Definition

3-Beta-hydroxysteroid dehydrogenase deficiency (3B HSD) is a very rare disorder of the genes involving steroid biosynthesis. This deficiency results into the decrease on the production of adrenal steroid groups which are inclusive of glucocorticoids, mineralocorticoids, and the sex steroids. A decrease on the secretion of mineralocorticoid would result into various salt wasting degrees in males and females. And for the 46 XY males, a deficiency in androgen would result into ambiguous genitals (the females are seen with enlarged clitoris).

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