A female child presents with hypertension, hyperpigmentation and virilization, she is most likely to be suffering from deficiency of?
ANSWER: (A) 11 beta hydroxylase deficiencyREF: Nelson's 18th ed p. 2366See APPENDIX-58 below for details of "Congenital adrenal hyperplasia" APPENDIX - 58Congenital Adrenal HyperplasiaCAH is very frequently asked in pre PG examinations with different case scenarios. There is a simple way to remember the symptomatology and reach to the conclusion of the deficient enzyme.Enzyme deficientAldosteroneTestosterone11 (if 1 is to increase, 11 is to both testosterone and aldosterone increases)| (salt retention, hypertension)|Precocious puberty in malesAmbiguous genitalia in females17 (1 is to increase so only aldosterone increases)| (salt retention, hypertension)|Ambiguous genitalia in malesPrecocious puberty in females21 & 3 (1 is to increase so only testosterone increases)| (salt wasting, hypotension)|Precocious puberty in malesAmbiguous genitalia in femalesLipoid| (salt wasting, hypotension)|Ambiguous genitalia in malesPrecocious puberty in femalesSymptoms as per the increase or decrease of aldosterone and testosterone will be:f Aldosterone = salt retention & hypertension (irrespective of the gender)I Aldosterone = salt wasting & hypotension (irrespective of gender)t Testosterone = Ambiguous genitalia in females, precocious puberty in malesI Testosterone = Ambiguous genitalia in males, precocious puberty in females
11 beta hydroxylase deficiency
21 alpha hydroxylase
17 alpha hydroxylase
3 beta hydroxylase
Genetic Approach to Pediatric Medicine