Presence of Turner stigmata in a case of dysgenetic male
pseudohermaphroditism with 45,X/46,X+mar karyotype |
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Authors: | H Hashimoto H Maruyama R Koshida N Okuda K Murayama T Katsumi K Watanabe T Sato |
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Institution: | Department of Pediatrics, Kanazawa National Hospital, Japan. |
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Abstract: | Accepted 19 November 1996 A case is reported of dysgenetic male pseudohermaphroditism
(DMPH) having Turner stigmata and 45,X/46,X+mar karyotype. The marker
chromosome of this patient consisted of most if not all of the short
arm, including the sex determining region of the Y chromosome. Although
this karyotype is relatively common in Turner''s syndrome and
occasionally observed in mixed gonadal dysgenesis, DMPH is usually
exemplified by a 46,XY karyotype except for one patient reported with
45,X/46,XY mosaicism. Turner stigmata have not previously been reported
in DMPH. The present patient is an intermediate case between mixed
gonodal dysgenesis and typical DMPH, and this indicates that
45,X/46,X+mar karyotype abnormality can result in a wide range of
phenotype such as DMPH, mixed gonodal dysgenesis and Turner''s syndrome.
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