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.

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HIPERPLASIA SUPRARRENAL CONGÉNITA | Tratado de endocrinología pediátrica, 4e | McGraw-Hill Medical

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Congenital adrenal hyperplasia due to 11 beta-hydroxylase CYP11B1 deficiency is a rare form of congenital adrenal hyperplasia CAH; see this term characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.

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. Severe virilization is seen in the external genitalia of girls while boys appear normal. Precocious pseudopuberty and hypertension are seen in both sexes.

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There is also a life-long risk for an adrenal crisis. The disease is caused by a mutation in the CYP11B1 gene that is located on chromosome 8 q Steroid 11 beta-hydroxylase deficiency causes decreased cortisol secretion and hypertension due to accumulation of glucocorticoid and mineralocorticoid precursors. Other search option s Alphabetical list. Summary and related texts. Check this box if you wish to receive a copy of your message.

Disease definition Congenital adrenal hyperplasia due to 11 beta-hydroxylase CYP11B1 deficiency is a rare form of congenital adrenal hyperplasia CAH; see this term characterized by glucocorticoid deficiency, hyperandrogenism, hypertension and virilization in females.

Congenital adrenal hyperplasia due to beta-hydroxylase deficiency

InfancyNeonatal ICD Clinical description 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.

Etiology Hipetplasia disease is caused by a hiperolasia in the CYP11B1 gene that is located on chromosome 8 q Genetic counseling The disease follows an autosomal recessive pattern of inheritance.

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Professionals Summary information Russianpdf.

Additional information Further information on this disease Classification s 5 Gene s 1 Clinical signs and symptoms Other website s 2. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 39 Orphan drug s 6.

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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.