Abstract | BACKGROUND: CASE REPORTS: 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. CONCLUSION: 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 | Reiko Saito, Yukiyo Yamamoto, Motohide Goto, Shunsuke Araki, Kazuyasu Kubo, Rinko Kawagoe, Yasusada Kawada, Koichi Kusuhara, Maki Igarashi, Maki Fukami |
Journal | Hormone research in paediatrics
(Horm Res Paediatr)
Vol. 81
Issue 3
Pg. 211-6
( 2014)
ISSN: 1663-2826 [Electronic] Switzerland |
PMID | 24577144
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
|
Chemical References |
- Estrogen Antagonists
- Receptors, Androgen
- Tamoxifen
|
Topics |
- Adolescent
- Amino Acid Substitution
- Androgen-Insensitivity Syndrome
(drug therapy, genetics, pathology)
- Estrogen Antagonists
(administration & dosage)
- Female
- Gynecomastia
(drug therapy, genetics, pathology)
- Humans
- Male
- Mutation, Missense
- Receptors, Androgen
(genetics)
- Siblings
- Tamoxifen
(administration & dosage)
|