Results 121 to 130 of about 10,963 (227)

Androgen receptor genotyping in a large Australasian cohort with androgen insensitivity syndrome; identification of four novel mutations [PDF]

, 2007
We genotyped the androgen receptor (AR) gene in 31 Australasian patients with androgen insensitivity syndrome (AIS). The entire coding region of AR was examined including analysis of polymorphic CAG and GGN repeats in all patients.
Choong, C. S. Y., Cotterill, A. M., Cowley, D. M., Jeske, Y. W. A., McGown, I. N., Oley, C., Thomsett, M. J.   +6 more
core  

Rodent Models of Polycystic Ovary Syndrome [PDF]

, 2013
Rodents are clearly valuable models for assessing disruption of fertility. The effects of different steroid treatments at different stages of reproductive life through from fetal to adult have been assessed for effects on fertility, ovarian morphology ...
Duncan, Colin, McNeilly, Alan S
core   +1 more source

Androgen insensitivity syndrome: a review

Archives of Endocrinology and Metabolism
Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the androgen receptor gene, leading to a frame of hormonal resistance, which may present clinically ...
Rafael Loch Batista, Elaine M. Frade Costa, Andresa de Santi Rodrigues, Nathalia Lisboa Gomes, José Antonio Faria Jr., Mirian Y. Nishi, Ivo Jorge Prado Arnhold, Sorahia Domenice, Berenice Bilharinho de Mendonca   +8 more
doaj   +1 more source

Functional analysis of novel androgen receptor mutations in a unique cohort of Indonesian patients with a disorder of sex development [PDF]

, 2009
Mutations in the androgen receptor (AR) gene, rendering the AR protein partially or completely inactive, cause androgen insensitivity syndrome, which is a form of a 46,XY disorder of sex development (DSD). We present 3 novel AR variants found in a cohort
Brinkmann, A.O. (Albert), Brüggenwirth, H.T. (Hennie), Drop, S.L.S. (Stenvert), Dubbink, H.J. (Erik Jan), Elfferich, P. (Peter), Faradz, S.M.H. (Sultana), Hoogerbrugge, J.W. (Jos), Houtsmuller, A.B. (Adriaan), Jong, F.H. (Frank) de, Juniarto, A.Z. (Achmad), Molier, M., Royen, M.E. (Martin), Santosa, A., Trapman, J. (Jan)   +13 more
core   +1 more source

Comprehensive androgen-dependent transcriptome analysis in human genital tissue

BMC Genomics
Background Androgen signalling through the androgen receptor (AR) is crucial for male genital development. Disruptions in this pathway are associated with androgen insensitivity syndrome (AIS), which is typically caused by mutations in the AR gene ...
Radhika Sivaprasad, Kristian Händler, Almuth Caliebe, Malte Spielmann, Paul-Martin Holterhus, Nadine C. Hornig   +5 more
doaj   +1 more source

"Mixed germ cell testicular tumor" in an adult female

Journal of Human Reproductive Sciences, 2012
The androgen insensitivity (testicular feminization) syndrome was described by Morris in phenotypic females with 46XY karyotype, presenting with primary amenorrhea, adequate breast development, and absent or scanty pubic or axillary hair.
Udasimath Shivakumarswamy, R Purushotham, H K Kumar Naik, K R Nagesha   +3 more
doaj   +1 more source

No Evidence that 2D:4D is Related to the Number of CAG Repeats in the Androgen Receptor Gene [PDF]

, 2013
The length ratio of the second to the fourth digit (2D:4D) is a putative marker of prenatal testosterone (T) effects. The number of CAG repeats (CAGn) in the AR gene is negatively correlated with T sensitivity in vitro. Results regarding the relationship
Honekopp, Johannes
core   +2 more sources

The Physiological, Psychological and Genetic Expressions of XY Female Reporting at Tertiary Care Infertility Clinic of Kingdom of Saudi Arabia

Pakistan Journal of Medical Research, 2022
Background: Disorder in sex development (DSD) refers to a variety of diagnoses in which the development of chromosomal make-up, gonadal development, or anatomical development is abnormal.
Munazzah Rafique, Dania Al Jaroudi
doaj   +2 more sources

Complete Androgen Insensitivity Syndrome with Paratesticular Leiomyoma: A Case Report

대한영상의학회지, 2017
Complete androgen insensitivity syndrome (AIS) is a rare, X-linked recessive disorder. Patients with AIS may develop primary amenorrhea due to androgen receptor resistance, resulting in a normal female phenotype and male (XY) karyotype.
Ji Hoon Lee, Hyung Woo Oh, Mi Ja Lee, Dong Hoon Lim   +3 more
doaj   +1 more source

Role of androgen and gonadotrophins in the development and function of the Sertoli cells and Leydig cells: data from mutant and genetically modified mice [PDF]

, 2009
Development and maintenance of the male phenotype and establishment of fertility are all dependent upon the activity of the Sertoli cells and Leydig cells of the testis.
Abel, M.H., Baker, P.J., Huhtaniemi, I., Morris, I.D., O'Shaughnessy, P.J.   +4 more
core   +1 more source