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Compendio de Robbins y Cotran. Patología Estructural y Funcional – 9 Edicion

It is a ligand-dependent transcription factor binding dihydrotestosterone with greater affinity than testosterone. The SRY gene, located in the short arm of chromosome Y plays a central desxargar in testicular differentiation.

This condition is also named dysgenetic male pseudohermaphroditism or XY sex reversal in extreme cases.

The firs step brings the testis to the internal inguinal orifice. Nat Genet The most important subgroups of patients with ambiguous genitalia are the following: J Clin Endocrinol Metab. A second step in diagnosis is to classify the patient in one of the subgroups secondary diagnostic approximation.

The corresponding protein has aa with the characteristics of a steroid dkrantes receptor.

Compendio de Robbins y Cotran. Patología Estructural y Funcional – 9 Edicion – Libros Medicina

Mixed gonadal dysgenesis or asymmetric gonadal differentiation [32]. Initiation of testicular differentiation 7th week of gestation in the gonadal ridge precedes that of the ovary 10th week.


However, there are direct evidences in experimental animals and indirect evidences in humans that pre-natal hormones androgens may act on fetal brain programming sex conduct in future descrgar. Data in experimental animals and indirect information collected from patients with abnormalities of sexual differentiation suggest that this programming is possible.

J Clin Endocrinol Metab Fisiopatologia Compendio de Robbins y Cotran. This approximation is frequently more complex, and it requires more time and additional studies not always available at the time of sex assignment. Med Sci Monit 7: The SOX9 gene is located in chromosome 17q24, it has bp and transcribes a mature protein transcription factor of aa. It has 8 exons.

Frequently, the newborn is referred to Hospital or Health Center of high complexity. Attitudes of adult 46, XY intersex persons to clinical management policies.

As an exception, in the case of classical CAH, diagnosis can be made with acceptable degree of certainty with clinical examination and hormonal assays enfocrinologia a karyotype. We are not in favour of postponing sex assignment until late adolescence. Deficiencia del receptor de glucocorticoides [16].

Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. Moreover, an excessive dose of the signaling molecule WNT-4 has been detected in some patients with dysgenetic male pseudohermaphroditism. Molecular analysis in true hermaphroditism: Gonadal atresia with female external genitalia.


Exceptionally, isolated deficiency of AMH or its receptor results in persistence of uterus and fallopian tubes with normal male external genitalia. Este proceso puede dividirse en dos etapas: The mechanisms of differentiation of non-germ cells in the embryonic testis are shown in Figure 2.

N Engl J Med Furthermore, deficiency of SF-1, a factor which regulates the expression of multiple genes necessary for sexual differentiation, has been found in dysgenetic male pseudohermaphroditism [35]. Finally, it should always be present that, in some cases, ambiguous genitalia are associated with severe adrenal insufficiency and risk of death. Fetal Leydig cells secrete testosterone, necessary to differentiate gonadal ducts and external genitalia, and Insl-3 insulin-like 3 which participates in testicular descent.

Deficiency of the androgen receptor AR. Inactivating mutations of SRY gene have been found in a few patients [33]. Endocrinolofia view of the complexity of the problem and the consequences of the announcement, the doctor should be very cautious and, in the majority of cases it is necessary to request some waiting period to complete diagnostic studies, before sex assignment. Un ejemplo de ello son los pacientes con exceso de dosis de SOX9 [40].

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