title: 17α-hydroxlyase/17, 20-lyase deficiency in three siblings with primary amenorrhea and absence of secondary sexual development.
abstract: BACKGROUND
  17α-hydroxlyase/17, 20-lyase deficiency (17OHD) is a rare phenotype of congenital adrenal hyperplasia that can cause primary amenorrhea.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  Identifying a 17OHD patient complaining of primary amenorrhea in a gynecologic clinic is important for proper management.
authors: Department of Obstetrics and Gynecology, Samsung Medical Center, Seoul, Korea.
authors: Y K
authors: YK
authors: Oh
authors: U
authors: U
authors: Ryoo
authors: D
authors: D
authors: Kim
authors: S Y
authors: SY
authors: Cho
authors: D K
authors: DK
authors: Jin
authors: B K
authors: BK
authors: Yoon
authors: D Y
authors: DY
authors: Lee
authors: D
authors: D
authors: Choi
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000568:Amenorrhea / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008190:Lyases / Q000235:genetics*; D010641:Phenotype; D046468:Sexual Development / Q000235:genetics; D035781:Siblings; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
chemical_list: D013254:Steroid 17-alpha-Hydroxylase; D008190:Lyases