Abstract
This correspondence deals with the lapses of information that seem to be frequent in published case reports from a variety of journals. This fuzzy reporting pattern seems to be more frequent in the area of human sex reversal syndromes. It is not possible to list or cite all the suspects, but Dr. Edmonds, one of the correspondents, is reacting to the shortage of details and misconceptions concerning the fundamental developmental miscue in 46,XY Swyer syndrome. The kneejerk assumption in the case report from Selvaraj et al. (1) is that this patient has 46,XY pure gonadal dysgenesis or Swyer syndrome. Usually Swyer syndrome patients are normal or more frequently tall in stature, without somatic anomalies, and have a normal uterus with bilateral rudimentary streak gonads. One or both rudimentary streak gonads may be replaced by calcific degeneration or frank dysgenetic tumors of the dysgerminoma, gonadoblastoma family. The DNA of some patients (10% to 15%) with Swyer syndrome have inactivating mutations in the sex-determining region-Y gene (SRY), whereas the precise explanation for the others is still unknown. Lately, Swyer syndrome has become the first diagnosis that comes to mind in a phenotypic female with elevated gonadotropins and a 46,XY karyotype. However, before rushing to judgment one should record the precise height of the patient. In a population of 45,X/46,XY individuals, one would find that the mean height and variability of the heights about the mean are considerability less than in a population of non-mosaic 46,XY individuals with Swyer syndrome. Unlike patients with Swyer syndrome, patients with a cryptic 45,X cell line (45,X/46,XY) are at increased risk for the spectrum of cardiovascular anomalies seen in classic 45,X gonadal dysgenesis. Gestational motherhood for such individuals is a high-risk situation and should be carefully weighed against the risks of aortic dissection with rupture (2). Classifying the patient of Dr. Selvaraj is difficult because of some basic omissions in the reporting of the physical examination, laboratory data, and inconsistencies in the surgical findings (1). This case report is a good example of the need for reviewers who insist on more precise details from authors.
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