Results 91 to 100 of about 3,490,978 (179)

A novel androgen receptor mutation resulting in complete androgen insensitivity syndrome and bilateral Leydig cell hyperplasia [PDF]

, 2006
Androgens drive male secondary sexual differentiation and maturation. Mutations in the androgen receptor (AR) gene cause a broad spectrum of abnormal phenotypes in humans, ranging from mild through partial to complete androgen insensitivity.
Shastry, Prabhakar K., Singh, Rajender, Thangaraj, K., Singh, Lalji, Rasalkar, Avinash A.   +4 more
core   +1 more source

Androgen insensitivity syndrome [PDF]

, 2018
OBJECTIVE: We provide a review of the literature about the Androgen Insensitivity Syndrome (AIS), its onset and associated developmental anomalies and the genetic alterations causing it. MATERIALS AND METHODS: We searched PubMed with a larger emphasis on
Gaffi, M, Bernardo, S, Costantini, FM, Piergentili, R, Costantini, F M, Zangari, A, Briganti, V, Signore, F, Porrello, A, Vallone, C, Gulía, C, Baldassarra, S, Piergentili R, Gigli, S, Nucciotti, R, Pizzuti, A   +15 more
core   +1 more source

Complete Androgen Insensitivity Syndrome in Three Sisters

, 2020
Disorders of sexual development (DSD) are congenital anomalies due to atypical development of chromosomes, gonads and anatomy. Complete androgen insensitivity syndrome (CAIS), also known as testicular feminization (TF) is a rare DSD disease. The majority
M.D Levent Verim
core  

Androgen receptor gene mutations in 46, XY females

Journal of Research in Medical Sciences, 2006
The androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males.
Mir Davood Omrani, Soraya Saleh Gargari
doaj  

Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic

Endocrine Connections, 2017
Objective: To review the treatment choices of women with complete androgen insensitivity syndrome (CAIS) at a single tertiary centre. Design: Retrospective review. Patients: Women with CAIS identified from our database.
Jennifer K Y Ko, Thomas F J King, Louise Williams, Sarah M Creighton, Gerard S Conway   +4 more
doaj   +1 more source

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

, 2013
Wstęp: Mutacje w genie receptora androgenowego (AR, Androgen Receptor) są najczęstszą przyczyną zaburzeń różnicowania płci (DSD,Disorders of Sex Development) powodującą zespół niewrażliwości na androgeny (AIS, Androgen Insensitivity Syndrome).
Jędrzejczyk, Sławomir, Borkowska, Edyta, Słowikowska-Hilczer, Jolanta, Pietrusiński, Michał, Kałużewski, Bogdan, Helszer, Zofia, Moczulska, Hanna, Dmochowska, Anita   +7 more
core   +1 more source

Abstracts

Molecular Oncology, Volume 20, Issue S1, Page 1-692, August 2026.
Abstracts submitted to the ‘EACR 2026 Congress: Innovative Cancer Science’, from 08–11 June 2026 and accepted by the Congress Organising Committee are published in this Supplement of Molecular Oncology, an affiliated journal of the European Association for Cancer Research (EACR).
wiley   +1 more source

Phenotypic diversity in siblings with partial androgen insensitivity syndrome

, 1997
The androgen insensitivity syndrome is a heterogeneous disorder with a wide spec-trum of phenotypic abnormalities, rang-ing from complete female to ambiguous forms that more closely resemble males. The primary abnormality is a defective androgen receptor
Bevan, C. L., Gregory, John Welbourn, I A Hughes, B A J Evans, M N Patterson, Patterson, M. N., J W Gregory, C L Bevan, Hughes, I. A., Evans, Bronwen Alice James   +9 more
core   +1 more source

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

Residual activity of mutant androgen receptors explains wolffian duct development in the complete androgen insensitivity syndrome

, 2004
Development of the Wolffian ducts (WD) into epididymides and vasa deferentia is dependent on testosterone. Patients with the complete androgen insensitivity syndrome (CAIS) are therefore not expected to develop these structures.
Hodapp, John, Hannema, Sabine E., Hughes, Ieuan A., Martin, Howard, Coleman, Nick, Schwabe, John W., Scott, Ian S.   +6 more
core   +1 more source