Turner Syndrome

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Abstract
In 1938, Dr. Henry H. Turner wrote: "the triad, infantilism, webbing of the neck, and deformity of the elbow (cubitus valgus), occurring in the same individual is unusual and continued, saying that it is sufficiently interesting to warrant this report These are the first words describing the genetic syndrome that today bears his name. Turner syndrome is now recognized in 1 of 2,000 live-born phenotypic girls and may be present in 1 of 15 spontaneous abortions. It is a form of mild skeletal dysplasia with short stature its primary manifestation and several other associated defects, a number of them secondary to in utero deformations, and an endocrine disorder, consisting mainly of sexual infantilism caused by premature ovarian failure. All girls with Turner syndrome have an abnormal sex-chromosomal constitution that ranges from simple monosomy of the X chromosome (45,X karyotype) to complex cytogenetic aberrations involving the XX chromosomal pair (46.XX karyotype with deletions, translocations, inversions, and/or ring formations of the X chromosomic material). To date, the molecular genetics of the syndrome have not been elucidated, despite recent advances such as the cloning of the sex-determining gene SRY and its counterparts on chromosome X, SOX-genes. The phenotype of Turner syndrome is the result of a complex interaction of the in utero and post natal expression of a number of genes located on the X chromosome responsible for sex-determination and function, final height, skeletal maturation, and development of other structures of mesenchymal origin. In this review, we discuss Turner syndrome from the aspect of the clinician geneticist, endocrinologist, and general practitioner. (C) Lippincott-Raven Publishers.

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