Turner syndrome is characterized by which karyotype and puberty outcome?

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Multiple Choice

Turner syndrome is characterized by which karyotype and puberty outcome?

Turner syndrome comes from loss of one X chromosome in females, most often a 45,X karyotype. This monosomy leads to gonadal dysgenesis with streak ovaries, resulting in little to no endogenous estrogen production and typically absent or delayed puberty unless estrogen replacement is given. Some individuals with mosaic 45,X/46,XX may have some pubertal development, but spontaneous puberty is often incomplete without treatment. The other conditions listed involve different chromosomal patterns and do not produce the same pubertal outcome.

Turner syndrome comes from loss of one X chromosome in females, most often a 45,X karyotype. This monosomy leads to gonadal dysgenesis with streak ovaries, resulting in little to no endogenous estrogen production and typically absent or delayed puberty unless estrogen replacement is given. Some individuals with mosaic 45,X/46,XX may have some pubertal development, but spontaneous puberty is often incomplete without treatment. The other conditions listed involve different chromosomal patterns and do not produce the same pubertal outcome.

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