scholarly journals Somatic mosaicism of androgen receptor gene in an androgen insensitivity syndrome patient conceived through assisted reproduction technique

2019 ◽  
Vol 7 (10) ◽  
Author(s):  
Hao Wang ◽  
Hui Zhu ◽  
Nan Wang ◽  
Tong Cheng ◽  
Bing Han ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Assisted Reproduction ◽  
Receptor Gene ◽  
Somatic Mosaicism ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Syndrome Patient ◽  
Assisted Reproduction Technique ◽  
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.

Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene

2017 ◽  
Vol 11 (1) ◽  
pp. 40-45 ◽  
Author(s):  
G. Eastman Welsford ◽  
Rikke Munk ◽  
Daniel A.F. Villagómez ◽  
Poul Hyttel ◽  
W. Allan King ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Dna Binding ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Binding Domain ◽  
Dna Binding Domain ◽  
Androgen Insensitivity

Single nucleotide substitution of the androgen receptor gene in a case with receptor-positive androgen insensitivity syndrome (complete form)

1993 ◽  
Vol 128 (4) ◽  
pp. 355-360 ◽  
Author(s):  
Hiroyuki Kasumi ◽  
Shinji Komori ◽  
Noriyuki Yamasaki ◽  
Hiroki Shima ◽  
Shinzo Isojima
Keyword(s):  
Androgen Receptor ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Androgen Insensitivity Syndrome ◽  
Single Nucleotide ◽  
Androgen Insensitivity ◽  
Complete Form ◽  
Hormone Binding Domain

Complete androgen insensitivity syndrome is caused by X chromosome linked disorder resulting in a target organ insensitivity to androgen. Two variants have been described in this syndrome. In the first, the binding of [3H] dihydrotestosterone(17β-hydroxy-5α-androstan-3-one) to the androgen receptor is undetectable (receptor-negative), whereas in the second variant normal levels of androgen receptor are detectable but the binding of [3H] dihydrotesterone to the androgen receptor is significantly thermolabile under certain conditions (receptor-positive). In receptor-negative cases, genetic disorders of the androgen receptor gene have been demonstrated. On the other hand, the genetic disorder of androgen receptor in receptor-positive cases is little known. In this study, the gene structure of androgen receptor in a receptor-positive case using a polymerase chain reaction technique is studied in the fibroblasts cultured from genital skin. The results demonstrate that the substitution of nucleotide (guanine→cytosine) in exon G of the androgen receptor causes the replacement of an amino acid in position 820 (glycine→alanine) which occurs in the hormone-binding domain of the androgen receptor. The substitution of nucleotide may explain the thermolability of the androgen receptor in a case with receptor-positive androgen insensitivity syndrome.

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