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48,XXYY syndrome is a condition related to the X and Y chromosomes (the sex chromosomes). People normally have 46 chromosomes in each cell.Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics.
The age of diagnosis varies depending on manifestations of disease prompting reason for cytogenetic testing. Many patients are diagnosed prenatally due to fetal factors (increased nuchal fold, or abnormal levels of serum ), maternal age or abnormal ultrasounds, while others will be diagnosed postnatal due to external genital malformation. [ 2 ]
Klinefelter syndrome is not an inherited condition. The extra X chromosome comes from the mother in approximately 50% of the cases. Maternal age is the only known risk factor. Women at 40 years have a four-times-higher risk of a child with Klinefelter syndrome than women aged 24 years. [14] [34] [35]
XY complete gonadal dysgenesis, also known as Swyer syndrome, is a type of defect hypogonadism in a person whose karyotype is 46,XY. Though they typically have normal vulvas, [1] the person has underdeveloped gonads, fibrous tissue termed "streak gonads", and if left untreated, will not experience puberty.
Females with MRKH are unable to carry a pregnancy due to a malformed uterus, but can have children via assisted reproduction. MRKH syndrome type 1 results when only reproductive organs such as vagina are affected (vaginal agenesis) and type 2 results when abnormalities develop in other parts of the body such as abnormal kidney formation ...
It is most problematic in genetic females, where severe virilization can result in funding of labia and an enlarged clitoris. [34] [35] Females with this condition are usually fertile, with the ability to become pregnant and give birth. The salt-wasting variety of this condition is fatal in infants if left untreated.
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Pelvimetry is the measurement of the female pelvis. [1] It can theoretically identify cephalo-pelvic disproportion, which is when the capacity of the pelvis is inadequate to allow the fetus to negotiate the birth canal. However, clinical evidence indicate that all pregnant women should be allowed a trial of labor regardless of pelvimetry ...