Turner Syndrome

One of the causes of primary female hypogonadism is Turner syndrome. About 1 in 4,000 live female births have this chromosomal abnormality where the Y sex chromosome is missing. The majority of 45 X pregnancies end up with spontaneous miscarriages, the rest are born as Turner syndromes. Among them about half are pure 45 X chromosomal abnormalities, the rest are various socalled "mosaics".

Stable Turner mosaic syndrome consists of a mixture of (45 X and 46 XX) or a mixture of (45X and 47XXX). This is the reason why the appearance of a person with Turner syndrome can vary from case to case to the point where at the one end of the spectrum a female has the typical Turner syndrome appearance, but at the other end of the spectrum the affected person looks like a normal female. In the latter case the diagnosis might only be made during the work-up in an infertility clinic.

Some of the typical features of Turner syndrome are: Puffy back of he hands and top of the feet from blockage in lymphatic drainage; skin folds from neck to shoulders ("webbing of neck"); stature is short, chest is broad with nipples that are widely spaced; low hairline in the neck region; many pigmented nevi (brown spots) on the skin; 4th metatarsal bones and 4th metacarpal bones shortened (easily verified by X-rays of feet and hands); aortic valve disease; kidney abnormalities are common; hemangiomas are also common and if these are in the gastrointestinal tract, a bleeding small intestine can result from this.

Intelligence of persons with Turner syndrome is within the normal range, however math skills are often poor, but they excel in language skills. Ovaries are replaced with fibrous tissue, so during the expected time of puberty there is no breast development and periods do not develop. Female hormone replacement will bring on puberty and breast development. However, due to missing eggs in the ovarian streaks there is infertility. To complicate things, in about 5% to 10% of Turner syndrome females puberty happens normally and in rare cases normal pregnancy has also occurred. These cases likely were mosaic Turner syndromes.

More info about Turner syndrome can be found under this link.

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Chromosomal Abnormalities

Disclaimer:

This outline is only a teaching aid to patients and should stimulate you to ask the right questions when seeing your doctor. However, the responsibility of treatment stays in the hands of your doctor and you.

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Last Modified: Jan. 3, 2009