Cortisone reductase deficiency
Overview
An inborn error of steroid metabolism due to a deficiency of an enzyme called cortisone reductase (11@beta-hydroxysteroid dehydrogenase). This enzyme is needed to convert cortisone to cortisol.
Symptoms
* High level of tetrahydrocortisone in urine * Premature puberty in males * Accelerated bone age * Enlarged adrenal glands * Oligomenorrhea in females
Diagnosis
Cortisone reductase deficiency signs may often refer to those signs that are only noticable by a doctor: * High level of tetrahydrocortisone in urine * Premature puberty in males * Accelerated bone age * Enlarged adrenal glands * Oligomenorrhea in females * Excessive body hair in females * Acne in females * Abdominal obesity * Excessive androgen production