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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 delta 4-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.
S Kofman, and
G Pérez-Palacios, and
M Medina, and
N Escobar, and
M García, and
L Ruz, and
O Mutchinick, and
R Lisker
March 2012,
European journal of pediatrics,
S Kofman, and
G Pérez-Palacios, and
M Medina, and
N Escobar, and
M García, and
L Ruz, and
O Mutchinick, and
R Lisker
November 1970,
Annals of internal medicine,
S Kofman, and
G Pérez-Palacios, and
M Medina, and
N Escobar, and
M García, and
L Ruz, and
O Mutchinick, and
R Lisker
January 2009,
Genetic counseling (Geneva, Switzerland),
S Kofman, and
G Pérez-Palacios, and
M Medina, and
N Escobar, and
M García, and
L Ruz, and
O Mutchinick, and
R Lisker
July 1987,
American journal of medical genetics,
S Kofman, and
G Pérez-Palacios, and
M Medina, and
N Escobar, and
M García, and
L Ruz, and
O Mutchinick, and
R Lisker
January 2008,
Clinical and experimental obstetrics & gynecology,
S Kofman, and
G Pérez-Palacios, and
M Medina, and
N Escobar, and
M García, and
L Ruz, and
O Mutchinick, and
R Lisker
January 2012,
TSitologiia i genetika,
S Kofman, and
G Pérez-Palacios, and
M Medina, and
N Escobar, and
M García, and
L Ruz, and
O Mutchinick, and
R Lisker
January 2010,
Hormone research in paediatrics,
S Kofman, and
G Pérez-Palacios, and
M Medina, and
N Escobar, and
M García, and
L Ruz, and
O Mutchinick, and
R Lisker
April 1984,
Clinical genetics,
S Kofman, and
G Pérez-Palacios, and
M Medina, and
N Escobar, and
M García, and
L Ruz, and
O Mutchinick, and
R Lisker
October 2012,
Nan fang yi ke da xue xue bao = Journal of Southern Medical University,
S Kofman, and
G Pérez-Palacios, and
M Medina, and
N Escobar, and
M García, and
L Ruz, and
O Mutchinick, and
R Lisker
January 2003,
Annales de genetique,
