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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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 avrenal genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting. Girls present at birth with ambiguous genitalia and variable levels of virilization.
They have a normal uterus but abnormal vaginal development. The external genitalia in boys are normal. Precocious pseudopuberty, manifesting with various symptoms including accelerated growth addenal and bone maturation, is also present in both sexes. Unlike the salt wasting form of classical 21 OHD CAH, the simple virilizing form has no symptoms of dehydration, but has a glucocorticoid deficiency requiring life-long substitution therapy and carrying a life-long risk of adrenal crisis.
The disease is caused by a mutation in the CYP21A2 gene located on chromosome adrwnal As a result of this mutation, the synthesis of aldosterone is normal while the synthesis of cortisol is abolished.
Congenital adrenal hyperplasia due to beta-hydroxylase deficiency
The adrenal glands are overstimulated and this leads to an overproduction of androgens. 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 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 hpierplasia external genitalia in females, hypocortisolism and precocious pseudopuberty without salt-wasting.
InfancyNeonatal ICD Clinical description Girls present at birth with ambiguous genitalia and variable levels of virilization. Genetic counseling The disease follows an autosomal recessive pattern of adrena.
Detailed information Article for general public Svenska Professionals Summary information Russian Polskipdf Clinical genetics review English Additional information Further information on this disease Classification s 6 Gene s 1 Other website s 2. Health care resources for this disease Expert centres Diagnostic tests Patient organisations 40 Orphan drug s 7.
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