Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations

2005 ◽  
Vol 83 (12) ◽  
pp. 1005-1013 ◽  
Author(s):  
P. M. Holterhus ◽  
R. Werner ◽  
U. Hoppe ◽  
J. Bassler ◽  
E. Korsch ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Gene Mutations ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Clinical Phenotypes ◽  
Molecular Features

scholarly journals Five novel androgen receptor gene mutations associated with complete androgen insensitivity syndrome

2006 ◽  
Vol 27 (3) ◽  
pp. 291-291 ◽  
Author(s):  
Jarmo Jääskeläinen ◽  
Nigel P. Mongan ◽  
Sharon Harland ◽  
Ieuan A. Hughes
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Gene Mutations ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Novel androgen receptor gene mutations in Australian patients with complete androgen insensitivity syndrome

2004 ◽  
Vol 23 (3) ◽  
pp. 287-287 ◽  
Author(s):  
Helen E. MacLean ◽  
Emma M.A. Ball ◽  
Georgia Rekaris ◽  
Garry L. Warne ◽  
Jeffrey D. Zajac
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Gene Mutations ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Complete Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Three novel and two known androgen receptor gene mutations associated with androgen insensitivity syndrome in sex-reversed XY female patients

2016 ◽  
Vol 95 (4) ◽  
pp. 911-921 ◽  
Author(s):  
BALACHANDRAN SARANYA ◽  
GUNASEKARAN BHAVANI ◽  
BRINDHA ARUMUGAM ◽  
MEENA JAYASHANKAR ◽  
SATHIYAVEDU THYAGARAJAN SANTHIYA
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Gene Mutations ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Female Patients ◽  
Xy Female

Androgen receptor gene mutations identified by SSCP in fourteen subjects with androgen insensitivity syndrome

1992 ◽  
Vol 1 (7) ◽  
pp. 497-503 ◽  
Author(s):  
J. A. Batch ◽  
D. M. Williams ◽  
H. R. Davies ◽  
B. D. Brown ◽  
B. A. J. Evans ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Gene Mutations ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity

Prenatal prediction of androgen insensitivity syndrome using exon 1 polymorphism of the androgen receptor gene

1992 ◽  
Vol 43 (7) ◽  
pp. 659-663 ◽  
Author(s):  
Jean Marc Lobaccaro ◽  
Serge Lumbroso ◽  
Françoise Carré Pigeon ◽  
Jean-Louis Chaussain ◽  
Jean-Edmond Toublanc ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Exon 1

scholarly journals Partial androgen insensitivity syndrome presenting as pubertal gynecomastia: clinical and hormonal findings and a novel mutation in the androgen receptor gene

2018 ◽  
Vol 2018 ◽  
Author(s):  
Priya Vaidyanathan ◽  
Paul Kaplowitz
Keyword(s):  
Androgen Receptor ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
List Type ◽  
Androgen Insensitivity ◽  
Estrogen Production ◽  
Partial Androgen Insensitivity Syndrome ◽  
Pubertal Gynecomastia

Summary Pubertal gynecomastia is common, can be seen in 65% of the adolescent boys and is considered physiological. It is thought to be due to transient imbalance between the ratio of testosterone and estradiol in the early stages of puberty. It resolves in 1–2 years and requires no treatment. However, more persistent and severe pubertal gynecomastia is less common and can be associated with pathological disorders. These can be due to diminished androgen production, increased estrogen production or androgen resistance. We report a case of persistent pubertal gynecomastia due to partial androgen insensitivity syndrome (PAIS), classical hormone findings and a novel mutation in the androgen receptor (AR) gene. Learning points: Laboratory testing of follicle-stimulating hormone (FSH), leutinizing hormone (LH) and testosterone for pubertal gynecomastia is most helpful in the setting of undervirization. The hormonal finding of very high testosterone, elevated LH and estradiol and relatively normal FSH are classical findings of PAIS. Gynecomastia due to PAIS will not resolve and surgery for breast reduction should be recommended.

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