Turner syndrome is the most common sex chromosome abnormality in women. Infertility and short stature are the most striking findings seen in these patients. Unfortunately, many girls are still being diagnosed too late and therefore early diagnosis and treatment key. Turner syndrome affects many systems of the body; therefore, a comprehensive approach is key for therapeutic intervention.
Key points
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Turner syndrome is the most common sex chromosome abnormality in women.
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Girls with Turner Syndrome almost all have short stature.
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Growth hormone is an effective treatment of girls with Turner syndrome.
The diagnosis of Turner syndrome is sometimes made at birth in the patient with classic physical features such as webbed neck and congenital lymphedema. Other patients are diagnosed later, when they present with either growth failure in childhood, failure to enter or complete puberty, or early ovarian failure.
Introduction
It has been more than 80 years since Henry Turner, an internist, reported in 1938 the clinical characteristics of the 7 patients whose phenotype now bears his name [
]. These women had short stature in association with sexual infantilism, webbing of the neck, low posterior hairline, and increased carrying angle of the elbows (cubitus valgus). In 1930, Ullrich described an 8-year-old girl with short stature; lymphedema of the neck, hands, and feet; subsequent neck webbing, cubitus valgus, and other phenotypic abnormalities (including a high arched palate, ptosis, low-set auricles, and small upwardly curved nails); and several other features that are now associated with Turner syndrome. This gave rise to the less common, but more appropriate eponym Ullrich–Turner syndrome.
Ullrich later recognized that his patients and those of Turner seemed to have the same condition [
]. He also called attention to the work of Bonnevie, who described a group of congenital anomalies in mice consisting of the distention of the neck and malformations of the ears, face, and limb buds-all secondary to the dissection of the subcutaneous tissues by fluid. This “bleb” mechanism for producing multiple anomalies was suggested by Ullrich as being responsible for the cervical lymphangiectasia noted in some human female abortuses that seemed to produce a scarred webbed neck (pterygium colli). Ullrich proposed the eponym status Bonnevie-Ullrich to describe the set of specific anomalies arising from a single mechanism (lymphangiectasia) and resulting in the phenotype of Turner syndrome.
The links among these phenotypic descriptions, the pathologic evidence of streak ovaries, and the abnormal X chromosomes came with the introduction of the technique for sex chromatin identification by Barr and the demonstration that most patients with Turner syndrome lacked sex chromatin material [
]. Initially, this absence of sex chromatin (or lack of a Barr body) was associated with “maleness” because a similar pattern was found in normal phenotypic men. Only after it was demonstrated that it was the second X chromosome that in the inactivated state constituted the Barr body was it clear that the 45,X karyotype would result in a chromatin pattern similar to the normal 46,XY karyotype.
It was not until 1961 that techniques became available for the analysis of the chromosomal constitution and the sex chromosome constitution was shown in a 14-year-old phenotypic female with Turner syndrome to be, indeed, 45,X 4 . Thus, patients with Turner syndrome were not XY males, but in most cases 45,X females. The original patient of Ullrich was studied in the 1960s and found to have a 45,X karyotype (D. Knorr, personal communication to the author). One of the original 7 patients Turner described was also reinvestigated and found to have a 45, X chromosomal karyotype [
].
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