Results 101 to 110 of about 3,490,978 (179)

Complete Androgen Insensitivity Syndrome: A Rare Case of Disorder of Sex Development [PDF]

, 2013
Androgen Insensitivity Syndrome (AIS) could be considered as a disease that causes resistance to androgens actions, influencing both the morphogenesis and differentiation of the body structures, and systems in which this hormone exerts its effects.
Alfonsa Pizzo, Irene Borrielli, Nella Dugo, Antonio Simone Laganà   +3 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

Complete androgen insensitivity syndrome with 45,XY,t(13q;14q) translocation (two cases)

, 2002
We report 2 cases of complete androgen insensitivity syndrome from 1 family with 45,XY,t(13q;14q) karyotype including complete testicular feminisation (TF) clinical features.
Perçin E.F., Süngü S., Sezgin I., Özdemir Ö.   +3 more
core   +1 more source

Frame-shift Mutation in Hormone Binding Domain of Human Androgen Receptor Gene Causes Complete Androgen Insensitivity

, 2021
Mutation of the human androgen receptor gene impairs normal sexual differentiation and development in karyotypic males, resulting in a spectrum of external genital phenotypes ranging from complete female to nearly complete male.
정혜원, 김승철, 김형래
core   +1 more source

Hormonal Management of Complete Androgen Insensitivity Syndrome from Adolescence Onward

, 2011
Complete androgen insensitivity syndrome (CAIS) represents a main disorder of sex development. Women with CAIS may have their gonads removed before, during or after adolescence, thus requiring hormonal replacement therapy to induce puberty and/or ...
Silvano Bertelloni, Giampiero I Baroncelli, Olaf Hiort, Eleonora Dati   +3 more
core   +1 more source

Complete Androgen Insensitivity Syndrome

, 2007
Sindrom potpune neosjetljivosti na anđrogene otkriva se u djevojčica adolescentne dobi s izostankom menarhe ili djevojčica mlađe dobi s ingvinalnom hernijom.
Pušeljić, Silvija, Heffer-Lauc, Marija, Štibi, Sanela, Stipoljev, Fedora, Viljetić, Barbara, Škrlec, Ivana, Wagner, Jasenka   +6 more
core  

Complete Androgen Insensitivity Syndrome in a 76 year-old Cadaver [PDF]

Introduction: This case study examines the anatomical and clinical features of a 76-year-old cadaver with Androgen Insensitivity Syndrome (AIS), an X-linked recessive disorder causing androgen resistance, resulting in the feminization of 46, XY ...
Wang, Kevin, Peterson, Diana, Evans, Hayden, Hovanloo, Shervin, Venegas, Abraham M, Edelman, Lyndsey   +5 more
core   +1 more source

SPECTRUM OF XY DISORDERS OF SEX DEVELOPMENT IN PAKISTAN

Pakistan Armed Forces Medical Journal, 2018
Objective: To determine the clinico-endocrinal spectrum of XY Disorders of Sex Development (DSD) according to the new classification in our population. Study Design: Cross sectional study.
Dr Zujaja Hina Haroon, Aamir Ijaz, Muhammad Asad Haroon, Naveed Asif, Qudrat Ullah Malik, Muhammad Ayyub   +5 more
doaj   +2 more sources

Complete androgen insensitivity Syndrome: A rare case report

Asian Journal of Surgery, 2023
Xiao Xiao, Zhou Yang
doaj   +1 more source

Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome

Asian Journal of Andrology
Androgen insensitivity syndrome (AIS) is a condition that emerges from mutations in the androgen receptor (AR) gene, leading to functional defects and subsequent abnormal development of the urogenital sinus.
Xu Wen, Li-Jun Fan, Pei Liu, Jian-Han Shi, Wei-Ping Zhang, Xin Ni, Chun-Xiu Gong   +6 more
doaj   +1 more source