BACKGROUND: 17α-hydroxlyase/17, 20-lyase deficiency (17OHD) is a rare phenotype of congenital adrenal hyperplasia that can cause primary amenorrhea. CASE: Three phenotypically female siblings visited the adolescent gynecologic clinic complaining of primary amenorrhea and absence of secondary sexual developments. All had constant high blood pressure and showed a hypergonadotropic hypogonadal state with high progesterone and low testosterone levels. Two were genotypically females and one was genotypically a male; all were confirmed to have 17OHD, and estrogen replacement, glucocorticoids, and antihypertensive drugs were Prescribed to the patients. SUMMARY AND CONCLUSION: Identifying a 17OHD patient complaining of primary amenorrhea in a gynecologic clinic is important for proper management.
BACKGROUND: 17α-hydroxlyase/17, 20-lyase deficiency (17OHD) is a rare phenotype of congenital adrenal hyperplasia that can cause primary amenorrhea. CASE: Three phenotypically female siblings visited the adolescent gynecologic clinic complaining of primary amenorrhea and absence of secondary sexual developments. All had constant high blood pressure and showed a hypergonadotropic hypogonadal state with high progesterone and low testosterone levels. Two were genotypically females and one was genotypically a male; all were confirmed to have 17OHD, and estrogen replacement, glucocorticoids, and antihypertensive drugs were Prescribed to the patients. SUMMARY AND CONCLUSION: Identifying a 17OHD patient complaining of primary amenorrhea in a gynecologic clinic is important for proper management.
Authors: Giampaolo Papi; Rosa Maria Paragliola; Paola Concolino; Carlo Di Donato; Alfredo Pontecorvi; Salvatore Maria Corsello Journal: Case Rep Endocrinol Date: 2018-04-24