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Acta Paediatr Initiation of testicular differentiation 7th week of gestation in the gonadal ridge precedes that of the ovary 10th week.

This is a complex process which takes place with the participation of multiple proteins. In our opinion, this possibility is one element to be taken into account, at the time of sex assignment in a newborn with ambiguous genitalia.

It is necessary for the differentiation of the gonads, adrenals, hypothalamus endocrinologiq pituitary. In a few cases, translocation of the SRY gene to an autosome or to chromosome X has been shown [27].

The firs step brings the testis to the internal inguinal orifice. Danon M, Friedman SC. The genetics, pathophysiology, and management of human deficiencies of Pc In the genital ridge, a common support cell precursor is differentiated into precursor Sertoli cells in the testis and precursor granulosa cells in the ovary.


The DAX-1 gene is located in chromosome Xp Finally, it should always be present that, in some cases, ambiguous genitalia are associated with severe adrenal insufficiency and risk of death. Deficiency of the glucocorticoid receptor [16].

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

Un ejemplo de ello son los pacientes con exceso de dosis de SOX9 [40]. The dihydrotestosterone-steroid receptor complex is bound to DNA as homodimer to activate transcription in the regulatory region of androgen dependent genes. Second, the social and familial context should be evaluated as precisely as possible. Sex determination is defined at the time of fecundation with the formation of an egg with a 46,XY male determinants or 46,XX female determinants chromosomal constitution.

El cariotipo puede ser 46,XX o 46,XY. This enzyme catalyzes the reduction of testosterone to dihydrotestosterone DHT in peripheral target organs, such as external genitalia and prostate.

The AR gene is located in the X chromosome [17]. The appropriate management of parents and other relatives anxiety and suffering is the first question to be faced by the clinician. A second step in diagnosis is to classify the patient in one of the subgroups secondary diagnostic approximation.

The SRY gene, located in the short arm of chromosome Y plays a central role in testicular differentiation. Finalmente, no debe olvidarse que, en algunos casos, los genitales ambiguos se asocian a una insuficiencia suprarrenal severa que pone en peligro la vida del paciente. Klinifelter syndrome, 47,XXY or variants [41]. As an exception, in the case of classical CAH, diagnosis can be made with acceptable degree of certainty with clinical examination and hormonal assays without a karyotype.


J Clin Endocrinol Metab. Internal genital duct differentiation. Internal genitalia uterus and fallopian tubes are feminine. Ambiguous genitalia, micropenis, hypospadias, and cryptorchidism.

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

The style and design look great though! However, it has to be stressed that, in most cases of 46,XY testicular dysgenesis, etiology remains unknown. A perfect mixture of comedy and drama, South Pacific raised the bar for musicals everywhere and has since developed into just about the most watched and revived Broadway productions.

These girls frequently have severe dehydration during the first weeks of life. In girls, post natal transient activation of gonadotropins has also been described.