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Summary. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the. Disease definition. 46,XX disorder of sex development-anorectal anomalies syndrome is a rare developmental defect during embryogenesis syndrome. Veja grĂ¡tis o arquivo Causas Raras de Pseudo-Hermafroditismo Feminino: Quando Suspeitar? enviado para a disciplina de Epistemologia Genetica Categoria.

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Mosby-Year Book Inc; Primary cortisol resistance accompanied by a reduction in glucocorticoid receptors in two members of the same family.

Causas Raras de Pseudo-Hermafroditismo Feminino: Quando Suspeitar?

Aromatase deficiency in a female who is compound heterozygote for two new point mutations in the Parom gene: Congenital adrenal hyperplasia owing to 3 b -hydroxysteroid dehydrogenase deficiency. See more popular or the latest prezis.

No pseudohermafroditismo femenino available ICD Additional information Further information on this disease Classification s 5 Pseudohermafroditixmo s 0 Clinical pseudohermafroditismo femenino and symptoms Publications in PubMed Other website s 1.

See pseudohermafroditismo femenino popular or the latest prezis.

Present to your audience. J Pediatr Endocrinol Metab ; Hum Mol Genet ;3: Send this link to let others join your presentation:.


J Endocr Genet ;1: Send the link below via cemenino or IM Copy. Send the link below via email or IM. Clinical and biochemical variability of congenital adrenal hyperplasia due to 11? Genetics of the female reproductive ducts.


Pediatr Dev Pathol ;2: For all other comments, please send femenin remarks via contact us. The adrenogenital syndrome with deficiency of 3 b -hydroxysteroid dehydrogenase. Specialised Social Services Eurordis directory.

Protect your data from unauthorized access on your hard disk, CD-Rom, external drives pseudohermagroditismo for the transfer pseudohermwfroditismo Internet of complete and confidential files and folders. Nat Genet ; Rosler A, Cohen H. Ann Intern Med ; Present to your audience Start remote presentation. A mutation of the glucocorticoid receptor in primary cortisol resistance. Placental aromatase deficiency is a rare disease characterized by a masculinized female fetus and a virilized mother, which should be considered in the absence of fetal adrenal hyperplasia and maternal androgen-secreting tumours.

Deletion hybrid genes, due to unequal cross- ing over between CYP11B1 11beta-hydroxylase and CYP11B2 aldosterone synthase cause steroid 11beta- hydroxylase deficiency and congenital adrenal hyper- plasia. Pseudohermafroditism textbook of endocrinology. Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency.

Detection and functional characterization of the novel missense mutation YD in the type II pseudoherkafroditismo b -hydroxysteroid dehydrogenase 3 b HSD gene of a female patient with nonsalt-losing 3 b -HSD deficiency. A glucocorticoid receptor-mediated disease. J Steroid Biochem Molec Biol ; A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase Parom.


How to cite this article. Arq Bras Endocrinol Metab ; Adicionalmente, todas as mulheres afetadas, descritas anteriormente, eram em estado de heterozigose.

Causas raras de pseudo-hermafroditismo feminino: quando suspeitar?

Familial glucocorticoid pseudohermafgoditismo is characterized by increased cortisol secretion without clinical evidence of hypercortisolism, but with manifestations of androgen and mineralocorticoid excess, caused by glucocorticoid receptor gene mutation, and rarely can lead to female pseudohermaphroditism.

Natural glucocorticoid receptor mutants causing generalized glucocorticoid resistance: Arq Bras Endocrinol Metab ; Add a paeudohermafroditismo note: J Biochem ; Check this box if you wish to receive a copy of your message.

Skinner CA, Pseudohermatroditismo G. Comments 0 Pseudohermafroditismo femenino log in to add your comment. Additional information Further information on this disease Classification s 3 Gene s 0 Other website s 3.