Snapshot An 8-month-old female presents with ambigous genitalia. Her urinary ketosteroids and 17-OH progesterone are twice the normal level. Additionally, testosterone levels are four times normal and urinary 17-hydroxycorticosteroids are decreased. Her brother had a similar disorder. Introduction A condition characterized by ambiguous genitalia in female There is a non-classical from of this condition that may present in adolesence or adulthood with signs of hypertestosteronism login to view 1 more bullet Epidemiology 1:15,000 children born with disorder Can affect both males and females Presentation Symptoms login to view 16 more bullets Physical exam login to view 17 more bullets IMAGING X-ray login to view 1 more bullet STUDIES Labs login to view 4 more bullets Urinary 17-hydroxycorticosteroids login to view 2 more bullets Chemistry login to view 1 more bullet EKG login to view 1 more bullet Genetic testing login to view 2 more bullets Differential 11-Hydroxylase deficiency, 17-hydroxylase deficiency Treatment Prevention login to view 2 more bullets Medical management login to view 5 more bullets Surgical management login to view 3 more bullets Complications Shortened adult height, ambiguous genitalia, hypertension, hypoglycemia, smaller vaginal introitus, death via adrenal crisis if untreated, steroid side effects, patients medicated for life, male testicular tumors Prognosis Good to very good in most individuals If untreated, adrenal crisis can lead to death within 1-6 weeks Males usually have normal fertility; females may be abnormal fertility