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Pathology Endocrine 72e06faa

DAX 1 gene Mutation is associated with

A
Cushing's disease
B
Hashimoto's disease
C
Congenital adrenal hypoplaisa
D
Addison's disease
High-Yield Explanation
Ans. C. Congenital adrenal hypoplasiaExplanationDAX1 mutation is seen in congenital adrenal hypoplasia.DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein encoded by the NROBlgene.DAX1 plays an important role in the normal development of several hormone-producing tissues.The adrenal glands,The pituitary gland andHypothalamusThe testes and ovariesMutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism

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