title: Tamoxifen treatment for pubertal gynecomastia in two siblings with partial androgen insensitivity syndrome.
abstract: BACKGROUND
  Although tamoxifen has been shown to be fairly safe and effective for idiopathic pubertal gynecomastia, it remains unknown whether it is also beneficial for gynecomastia associated with endocrine disorders. Here, we report the effect of tamoxifen on pubertal gynecomastia in 2 siblings with partial androgen insensitivity syndrome (PAIS).
  
  
  METHODS
  Cases 1 and 2 presented with persistent pubertal gynecomastia at 13 and 16 years of age, respectively. Physical examinations revealed breast of Tanner stage 3 and normal male-type external genitalia in both cases. Clinical features such as female-type pubic hair and borderline small testis indicated mildly impaired masculinization.
  
  
  RESULTS
  Molecular analysis identified a previously reported p.Arg789Ser mutation in the androgen receptor gene (AR) in the 2 cases. Two months of oral administration of tamoxifen ameliorated gynecomastia to Tanner stage 2 with no adverse events. Additional treatment with testosterone enanthate showed negligible effects on body hair and penile length. Hormone values of the 2 cases during tamoxifen treatment remained similar to those in previously reported untreated patients with PAIS.
  
  
  CONCLUSIONS
  The results indicate that tamoxifen was effective in treating pubertal gynecomastia in these 2 patients with PAIS and may be considered as a therapeutic option in this situation pending further studies.
authors.affiliation: Department of Pediatrics, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.
authors.forename: Reiko
authors.initials: R
authors.lastname: Saito
authors.forename: Yukiyo
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: Motohide
authors.initials: M
authors.lastname: Goto
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Araki
authors.forename: Kazuyasu
authors.initials: K
authors.lastname: Kubo
authors.forename: Rinko
authors.initials: R
authors.lastname: Kawagoe
authors.forename: Yasusada
authors.initials: Y
authors.lastname: Kawada
authors.forename: Koichi
authors.initials: K
authors.lastname: Kusuhara
authors.forename: Maki
authors.initials: M
authors.lastname: Igarashi
authors.forename: Maki
authors.initials: M
authors.lastname: Fukami
mesh_terms: D000293:Adolescent; D019943:Amino Acid Substitution; D013734:Androgen-Insensitivity Syndrome / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D004965:Estrogen Antagonists / Q000008:administration & dosage*; D005260:Female; D006177:Gynecomastia / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D011944:Receptors, Androgen / Q000235:genetics*; D035781:Siblings; D013629:Tamoxifen / Q000008:administration & dosage*
chemical_list: D004965:Estrogen Antagonists; D011944:Receptors, Androgen; D013629:Tamoxifen