title: Refractory acne and 21-hydroxylase deficiency in a selected group of female patients.
abstract: BACKGROUND
  Excessive androgen production, suspected in women when acne is accompanied by hirsutism and menstrual irregularities, may be due to congenital adrenal hyperplasia. This inherited disorder of cortisol biosynthesis is caused in more than 90-95% of all cases by 21-hydroxylase deficiency (21-OHD). The steroid 21-hydroxylase gene (CYP21) has a high degree of variability.
  
  
  OBJECTIVE
  This study was conducted to evaluate CYP21 gene mutations in a selected group of women with papulopustular and comedonal acne refractory to treatment, irregular menses and hirsutism.
  
  
  METHODS
  30 out of 61 women enrolled underwent pelvic ultrasound examination and hormonal screening. In 9 patients with a polycystic ovary and hormonal pattern of adrenal hyperandrogenism a significant elevation of adrenocorticotropic hormone (ACTH) stimulated 17-hydroxyprogesterone was detected. These women positive in the ACTH stimulation test were submitted to CYP21 gene analysis.
  
  
  RESULTS
  Genetic testing revealed several different point mutations and demonstrated that a cohort of patients resistant to acne therapy can be carriers or affected by non-classical 21-OHD (late onset).
  
  
  CONCLUSIONS
  Persistent acne can be the unique presenting sign of non-classical 21-OHD. Evaluation of CYP21 gene mutations may identify female carriers or patients for genetic counselling.
authors.affiliation: Department of Dermatology, University of Palermo, Palermo, Italy. fiorellasanti@tim.it
authors.forename: Valentina
authors.initials: V
authors.lastname: Caputo
authors.forename: Santi
authors.initials: S
authors.lastname: Fiorella
authors.forename: Salvatrice
authors.initials: S
authors.lastname: Curiale
authors.forename: Alfredo
authors.initials: A
authors.lastname: Caputo
authors.forename: Marcello
authors.initials: M
authors.lastname: Niceta
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000152:Acne Vulgaris / Q000188:drug therapy* / Q000235:genetics*; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics; D000328:Adult; D004351:Drug Resistance / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017588:Hyperandrogenism / Q000235:genetics; D017354:Point Mutation; D011085:Polycystic Ovary Syndrome / Q000235:genetics; D013255:Steroid 21-Hydroxylase / Q000235:genetics*; D055815:Young Adult
chemical_list: D019326:17-alpha-Hydroxyprogesterone; D013255:Steroid 21-Hydroxylase