JAMA · 1964 · 13 citations · 10 references
Life SciencesEndocrinologyGeneticsCytogeneticsHuman GeneticsReproductive GeneticsChromosomal AbnormalitiesDisorders Of Sex DevelopmentGonadal DisordersMosaicismSex Chromosome CytogeneticsTurner Syndrome46, Xy Gonadal DysgenesisDisorders Of Sexual DifferentiationIntersex AnomaliesMosaicism In FemalesSex Chromosome AbnormalitiesSex Chromosome MosaicismTurner Syndrome CytogeneticsTurner Syndrome Genetics
Individuals with gonadal dysgenesis (Turner's syndrome) have been considered pseudofemales because of the presence of only 45 chromosomes with a single X sex chromosome. Male pseudohermaphrodites usually have 46 chromosomes with an XY sex chromosome pattern. The missing sex chromosome in Turner's syndrome may be either an X or a Y. The finding of phenotypic females with an XO/XY chromosomal sex pattern having gonadal dysgenesis and a contralateral testis provides a link between gonadal dysgenesis and male pseudohermaphroditism. The suggestion is made that in many instances patients with Turner's syndrome, particularly those with androgenic manifestations, may well be atypical cases of male pseudohermaphrodit
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A SYNDROME OF INFANTILISM, CONGENITAL WEBBED NECK, AND CUBITUS VALGUS1
HENRY H. TURNER · Endocrinology · 1938 · 1.1K citations
Medicine, Anatomy, Pediatrics +16
Melvin M. Grumbach, Judson J. Van Wyk, Lawson Wilkins · The Journal of Clinical Endocrinology & Metabolism · 1955 · 173 citations