title: [Premature androgenetic alopecia in adult male with nonclassic 21-OH deficiency. A novel nonsense CYP21A2 mutation (Y336X) in 2 affected siblings].
abstract: OBJECTIVE
  Nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency mainly manifests with symptoms and signs of hyperandrogenism, which are usually obvious in women and sometimes obvious in children or adolescents, but are rarely observed in adult men especially with increasing age. Male pattern alopecia is considered an androgenetic and age-related symptom. However, its early appearance should raise the suspicion of an underlying endocrinological disease, and biochemical screening should be done.
  
  
  METHODS
  Here we present the case of 2 siblings (female and male) where the man complains about premature alopecia.
  
  
  RESULTS
  Molecular study of CYP21A2 revealed that both siblings were compound heterozygotes for the mild mutation (V281L) and for a novel nonsense mutation (Y336X).
  
  
  CONCLUSIONS
  Given the high prevalence of carriers with severe mutations, we discuss the risk for such patients of conceiving a child with a classical disease and the need for a reliable molecular diagnosis in order to provide accurate genetic counselling.
authors.affiliation: Servicio de Endocrinología y Laboratorio de Hormonas, Hospital Universitario 12 de Octubre, Madrid, España.
authors.forename: Carmen
authors.initials: C
authors.lastname: Bernal González
authors.forename: Carmen
authors.initials: C
authors.lastname: Fernández Salas
authors.forename: Silvia
authors.initials: S
authors.lastname: Martínez
authors.forename: Begoña
authors.initials: B
authors.lastname: Ezquieta Zubicaray
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000328:Adult; D000505:Alopecia / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D035781:Siblings; D013255:Steroid 21-Hydroxylase / Q000235:genetics*
chemical_list: D013255:Steroid 21-Hydroxylase