46, XX/46, XY is a chimeric genetic condition characterized by the presence of some cells that express a 46, XX karyotype and some cells that express a 46, XY karyotype in a single human being.
Description. Collapse Section. 46,XX testicular difference of sex development is a condition in which individuals with two X chromosomes in each cell, the pattern typically found in females, have a male appearance. People with this condition have male external genitalia .
A 46, XY disorder of sex development (DSD) is a condition in which an individual with one X chromosome and one Y chromosome in each cell, the pattern normally found in males, have genitalia that is not clearly male or female.
The person has the chromosomes of a man, but the external genitals are incompletely formed, ambiguous, or clearly female. Internally, testes may be normal, malformed, or absent. This condition is also called 46, XY with undervirilization. It used to be called male pseudohermaphroditism.
46,XY DSD are characterized by micropenis, atypical or female external genitalia, caused by incomplete intrauterine masculinization with or without the presence of Müllerian structures. Male gonads are identified in the majority of 46,XY DSD patients, but in some of them no gonadal tissue is found.
Females have two X chromosomes, while males have one X and one Y chromosome. A picture of all 46 chromosomes in their pairs is called a karyotype. A normal female karyotype is written 46, XX, and a normal male karyotype is written 46, XY.
46,XY females are rare. Data on the incidence are sparse and estimates vary widely. The incidences of AIS and gonadal dysgenesis are reported to be 1–5 per 100 000 births (11–13) and 1 per 80 000 births (7), respectively.
Turner syndrome
A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities.
Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby girls. A girl with Turner syndrome only has 1 normal X sex chromosome, rather than the usual 2.
Most girls with Turner syndrome are shorter than their peers, with an average final adult height of 4 feet 7 inches, and may have other related physical features. These can include: "webbing" of the skin of the neck (extra folds of skin extending from the tops of the shoulders to the sides of the neck)
Most girls with Turner syndrome do not produce enough of these sex hormones, which means: they may not begin sexual development or fully develop breasts without female hormone replacement therapy (HRT)
An individual with 46, XY hermaphroditism has one X and one Y chromosome, as is usually seen in males, but the external genitalia are either not completely formed, or resemble those of females. The internal sexual organs may be normal, incomplete or absent, depending on the specific case.
In most cases, having a Y chromosome means having no uterus, so pregnancy isn't possible. But for the very few XY females who have a uterus, pregnancy started with a donated egg is possible.
In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46. Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes, differ between males and females.
This means they have 47 chromosomes instead of 46. Down syndrome, Edward syndrome and Patau syndrome are the most common forms of trisomy. Children affected by trisomy usually have a range of birth anomalies, including delayed development and intellectual disabilities.
Most individuals with 47,XYY syndrome have normal production of the male sex hormone testosterone and normal male sexual development, and they are usually able to father children. 47,XYY syndrome is associated with an increased risk of learning disabilities and delayed development of speech and language skills.
“What will be the effect on our body if chromosome number is altered from 46?” If a body has too few or too many chromosomes, it usually won't survive to birth. Getting the number of chromosomes right is so complicated that nature often makes mistakes.
Most males have XY chromosomes and most women have XX chromosomes. But there are girls and women who have XY chromosomes. This can happen, for example, when a girl has androgen insensitivity syndrome. And there are boys and men who have XX chromosomes.
Discussion: In world scientific literature at least fifteen successful pregnancies with pure gonadal dysgenesis XY have been described. In spite of the expectation of diminished uterine capacity, children are born to term with a normal delivery weight.
The 46,XY female is characterised by a male karyotype and female phenotype arising due to any interruption in the sexual development pathways in utero. The cause is usually genetic and various genes are implicated.
Congenital Adrenal Hyperplasia. CAH, depending on the enzyme implicated, can cause 46,XY DSD or 46,XX DSD. 21-hydroxylase (CYP21A2) deficiency accounts for more than 90% of CAH, and represents the most common etiology of ambiguous genitalia in the newborn.
Klinefelter syndrome (KS) mosaicism 46,XX/47,XXY is an extremely rare disorder of sex development characterized by the presence of both ovarian and testicular tissues in the same individual.
People who are intersex may have a mix of chromosomes, such as XXY. Or they may have some cells that are XY and some cells that are XX. Or they may have just one X chromosome (XO). Other combinations can occur too.
Turner syndrome can affect: Appearance. Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward. Stature.