Identificador persistente para citar o vincular este elemento: http://hdl.handle.net/10553/50628
Título: Clinical manifestations and hormonal profile of two women with Cushing's disease and mild deficiency of 21-hydroxylase
Autores/as: Boronat, M. 
Carrillo, A.
Ojeda Sosa, Ana Maria 
Estrada, J.
Ezquieta, B.
Marín, F.
Novoa Mogollón, Francisco 
Clasificación UNESCO: 32 Ciencias médicas
320502 Endocrinología
Palabras clave: Pituitary adenoma
21-hydroxylase
Cushing’s disease
Congenital adrenal hyperplasia
Fecha de publicación: 2004
Publicación seriada: Journal of Endocrinological Investigation 
Resumen: The development of Cushing’s disease among patients with deficiency of 21-hy-droxylase has not been observed to date. The clinical manifestations and the hormonal profile of this exceptional association are herein described through the study of two cases. The first one was a 39-yr-old woman who had undergone non-curative transsphenoidal surgery for a pituitary-dependent Cushing’s syndrome 12 yr before. She showed hypertension, central obesity, severe hirsutism, alopecia and hyperpigmentation. Urinary excretion of cortisol was normal, but ACTH levels were very high and hormonal dynamic studies (cortisol circadian rhythm, insulin-induced hypoglycemia and dexamethasone suppression tests) revealed the qualitative disturbances that characterize Cushing’s disease. Serum concen-trations of androstenedione, free testosterone and 17-hydroxyprogesterone were clearly increased. Reexamination of the tissue samples from previous surgery confirmed the presence of an ACTH-producing pituitary adenoma. CYP21 gene analysis found the splicing 655G mutation at intron 2 and the V281L mutation at exon 7. The second case was a 21-yr-old woman who was diagnosed with pituitary ACTH-dependent Cushing’s syndrome according to unequivocal clinical and laboratory findings. However, hirsutism was particularly severe and both serum androgens and 17-hydroxyprogesterone were elevated. The patient was heterozygote for a large conversion of CYP21 gene. In these cases, the clinical and biochemical expression of Cushing’s syndrome was determined by the different severity of 21-hy-droxylase deficiency and the subsequent residual ability of adrenal cortex to synthesize cortisol.
URI: http://hdl.handle.net/10553/50628
ISSN: 0391-4097
DOI: 10.1007/BF03347484
Fuente: Journal of Endocrinological Investigation[ISSN 0391-4097],v. 27, p. 583-590 (Junio 2004)
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