نتایج جستجو برای: insensitivity syndrome

تعداد نتایج: 626376  

2018
Mary F. Lyon Susan G. Hawkes

Androgen Insensitivity Syndrome (AIS) is a human disorder in which an individual's genetic sex (genotype) differs from that individual's observable secondary sex characteristics (phenotypes). A fetus [4] with AIS is genetically male with a 46,XY genotype. The term 46,XY refers to the chromosomes found in most cells of the fetus [4]. Most cells have a total of 46 autosomes, or non-sex chromosome...

2015

Androgen insensitivity syndrome (AIS) is a condition that results in the partial or complete inability of the cell to respond to androgens (androgenic hormones) that stimulate or control the development and maintenance of male physiological characteristics by binding to androgen receptors. The unresponsiveness of the cell to the presence of androgenic hormones can impair, or prevent, both the m...

Journal: :Archives of Endocrinology and Metabolism 2018

Journal: :Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2008
Asra Hashmi Farha Hanif Shumaila Muhammad Hanif Farhan Essa Abdullah Muhammad Shahid Shamim

The incidence of Complete Androgen Insensitivity Syndrome (CAIS) is about 1 in 20,000. People with CAIS are normal appearing females, despite the presence of testes and a 46, XY chromosome constitution. We came across a case in which a 17 years old girl presented with the complaint of inguinal hernia and amenorrhea. Subsequent investigations were done revealing absence of female internal genita...

Journal: :The Journal of Obstetrics and Gynecology of India 2012

Journal: :international journal of fertility and sterility 0

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Journal: :World Journal of Biology Pharmacy and Health Sciences 2023

Complete Androgen Insensitivity Syndrome (CAIS) is a rare X-linked recessive disorder. Patients have 46 XY karyotype, and the external genitalia of normal female. In this manuscript, we describe nine year old child diagnosed at three years age with Autoimmune Polyendocrine type-1 (APS-1). The was female no hernia. Parents initially declined any endocrine disorder in family. Genetic study, which...

Journal: :The Journal of clinical endocrinology and metabolism 2001
A L Boehmer O Brinkmann H Brüggenwirth C van Assendelft B J Otten M C Verleun-Mooijman M F Niermeijer H G Brunner C W Rouwé J J Waelkens W Oostdijk W J Kleijer T H van der Kwast M A de Vroede S L Drop

Androgen insensitivity syndrome encompasses a wide range of phenotypes, which are caused by numerous different mutations in the AR gene. Detailed information on the genotype/phenotype relationship in androgen insensitivity syndrome is important for sex assignment, treatment of androgen insensitivity syndrome patients, genetic counseling of their families, and insight into the functional domains...

2013
Marco Nezzo Pieter De Visschere Guy T'Sjoen Steven Weyers Geert Villeirs

Complete androgen insensitivity syndrome is an X-linked recessive androgen receptor disorder characterized by a female phenotype with an XY karyotype. Individuals affected by this syndrome have normal female external genitalia but agenesis of the Müllerian duct derivatives, that is, absence of the Fallopian tubes, uterus, cervix, and the proximal part of the vagina, with presence of endoabdomin...

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