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Pediatrics Adrenal Gland 2ae1d949

Adrenogential syndrome is most commonly caused by?

A
21 a hydroxilase deficiency
B
17 a hydroxilase deficiency
C
3 b hydroxilase deficiency
D
Steroid sulfatase deficiency
High-Yield Explanation
ANSWER: (A) 21 a hydroxilase deficiencyREF: Endocrine Pathology Differential Diagnosis and Molecular Advances edited by Ricardo V. Lloyd page 338REPEAT (***)See APPENDIX-58 for "CONGENITAL ADRENAL HYPERPLASIA"Common medical term%LocusSubstrate(s)Product(s)Mineraloco - rticoidsAndrogens21-hydroxylase CAH90-95%6p21.317OH-progesterone -progesterone -11-deoxycor-tisolDOC||11b-hydroxylaseCAH5%8q21-2211-deoxycortisol - DOC -cortisolcorticosterone||3b-HSD CAHveryrarelpl3pregnenolone -l7OH-pregnenoloneDHEA -progesterone17OH-proges - terone androstenedi - one||17a-hydroxylaseCAHveryrare10q24.3pregnenolone - progesterone - 17OH-pregnenolone-17OH-pregne - nolone17OH-proges - teroneDHEA||lipoid CAH (20,22-desmolase)veryrare8pll.215q23-q24transport of cholesterolcholesterol -into mitochondriapregnenolone||Adrenogenital syndrome:AKA- Congenita] adrenal hyperplasiaTransmitted as autosomal recessive traitExcessive production of adrenal androgensThe adrenogenital syndrome results most commonly from 21-alpha-hydroxylase deficiency with consequent impaired adrenal cortisol synthesis.Adrenogenital syndrome may be inherited (congenital adrenal hyperplasia-CAH) or acquired (adrenal virilism), usually as a result of adrenal tumor

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