensitive to androgens, but in which the body cannot (fully) masculinize before birth because no testosterone is formed.
  • 3β-hydroxysteroid dehydrogenase 2
    A substance that converts a hormone into another hormone. If this substance is missing, no testosterone is produced and a child with XY chromosomes cannot masculinize.
    3β-hydroxysteroid dehydrogenase 2 is the name of an enzyme that plays a role fairly early in the entire process of converting cholesterol to other hormones. This enzyme is important for the conversion of pregnenolone to progesterone, 17-oh-pregnenolone to 17-oh-progesterone and DHEA to androstenedione. Also used with the addition of “deficiency” as a name for a form of sex diversity in which a child with XY chromosomes is sensitive to androgens, but in which the body cannot (fully) masculinize before birth because no testosterone is formed.
  • 47 XXX syndrome, also often referred to as trisomy X or triple X syndrome. 47 XXX is characterized by the presence of an extra (third) X chromosome in female cells (usually there are two X chromosomes). This extra X chromosome can mean that the person is quite tall, among other features in some girls or women. This group also has a larger chance of seizures or kidney abnormalities; in about 10 percent of the females with an extra X chromosome. Some women may need treatment, if specific symptoms are present.
  • Mayer-Rokitansky-Küster-Hauser syndrome
    Form of sex diversity in which women with 46,XY chromosomes are born without a vagina and uterus. However, they do have ovaries.
    The construction of the uterus and vagina arise from the so-called Müllerian ducts. The two ducts lie up against each other in between the sixth and eighth week of pregnancy and thicken and fuse together as a result. In a woman born with MRK syndrome, the Müllerian ducts have been created, but the fusion has not taken place. However, part of the ducts grow into fallopian tubes that function normally. Ovulation occurs every month, and hormone levels change and follow a cyclical pattern.
    Externally, a person with MRKH develops like a woman, the external genitalia is present, at puberty the development of armpit hair starts, same for pubic hair and breast growth, however, menstruation does not occur and there is no vagina (sometimes a small dimple is present at the site). Note that the word vagina is often used to refer to the vulva. The vulva is actually the external female sex organs, it includes, among other things, the labia, clitoris, and vaginal opening.
  • 5α-reductase
    A particular substance that converts a hormone into another hormone. If this substance is not present in sufficient amounts, insufficient dihydrotestosterone (DHT) is produced and a child with XY chromosomes cannot fully masculinize.
    Isoenzyme that converts testosterone to the more potent dihydrotestosterone. Also written as 5-alpha reductase. Two types of this enzyme are known: type 1 and type 2.
  • 5α-reductase deficiency
    A form of sex diversity in which not enough of the hormone dihydrotestosterone (DHT) is produced in the childhood of a child with XY chromosomes to cause full masculinization. In many cultures, these children are initially raised as girls, but at puberty sufficient DHT is still produced, which can lead to masculinization.
    It is a DSD variation in which a lack of the enzyme 5α-reductase type 2 prevents testosterone from being converted to the more potent dihydrotestosterone. The karyotype is 46,XY and the phenotype can vary from almost entirely female to entirely male in which the prostate is underdeveloped or completely absent. Children with 5α-reductase deficiency (5α) are usually born with almost entirely typically female external genitalia, but if the gonads are not removed before puberty a large degree of masculinization will occur. 5α is a fairly rare diagnosis because it is autosomal recessively inherited: both parents must be carriers of the gene that causes 5α-reductase deficiency.
    Several studies have been published in the past stating that children with 5α who were raised as girls still choose a male gender role at puberty. The question is to what extent the gender choice of these children is influenced by the social position which is strongly gendered. A male often has better opportunities in the geographical areas where 5α is fairly common.
    The diagnosis of 5α is usually made when it appears that in a girl with XY chromosomes or in an undervirilized boy, a high testosterone level is accompanied by a low dihydrotestosterone level (the so-called T/DHT ratio). Nowadays, it is also possible to determine 5α through DNA testing.
  • Congenital Andrenal Hyperplasia
    Congenital Andrenal Hyperplasia (CAH) is an autosomal recessively inherited diagnosis in which the body makes too many androgens in the adrenal glands. Although this form of sex diversity occurs in both normative definitions of ‘boys’ and ‘girls’, it is more profound for girls because depending on the amount of androgens, the external sex characteristics can be mild to more masculinized. Due to a hormonal imbalance, dehydration also often occurs during the week of birth. Cardiac arrhythmias may also occur due to a lack of essential minerals.
    Nowadays, all children are checked for CAH shortly after birth via the neonatal heel prick test, which allows for rapid intervention and prevents further masculinization.
    Congenital Andrenal Hyperplasia (CAH): 21-hydroxylase deficiency is the most common form of CAH.
  • Androgen Insensitivity Syndrome
    A DSD diagnosis in which the body of a child with XY chromosomes has limited to no response to androgens (‘male’ hormones) because of a change on the Androgen Receptor gene. The child is then born with a completely or partially ‘female’ body (as perceived by societal standards). A distinction is made between Complete Androgen Insensitivity Syndrome (CAIS) and Partial Androgen Insensitivity Syndrome (PAIS).
    In CAIS, the body is completely insensitive to androgens and no masculinization will take place at all. Because of this, children with CAIS are always assigned the female sex. Because of the androgen insensitivity, people with CAIS have no or little armpit hair, no or little pubic hair, often light coloured nipples, no perspiration odour and no pimples during puberty. People used to think children with CAIS always develop a female gender identity, but this is of course not true. Just like any other people, people with CAIS can develop any gender identity. In PAIS, gender assignment based on how masculine or feminine a person’s external sex characteristics look is less obvious for medical professionals than in CAIS. This is because the body is partially sensitive to androgens. Depending on the degree of androgen insensitivity, mild to severe masculinization may occur. With mild masculinization, only the clitoris will be slightly enlarged and generally the female sex will be assigned. But if the androgen insensitivity is very mild, one then speaks of Mild AIS (MAIS), and then the male sex will often be assigned.
  • Gonadal dysgenesis
    A DSD diagnosis when people have XY chromosomes and very or slightly underdeveloped testes. XY gonadal dysgenesis is also known as Swyer syndrome. In gonadal dysgenesis, a uterus may be present. Whether or not gonadal dysgenesis creates a uterus depends on the amount of testosterone that is produced. If the testes are missing (complete gonadal dysgenesis) or are little more than a clump of cells (partial gonadal dysgenesis) no Anti-Müllerian hormone (AMH) will be produced either. As a result, the Müllerian duct will continue to develop, creating a uterus with fallopian tubes.
    The gonads will not be produced; instead, connective tissue strands without gonad tissue will develop, these connective tissue strands are called ‘streak gonads’.
    The lack of gonads also means that the hormones that cause breast growth at puberty are not there. Also, people with gonadal dysgenesis will not menstruate. Because testosterone is produced by the adrenal glands, armpit and pubic hair will grow at puberty.
    In complete gonadal dysgenesis, the external sex is what is perceived in society as female. In partial gonadal dysgenesis, the external sex may not be immediately recognizable.
  • Hypospadias
    This from of sex diversity means the urethra of people who are typically perceived by society as men does not oprn at the top of the penis, but lower down on the penis, from the near top to the base of the penis.
  • Klinefelter Syndrome
    A DSD diagnosis characterized by a number of features, the best known having one or more extra X chromosomes and one Y chromosome.
    In 1942, American physician Harry F. Klinefelter Jr. noticed that a striking combination of symptoms occurred in some men who visited him in connection with infertility. These men had remarkably small testicles, decreased sperm production, and some of them had breast formation. About half of these men also had relatively long arms and legs.
    Such a combination of symptoms is called a syndrome. Because Klinefelter had described it for the first time, the syndrome was named after him. Only in the 1950s did it become clear that there is a chromosomal variation: people with Klinefelter’s syndrome have an extra X chromosome. These people are typically perceived by society as men and often identify as men. Their karyotype is therefore 47,XXY. Some people with Klinefelter’s syndrome even have more than one extra chromosome: 48,XXXY or 49,XXXXY. In 10 percent of cases, there are several mosaic patterns (XY/XXY, XY/XXXY, and so on). These variations are also often counted as Klinefelter’s Syndrome.
  • Leydig cell hypoplasia
    DSD diagnosis that entails having XY chromosomes but not masculinizing as one would typically expect, because the Leydig cells are unable to make testosterone or the precursor to testosterone. People may present at birth with genitalia that are viewed by society as typically female, or as atypical. In puberty the development of secondary sex characteristics can be absent or impaired.
  • Turner Syndrome
    DSD diagnosis that is characterized by having one X chromosome (45,X).
    Named after its discoverer, American Henry Hubert Turner (1892-1970). With a prevalence of 1 in 1500 births, Turner Syndrome is one of the most common chromosomal variations. Women with Turner Syndrome have only one X chromosome. Another sex chromosome is missing and therefore the karyotype in this form of sex diversity is 45, X. This is sometimes referred to as X-monosomy. Mosaic forms are also possible with some cells having only one X chromosome and others having two or three X chromosomes.
    The degree to which the features of the syndrome are apparent varies widely. At birth, there may be a webbed neck and swollen hands and feet. On the face, eye position, a broad nasal bridge, and low-set ears may be noticeable. In addition, there may be abnormalities of the heart or kidneys. In other cases, the child is only slightly shorter at birth and later grows more slowly than his peers (average length ca. 142 cm). If desired an additional growth of about ten centimeters in height can be achieved through growth hormones.
    Mental development is usually normal, with the verbal side, such as vocabulary, being better than spatial understanding.
    The most important feature is usually the lack of physical puberty development, such as breast development, growth of pubic and underarm hair, and menstruation. This is because the ovaries do not function adequately, so sex hormones are not produced. In adulthood, a disorder of the thyroid gland sometimes develops.

More information

You can read more on health care when it comes to being intersex on the following pages: