title: Combined 17α-hydroxylase/17,20-lyase deficiency with short stature: case study.
abstract: BACKGROUND
  17α-hydroxylase/17,20-lyase deficiency (17-OHD) is an uncommon form of congenital adrenal hyperplasia. Most patients are tall owing to delayed closure of epiphyses as a result of deficiency of sex hormones.
  
  
  METHODS
  We present a 17-OHD case with unusual short stature and reviewed related literature.
  
  
  RESULTS
  A 17-year-old female patient presented with primary amenorrhea, hypertension, hypokalemia and hypergonadotropic hypogonadism (HH). Sequencing of the CYP17A1 gene identified a homozygous c.985_987delTACinsAA in exon 6 that confirmed the diagnosis of 17-OHD. However, her height (148 cm, height standard deviation score [HSDS] -2.28) was unusually low compared with that of other 17-OHD patients. Levels of growth hormone (GH) and insulin-like growth factor (IGF)-1 were normal, and the GH provocation test excluded the possibility of GH deficiency. She underwent glucocorticoid and sex-hormone replacement therapy, reaching a final height of 152 cm (HSDS -1.59). These data suggest that tall stature is not a requisite characteristic of 17-OHD. Further studies are needed to clarify the effects of sex hormone on linear bone growth (LBG) in 17-OHD patients.
authors.affiliation: a Department of Endocrinology and Metabolism , Hangzhou First People's Hospital, Nanjing Medical University , Hangzhou , PR China.
authors.forename: Lizhen
authors.initials: L
authors.lastname: Ma
authors.affiliation: a Department of Endocrinology and Metabolism , Hangzhou First People's Hospital, Nanjing Medical University , Hangzhou , PR China.
authors.forename: Fengying
authors.initials: F
authors.lastname: Peng
authors.affiliation: a Department of Endocrinology and Metabolism , Hangzhou First People's Hospital, Nanjing Medical University , Hangzhou , PR China.
authors.forename: Lingying
authors.initials: L
authors.lastname: Yu
authors.affiliation: a Department of Endocrinology and Metabolism , Hangzhou First People's Hospital, Nanjing Medical University , Hangzhou , PR China.
authors.forename: Jun
authors.initials: J
authors.lastname: Chen
authors.affiliation: a Department of Endocrinology and Metabolism , Hangzhou First People's Hospital, Nanjing Medical University , Hangzhou , PR China.
authors.forename: Weiqin
authors.initials: W
authors.lastname: Ji
authors.affiliation: a Department of Endocrinology and Metabolism , Hangzhou First People's Hospital, Nanjing Medical University , Hangzhou , PR China.
authors.forename: Chu
authors.initials: C
authors.lastname: Zhang
authors.affiliation: a Department of Endocrinology and Metabolism , Hangzhou First People's Hospital, Nanjing Medical University , Hangzhou , PR China.
authors.forename: Xianfeng
authors.initials: X
authors.lastname: Zhang
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics / Q000503:physiopathology*; D000568:Amenorrhea / Q000151:congenital* / Q000235:genetics; D001827:Body Height; D005260:Female; D006801:Humans; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
chemical_list: C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase
keywords: 17α-hydroxylase/17,20-lyase deficiency; congenital adrenal hyperplasia; estrogen; linear bone growth; short stature