Results 51 to 60 of about 30,274 (252)

Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients

Reproductive Biology and Endocrinology, 2020
Background Abnormal androgen receptor (AR) genes can cause androgen insensitivity syndrome (AIS), and AIS can be classified into complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS) and mild AIS. We investigated
Qingxu Liu, Xiaoqin Yin, Pin Li
semanticscholar   +1 more source

46 XY, Female. Complete androgen insensitivity syndrome: a case report

Journal of Education, Health and Sport, 2022
Introduction: Androgen insensitivity syndrome (AIS) is an inherited disorder of sexual development caused by mutations in the androgen receptor encoding gene.
Anna Grądzik, Anna Gorajek , Małgorzata Kudan, Aleksandra Osiejewska, Karolina Mikut   +4 more
doaj   +1 more source

The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome

International Journal of Molecular Sciences, 2020
Androgen insensitivity syndrome (AIS), manifesting incomplete virilization in 46,XY individuals, is caused mostly by androgen receptor (AR) gene mutations. Therefore, a search for AR mutations is a routine approach in AIS diagnosis.
Erkut Ilaslan, R. Markosyan, Patrick Sproll, Brian J. Stevenson, Malgorzata Sajek, M. Sajek, H. Hayrapetyan, T. Sarkisian, L. Livshits, S. Nef, J. Jaruzelska, Kamila Kusz-Zamelczyk   +11 more
semanticscholar   +1 more source

Androgen insensitivity syndrome: preventive gonadectomy, pros and cons

Ожирение и метаболизм
Androgen insensitivity syndrome is a genetic disorder characterized by complete or partial androgen insensitivity in individuals with a 46XY genotype.
E. A. Starostina, N. V. Frolkova, S. M. Seidova, E. G. Przhiyalkovskaya, N. M. Platonova, E. A. Troshina   +5 more
doaj   +1 more source

Psychological and family intervention with a person diagnosed with complete androgen insensitivity syndrome

Telangana Journal of Psychiatry, 2023
Complete androgen insensitivity syndrome (CAIS) is a rare condition resulting due to the inability of the cell to respond to the masculine hormone (androgen). Often, CAIS patients identify themselves as female and may experience significant psychological
Mysore Narasimha Vranda, Suresh Badamath, Marita Kadicheeni Paul, Radhakrishnan Vasanthra Cicil, Prakyath Ravindranath Hegde, Adharsa Ajayan, Hari Hara Suchendra, Tshering Lhamu   +7 more
doaj   +1 more source

Biology and Management of Male‐Bodied Athletes in Elite Female Sports

Drug Testing and Analysis, EarlyView.
Graphical representation of the relationships of transgender and XY DSDF as male‐bodied athletes along the binary dimensions of biological sex. ABSTRACT The physical advantages in elite power sports that allow men to surpass women are derived from the experience of male puberty.
David J. Handelsman, Stéphane Bermon
wiley   +1 more source

Soft Syndrome Decoding of Quantum LDPC Codes for Joint Correction of Data and Syndrome Errors [PDF]

arXiv, 2022
Quantum errors are primarily detected and corrected using the measurement of syndrome information which itself is an unreliable step in practical error correction implementations. Typically, such faulty or noisy syndrome measurements are modeled as a binary measurement outcome flipped with some probability.
arxiv  

Novel compound variants of the AR and MAP3K1 genes are related to the clinical heterogeneity of androgen insensitivity syndrome

Bioscience Reports, 2020
Androgen insensitivity syndrome (AIS; OMIM 300068) is the most frequent cause of 46, XY disorders of sex development (DSD). However, the correlation between genotype and phenotype has not been determined.
Yiping Cheng, Yan Sun, Y. Ji, Dongqing Jiang, Guoxin Teng, Xiaoming Zhou, Xinli Zhou, Guimei Li, Chao Xu   +8 more
semanticscholar   +1 more source

Challenges in clinical and laboratory diagnosis of androgen insensitivity syndrome: a case report

Journal of Medical Case Reports, 2011
Introduction Androgen is a generic term usually applied to describe a group of sex steroid hormones. Androgens are responsible for male sex differentiation during embryogenesis at the sixth or seventh week of gestation, triggering the development of the ...
Silva Daniela M, Melo Caroline OA, da Cruz Aparecido D   +2 more
doaj   +1 more source

A novel de novo androgen receptor nonsense mutation in a sex-reversed 46,XY infant

Human Genome Variation, 2021
An infant with 46,XY karyotype, and unambiguous female phenotype was found to have testes in the inguinal regions. Capillary sequencing of the androgen receptor (AR) gene identified a hemizygous de novo mutation (NM_000044.6:c.1621G > T) in exon 2 ...
Kok-Siong Poon, Karen Mei-Ling Tan, Kah Yin Loke   +2 more
doaj   +1 more source