Abstract
To the Editor.— Turner's syndrome with normal XX karyotype has been reported in the literature in a few patients only. 1 We wish to report a unique case of gonadal dysgenesis with a normal XX karyotype (sex-chromatin positive; chromosome studies of leukocyte culture and skin biopsy suggested a normal XX female karyotype). The patient presented the stigmata of a Turner phenotype associated with a solitary pelvic kidney. Our patient is a 17-year-old girl presenting, in addition to most of the usual stigmata of Turner phenotype (gonadal dysgenesis, short stature, webbed neck, shield chest, Kosowicz's sign), the following unusual associated abnormalities: complete absence of vagina and uterus, solitary pelvic kidney, hypoplasia of the entire right arm with alteration of the thumb joints, Klippel-Feil syndrome associated with webbing of the neck, and cervical ribs. The solitary pelvic kidney visualized by an intravenous pyeogram, was confirmed by radioisotopic scanning and perineoscopy which revealed
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More From: JAMA: The Journal of the American Medical Association
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