Clinical and endocrine spectrum in patients with the 45,X/46,XY karyotype

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Abstract
Cytogenetic and endocrine studies were performed in five unrelated 45,X/46,XY individuals in an attempt to correlate them with their clinical expression and gonadal morphology. A lack of a consistent pattern between cytogenetic findings and phenotype was observed. Endocrine studies revealed a wide spectrum of hypothalamic, pituitary, and gonadal hormone production as assessed by the base line levels of LH, FSH, T, and Δ4-A and their responses to appropriate exogenous stimulation (LH-RH and HCG). An adequate correlation between endocrine findings with gonadal morphology and phenotype could be established; thus demonstrating that patients with this particular chromosome complement have a functional integrity of the gonadotropin hypothalamic pituitary activity modulated accordingly with the gonadal function of each particular case.