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Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled.
While initially described as affecting male carriers, female carriers of the FMR1 gene mutation have also been found to develop FXTAS. However, due to X-inactivation, female carriers are much less likely to develop dementia or classic ataxia and tremor, instead demonstrating symptoms such as fibromyalgia, thyroid disease, hypertension, and ...
Fragile X-associated primary ovarian insufficiency (FXPOI) is the most common genetic cause of premature ovarian failure in women with a normal karyotype 46,XX. [1] The expansion of a CGG repeat in the 5' untranslated region of the FMR1 gene from the normal range of 5-45 repeats to the premutation range of 55-199 CGGs leads to risk of FXPOI for ovary-bearing individuals. [2]
The zygotes merge early enough that there is no risk of them developing into conjoined twins. [14] Variations of this mechanism include fertilization of an ovum and its first or second polar body by two sperm. [15] 46,XX/46,XY can also be explained by a mosaic-based mechanism. A single zygote is formed from the fertilization of a normal X ovum.
A karyotype (to evaluate for Turner's Syndrome) and a Fragile-X premutation carrier analysis is also recommended, with additional genetic testing possibly being warranted based on family history of amenorrhea or early menopause or signs and symptoms of a genetic disorder. [10]
Signs and symptoms of pregnancy are common, benign conditions that result from the changes to the body that occur during pregnancy. Signs and symptoms of pregnancy typically change as pregnancy progresses, although several symptoms may be present throughout. Depending on severity, common symptoms in pregnancy can develop into complications. [1]
XX gonadal dysgenesis is a type of female hypogonadism in which the ovaries do not function to induce puberty in a person assigned female at birth, whose karyotype is 46,XX. [1] Individuals with XX gonadal dysgenesis have normal-appearing external genitalia as well as Müllerian structures (e.g., cervix, vagina, uterus).
FMR1 (Fragile X Messenger Ribonucleoprotein 1) is a human gene [5] that codes for a protein called fragile X messenger ribonucleoprotein, or FMRP. [6] This protein, most commonly found in the brain, is essential for normal cognitive development and female reproductive function.