La hiperplasia adrenal congénita (HAC) provoca una disminución de los niveles de ciertas hormonas en el organismo. Este trastorno puede ser potencialmente. Se presenta el caso de una mujer afectada de un déficit de hidroxilasa en su forma clásica que ha sido controlado desde el período neonatal inmediato.
|Published (Last):||10 January 2010|
|PDF File Size:||8.24 Mb|
|ePub File Size:||10.20 Mb|
|Price:||Free* [*Free Regsitration Required]|
Please enter Password Forgot Username? Se administra durante los primeros meses del embarazo.
Hiperplasia Adrenal Congénita
Additional information Further information on contenita disease Classification s 5 Gene s 1 Clinical signs and symptoms Other website s 2. Si se realiza un seguimiento constante, no se esperan efectos secundarios.
Summary and related texts. Specialised Social Services Eurordis directory. Services on Demand Hiperplasis. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Genetic counseling The disease follows an autosomal recessive ocngenita of inheritance. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. If the disorder is not recognized during the neonatal period, both girls and boys undergo rapid postnatal growth with accelerated growth velocity and accelerated skeletal maturation leading to short stature in adulthood and sexual precocity.
Las opciones de tratamiento incluyen: Health care resources for this disease Expert centres Diagnostic tests Patient organisations 39 Orphan drug s 6. Isr J Med Sci ; Professionals Summary information Russian Polskipdf Clinical genetics review Congenota Disease definition The simple virilizing form of classical congenital adrenal hyperplasia due to hydroxylase deficiency classical 21 OHD CAH; see this term is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.
There was a problem providing the content you requested
Health care resources for this disease Expert centres Diagnostic tests Patient organisations 40 Orphan drug s 7. Severe virilization is seen in the external genitalia of girls while boys appear normal. Sign in via OpenAthens. The disease is caused by a mutation in the CYP21A2 gene located on chromosome 6p Search within a content type, and even narrow to one or more resources. They have a normal uterus but abnormal vaginal development.
You can also find results for a single author or contributor. The simple virilizing form of classical congenital adrenal hyperplasia due to hydroxylase deficiency classical 21 OHD CAH; see this term is characterized by genital ambiguity and virilization of the external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.
HIPERPLASIA SUPRARRENAL CONGÉNITA | Tratado de endocrinología pediátrica, 4e | McGraw-Hill Medical
Pop-up div Successfully Displayed This div only appears when the trigger link is hovered over. The documents contained in this web site are presented for information purposes only.
Accessed December 31, Crystallization and X-ray examination of bovine adrenodoxin. Additional information Further information on this disease Classification s 6 Gene s 1 Conenita website s 2.
Sex reassignment in a girl with beta-hydroxylase deficiency. Tener vello facial o corporal excesivo.
Professionals Summary information Russianpdf. Hipsrplasia a result of this mutation, the synthesis of aldosterone is normal while the synthesis of cortisol is abolished.
Congenital adrenal hyperplasia due to 11 beta-hydroxylase CYP11B1 deficiency is a rare form of congenital adrenal hyperplasia CAH; see hiperplassia term characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females. Girls present at birth with ambiguous genitalia and variable levels of virilization. Indian Pediatr ; For all other comments, please send your remarks via contact us.