Elite Sher

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Determination of the plasma concentration of testosterone (T) is important in evaluating infants born with ambiguous genitalia and micropenis, and several commercially available kits provide a direct assay of T in unextracted plasma. Using plasma samples obtained from 36 subjects < 6 months old, we compared the concentration of plasma T measured by RIA(More)
During the 10-year period from 1979 to 1988 we evaluated 60 boys who were more than 9 years old and who had significant breast development (greater than 4 cm in diameter) around the time of puberty. An endocrine abnormality was identified in seven subjects. The pathology included Klinefelter's syndrome; 46,XX maleness; primary testicular failure; partial(More)
We have reported a kindred in which 46,XY gonadal dysgenesis was inherited in an X-linked (or autosomal dominant sex-limited) manner and in which affected subjects did not have a large duplication of the short arm of the X-chromosome. In the present study we used linkage and sequence analyses to test the role of X-linked and various autosomal genes in the(More)
We studied 2 subjects with a 45,X/46,X,ring(Y) karyotype. Both of them were evaluated because of short stature and a subnormal rate of linear growth. One patient had additional features of the Ullrich-Turner syndrome. Both subjects had normal male external genitalia. Two copies of the pseudoautosomal gene, MIC2, were present in DNA of each individual. All(More)
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