Intersex Variations
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Chromosomal Anomalies
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Trisomy X (XXX) Syndrome (mosaic or full)
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Jacob’s (XYY) Syndrome (mosaic or full)
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Mosaic chromosomes (primarily mosaic presentation)
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Hormone, Receptor, Enzyme Deficiency/Mutation
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Mosaicism not otherwise specified
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Chromosomal Translocation
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Chromosomal Fragmentation
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Chromosomal Inversion
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Other chromosomal anomaly
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​​CAH (Congenital adrenal hyperplasia )
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Inborn errors of steroid metabolism
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XY 17-β-hydroxysteroid dehydrogenase III deficiency
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XY Cytochrome b5 deficiency
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p450 oxidoreductase deficiency
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Combined 17 alpha-hydroxylase/17,20-lyase deficiency
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Isolated 17,20-lyase deficiency
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3-β-hydroxysteroid dehydrogenase deficiency
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Aromatase excess syndrome
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Aromatase deficiency syndrome</ul>Androgen insensitivity​
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CAIS/ICAIS
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PAIS
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MAIS
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Estrogen insensitivity
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5-alpha reductase deficiency
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Persistent Mullerian Duct Syndrome (PMDS)
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Kallmann’s Syndrome
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Smith-Lemli-Opitz Syndrome
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Hypogonadotropic hypogonadism​
Sex-Determinant Gene Mutation
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De La Chapelle syndrome (XX positive SRY)
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Other XX testicular DSD (SOX3, other sex reversal)
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XX OTDSD (SOX8 mutation, other)
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Swyer Syndrome (XY negative SRY)
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SRY fragmentation
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MRKH
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XY gonadal dysgenesis
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​XX Agonadism
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XY anorchia
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XY Campomelic Dysplasia
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XX vaginal atresia/dysgenesis
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XY GATA4 mutation
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Steroidogenic Factor 1 Mutation (SF1/NR5A1)
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Idiopathic DSD
Intersex conditions can also be caused due to
non genetic causes such as
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Chemical exposure
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Teratogen exposure
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Progestin induced virilization
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Androgen induced virilization
Male Turner Syndrome (X0/XY, predominately male phenotype)
“Male Turner syndrome” would usually describe a 5 sex characteristics presentation something along the lines of:
45, X0/46, XY chromosomal makeup Bilateral testes (one or both may be partially dysgenic, or one may be a streak or absent respectively [monorchia]) Prostate, seminal vesicles (may be underdeveloped), may have some mullerian structures (EX: part of or an underdeveloped uterus or cervix) Penis, scrotum (male genitalia), may have some genital differences (Micropenis, hypospadias) or may have genital ambiguity (link) Usually testosterone dominant, though may have lowered testosterone production
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Alongside some of the non-sex related phenotypes and physical differences that may be associated with Turner syndrome, such as:
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Short stature
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Webbed neck
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Skeletal anomalies
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Cardiovascular malformations
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Renal malformations
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Short neck
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Low set ears
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Low neck hairline
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Barrel shaped chest
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General growth delay
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And others
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Due to both the partial loss of the second sex chromosome, and partial retention of the Y chromosome and SRY gene, a person who has male Turner syndrome will have the non-sexual phenotype associated with TS, while still having only testicular tissue. And due to only having testes or a testis, most people with male TS will either have a full, or partially incomplete male puberty if they have gonadal insufficiency/hypoplasia or dysgenesis.
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"Are there any people with male Turner syndrome who have slightly different presentations?"
Yes, some people will have partial Y loss that does not present as chromosomal mosaicism. Some people might have a deletion to the long or short arm of the Y chromosome, or a ring Y chromosome and present with the Male TS phenotype. Occasionally people with female or female-leaning external genitals will present with an otherwise male TS phenotype.
“Do some people with a 45, X0/46, XY chromosomal makeup not have male TS?”
Yes! Some people will have a mixed gonadal dysgenesis phenotype or a partial gonadal dysgenesis phenotype without the TS physical differences, or will have the sex characteristics more common in other forms of partial monosomy X.
“Can people with male TS produce sperm?”
Some people with male TS can produce sperm and are fertile naturally, others may have more difficulty with sperm production and may seek medical assistance, and others may be mostly or completely infertile.
Related Resources
Turner syndrome
Turner syndrome (TS) is a DSD that describes a partial or complete loss of the second sex chromosome, usually resulting in particular phenotypic presentations and a distinct physical appearance. Turner syndrome can present in many ways for many people for different reasons.
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Full Monosomy X:
Full Monosomy X Turner syndrome may be a more familiar variation of TS to some. People with a complete loss of the second sex chromosome, or full monosomy X Turner syndrome, will usually have the following 5 sex characteristics:
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45,X0 sex chromosomes
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Streak gonads or dysgenic ovaries
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Uterus, cervix, fallopian tubes, underdeveloped
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Vulva: Clitoris, labia minora, labia majora, vagina, may have some genital underdevelopment
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Usually pre-pubertal sex hormone values
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Because of the gonadal dysgenesis that people with full monosomy X TS have, their mullerian structures are usually underdeveloped mostly as a result of low estrogen and progesterone production. Because of their streak gonads or dysgenic ovaries, most people with full monosomy X TS do not develop at all upon puberty. Though there is often some auxiliary hair growth and sometimes tanner grade 1 breast development. There is usually no naturally occurring menstruation in full monosomy X TS because of the degree of gonadal dysgenesis. Though with hormonal supplementation of estrogen and/or progesterone, many people with full monosomy X TS can and do menstruate.
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All people with full monosomy X TS will usually present with some of the following non-sexual physical differences:
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Short stature
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Webbed neck
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Skeletal anomalies
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Cardiovascular malformations
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Renal malformations
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Short neck
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Low set ears
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Low neck hairline
-
Barrel shaped chest
-
General growth delay
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And others
​​
“Aside from physical differences, doesn’t full monosomy X TS usually result in intellectual disability?”
It is a somewhat common misconception that most people with full monosomy X TS have intellectual disability. While people with full monosomy X TS may be more disposed to things like speech delay or learning difficulties as compared to the general population, it is a minority of people with full monosomy X TS that have an intellectual disability. Though of course, it is important to be considerate and respectful of people in general, no matter their intellectual capabilities.
“Are there any people with full monosomy X TS that have slightly different presentations?”
Yes! Some people with full monosomy X TS will have hypoplastic ovaries as opposed to streak gonads or dysgenic ovaries. Usually people with hypoplastic ovaries or generally less gonadal dysgenesis will produce more sex hormones come puberty. It is uncommon for anybody with full monosomy X TS to naturally experience a full female puberty, but people with less ovarian dysgenesis can experience some more secondary sex development. Such as more breast growth, auxiliary hair growth, and in some menstruation.
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“Can people with full monosomy X TS produce eggs, are there any fertility options for people with full monosomy X TS?”
Usually people with full monosomy X TS are infertile and are unable to conceive without medical assistance. Sometimes Oocyte cryopreservation is possible, though often proves challenging. Though ovarian tissue cryopreservation is a promising upcoming development as a fertility option for people with full monosomy X TS. And of course, oocyte/egg donation/implantation, or embryo implantation has proven successful in people with full monosomy X TS who desire to carry a child.
“Are there any people with an 45, X0 chromosomal makeup with a predominantly male phenotype?”
While generally people with an 45, X0 chromosomal makeup have a predominantly female phenotype, there are some people with predominantly male phenotypes! Usually this is due to SRY translocation, and/or a very small part of the Y chromosome being translocated (attached) to another chromosome. In this presentation, the SRY gene and/or Y chromosome material triggers the development of testes, and subsequent male external genitalia.
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Related Resources
Partial monosomy X (X0/XX)​
Similarly to male Turner syndrome, the second sex chromosome is partially, but not fully lost. Differently from male TS, partial monosomy X TS retains some of the second X chromosome, whereas in male TS some of the Y chromosome is retained.
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Partial monosomy X TS can have a degree of presentation! Difference in presentation from person to person is often due to the amount of cells within the body that have an 45, X0 or 46, XX chromosomal makeup respectively. Depending on how many of the body’s cells are 45, X0, and depending on how many of the body’s cells 46, XX, and where each of either cell makeup is most concentrated, can and will produce some differences.
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Despite the variation in presentation we can see in partial monosomy X TS, usually the 5 sex characteristics will be something like:
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45, X0/46,XX chromosomal makeup
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Dysgenic ovaries, hypoplastic ovaries, small ovaries, or streak gonads
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Uterus, cervix, Fallopian tubes, usually underdeveloped
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Vulva: clitoris, labia minora, labia majora, vagina
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Estrogen dominant, though often lowered and temporary estrogen production
​
Male Turner Syndrome (X0/XY, predominately male phenotype)
“Male Turner syndrome” would usually describe a 5 sex characteristics presentation something along the lines of:
45, X0/46, XY chromosomal makeup Bilateral testes (one or both may be partially dysgenic, or one may be a streak or absent respectively [monorchia]) Prostate, seminal vesicles (may be underdeveloped), may have some mullerian structures (EX: part of or an underdeveloped uterus or cervix) Penis, scrotum (male genitalia), may have some genital differences (Micropenis, hypospadias) or may have genital ambiguity (link) Usually testosterone dominant, though may have lowered testosterone production
​
Alongside some of the non-sex related phenotypes and physical differences that may be associated with Turner syndrome, such as:
-
Short stature
-
Webbed neck
-
Skeletal anomalies
-
Cardiovascular malformations
-
Renal malformations
-
Short neck
-
Low set ears
-
Low neck hairline
-
Barrel shaped chest
-
General growth delay
-
And others
​
Due to both the partial loss of the second sex chromosome, and partial retention of the Y chromosome and SRY gene, a person who has male Turner syndrome will have the non-sexual phenotype associated with TS, while still having only testicular tissue. And due to only having testes or a testis, most people with male TS will either have a full, or partially incomplete male puberty if they have gonadal insufficiency/hypoplasia or dysgenesis.
​
"Are there any people with male Turner syndrome who have slightly different presentations?"
Yes, some people will have partial Y loss that does not present as chromosomal mosaicism. Some people might have a deletion to the long or short arm of the Y chromosome, or a ring Y chromosome and present with the Male TS phenotype. Occasionally people with female or female-leaning external genitals will present with an otherwise male TS phenotype.
“Do some people with a 45, X0/46, XY chromosomal makeup not have male TS?”
Yes! Some people will have a mixed gonadal dysgenesis phenotype or a partial gonadal dysgenesis phenotype without the TS physical differences, or will have the sex characteristics more common in other forms of partial monosomy X.
“Can people with male TS produce sperm?”
Some people with male TS can produce sperm and are fertile naturally, others may have more difficulty with sperm production and may seek medical assistance, and others may be mostly or completely infertile.
Related Resources
Klinefelter syndrome
Turner syndrome (TS) is a DSD that describes a partial or complete loss of the second sex chromosome, usually resulting in particular phenotypic presentations and a distinct physical appearance. Turner syndrome can present in many ways for many people for different reasons.
​
​
Male Turner Syndrome (X0/XY, predominately male phenotype)
“Male Turner syndrome” would usually describe a 5 sex characteristics presentation something along the lines of:
45, X0/46, XY chromosomal makeup Bilateral testes (one or both may be partially dysgenic, or one may be a streak or absent respectively [monorchia]) Prostate, seminal vesicles (may be underdeveloped), may have some mullerian structures (EX: part of or an underdeveloped uterus or cervix) Penis, scrotum (male genitalia), may have some genital differences (Micropenis, hypospadias) or may have genital ambiguity (link) Usually testosterone dominant, though may have lowered testosterone production
​
Alongside some of the non-sex related phenotypes and physical differences that may be associated with Turner syndrome, such as:
-
Short stature
-
Webbed neck
-
Skeletal anomalies
-
Cardiovascular malformations
-
Renal malformations
-
Short neck
-
Low set ears
-
Low neck hairline
-
Barrel shaped chest
-
General growth delay
-
And others
​
Due to both the partial loss of the second sex chromosome, and partial retention of the Y chromosome and SRY gene, a person who has male Turner syndrome will have the non-sexual phenotype associated with TS, while still having only testicular tissue. And due to only having testes or a testis, most people with male TS will either have a full, or partially incomplete male puberty if they have gonadal insufficiency/hypoplasia or dysgenesis.
​
"Are there any people with male Turner syndrome who have slightly different presentations?"
Yes, some people will have partial Y loss that does not present as chromosomal mosaicism. Some people might have a deletion to the long or short arm of the Y chromosome, or a ring Y chromosome and present with the Male TS phenotype. Occasionally people with female or female-leaning external genitals will present with an otherwise male TS phenotype.
“Do some people with a 45, X0/46, XY chromosomal makeup not have male TS?”
Yes! Some people will have a mixed gonadal dysgenesis phenotype or a partial gonadal dysgenesis phenotype without the TS physical differences, or will have the sex characteristics more common in other forms of partial monosomy X.
“Can people with male TS produce sperm?”
Some people with male TS can produce sperm and are fertile naturally, others may have more difficulty with sperm production and may seek medical assistance, and others may be mostly or completely infertile.
Related Resources
Other sections
Turner syndrome (TS) is a DSD that describes a partial or complete loss of the second sex chromosome, usually resulting in particular phenotypic presentations and a distinct physical appearance. Turner syndrome can present in many ways for many people for different reasons.
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