scholarly journals A novel mutation (c.T3816 > C) in the androgen receptor gene in a 46,XY female patient with androgen insensitivity syndrome

2013 ◽  
Vol 64 (5) ◽  
pp. 398-402 ◽  
Author(s):  
Zofia Helszer ◽  
Anita Dmochowska ◽  
Edyta Borkowska ◽  
Hanna Moczulska ◽  
Jolanta Słowikowska-Hilczer ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Female Patient ◽  
Novel Mutation ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Androgen Insensitivity ◽  
Xy Female

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.

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
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