Results 271 to 280 of about 35,890 (290)

Androgen insensitivity syndrome: Gonadal androgen receptor activity

American Journal of Obstetrics and Gynecology, 1984
To determine whether abnormalities of the androgen receptor previously observed in skin fibroblasts from patients with androgen insensitivity syndrome also occur in the gonads of affected individuals, androgen receptor activity in the gonads of a patient with testicular feminization syndrome was investigated.
Mark L. Graham, Thomas C. Spelsberg, Carolyn B. Coulam   +2 more
openaire   +3 more sources

Genetic Analysis Reveals Complete Androgen Insensitivity Syndrome in Female Children Surgically Treated for Inguinal Hernia

Journal of investigative surgery, 2019
Background: Complete androgen insensitivity syndrome (CAIS) is a congenital condition caused by genetic defects in the androgen receptor (AR) gene located on the X chromosome, which lead to a phenotypical female individual with a 46, XY karyotype.
N. Listyasari, Gorjana Robevska, A. Santosa, A. Bouty, AZ Juniarto, J. van den Bergen, K. Ayers, A. Sinclair, S. Faradz   +8 more
semanticscholar   +1 more source

Partial androgen insensitivity syndrome with thermolability in the androgen receptor

International Journal of Urology, 2006
Abstract  We report case of partial androgen insensitivity syndrome in a 12‐year‐old boy referred to our clinic complaining of bilateral gynecomastia and left undescended testicle. Laparoscopy for undescended testicle and bilateral mastectomy were performed, and the left testicle was absent.
Akihiro Kawauchi, Hiroki Shima, Jintetsu Soh, Hiroshi Ohe, Kenji Hiraoka, Tsuneharu Miki   +5 more
openaire   +3 more sources

Mutations of androgen receptor gene in androgen insensitivity syndromes

The Journal of Steroid Biochemistry and Molecular Biology, 1993
The androgen receptor belongs to the family of steroid-thyroid hormone-retinoid nuclear receptors. It contains 3 major domains: a hormone-binding region, a DNA-binding region and an amino-terminal region. Cloning of the cDNA encoding the androgen receptor and elucidation of the androgen receptor gene structure enabled the characterization of the ...
Jean-Marc A. Lobaccaro, Charles Sultan, Charles Belon, Nicolas Poujol, Christel Boudon, Serge Lumbroso   +5 more
openaire   +3 more sources

Gonadoblastoma in Androgen Insensitivity Syndrome A Case Report

Tumori Journal, 2003
We report a case of androgen insensitivity syndrome (AIS) characterized by malignant degeneration of the testes consisting of gonadoblastoma and dysgerminoma. AIS is a rare inherited form of male pseudohermaphroditism that can manifest as a normal female phenotype without müllerian derivatives and absence of the upper third of the vagina.
RASPAGLIESI F, DITTO A, COBELLIS, Luigi, QUATTRONE P, FONTANELLI R, KUSAMURA S, SOLIMA E.   +6 more
openaire   +4 more sources

A novel missense mutation in the androgen receptor gene causes the complete androgen insensitivity syndrome

Journal of Obstetrics and Gynaecology Research, 2019
The androgen receptor (AR) gene, located at chromosome Xq11-12 with eight exons, encodes a 110 kDa nuclear protein that has a pivotal function in the process of male sexual differentiation and maturation (Brown et al.
X. Liu, Z. Cai, Fang Li, L. Ji
semanticscholar   +1 more source

Testicular development in the complete androgen insensitivity syndrome

The Journal of Pathology, 2006
AbstractThe complete androgen insensitivity syndrome (CAIS), caused by mutations in the androgen receptor (AR) gene, is associated with abnormal testicular development and an increased risk of germ cell malignancy. Previous histological studies in CAIS have selected patients purely on the basis of clinical diagnosis and were mostly based on small ...
Hannema, S. E., Scott, I. S., Rajpert-De Meyts, E., Skakkebæk, N. E., Coleman, N., Hughes, I. A.   +5 more
openaire   +4 more sources

Partial Androgen Insensitivity

New England Journal of Medicine, 1977
We investigated eight patients with the Reifenstein syndrome to define the hormonal basis for this condition. The patients had normal or elevated concentrations of plasma androgens, normal production rates of testosterone and dihydrotestosterone, elevated serum levels of luteinizing hormone and normal 5alpha-reductase activity in skin fibroblasts ...
Patrick C. Walsh, Georgeanna Jones Klingensmith, James A. Amrhein, Claude J. Migeon, Victor A. McKusick   +4 more
openaire   +3 more sources

Mild androgen insensitivity syndrome: the current landscape.

Endocrine Practice, 2022
R. Batista, Flora Ladeira Craveiro, R. M. Ramos, B. Mendonca   +3 more
semanticscholar   +1 more source

Complete androgen insensitivity syndrome caused by a novel mutation in the androgen receptor gene and its mechanism.

Clinica chimica acta; international journal of clinical chemistry, 2022
Dan Zhou, Hua Xu, Xiaorong Shen, Ruihuan Gu, Ying Chen, Guowu Chen, Pan Li, Huijuan Shi, Xiaoxi Sun, Ai-jie Xin   +9 more
semanticscholar   +1 more source