![]() ![]() Isolated mineralocorticoid deficiency can also be considered a milder phenotypic presentation. However, a less severe phenotype termed late-onset AHC has been described, as PAI signs and symptoms may begin later in adolescence and/or adulthood. Classically, AHC with complete loss-of-function NR0B1 mutations is characterized by early-onset PAI, with symptoms in the first months of life. ![]() This gene is highly expressed in the developing urogenital ridge, pituitary, hypothalamus, gonads and adrenal cortex. ![]() This rare condition is caused by a mutation in the DAX-1gene (dosage-sensitive sex reversal-AHC critical region on the X-chromosome 1), also called the Nuclear Receptor Subfamily 0 Group B Member ( NR0B1 gene). Adrenal hypoplasia congenita (AHC) is an X-linked disorder that affects the adrenal cortex permanent zones and hypothalamus-pituitary-gonadal (HPG) axis, leading to primary adrenocortical insufficiency (PAI) and hypogonadotropic hypogonadism (HH). ![]()
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