Results 101 to 110 of about 30,274 (252)

Bone mineral density, body composition and metabolic profiles in adult women with complete androgen insensitivity syndrome and removed gonads using oral or transdermal estrogens.

European Journal of Endocrinology, 2019
OBJECTIVES To assess bone health in adult women with complete androgen insensitivity syndrome (CAIS) and removed gonads compared with age-matched healthy controls.
Giulia Gava, I. Mancini, Isabella Orsili, S. Bertelloni, Stefania Alvisi, R. Seracchioli, M. Meriggiola   +6 more
semanticscholar   +1 more source

A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome

AACE Clinical Case Reports, 2016
: Objective: Androgen insensitivity syndrome is the most common cause of 46,XY disorders of sex development (DSD). This condition is inherited from an X-linked recessive pattern, and the most common causes are inactivating mutations in the androgen ...
Hale Tuhan, MD, Ayhan Abaci, MD, Ayca Aykut, MD, Ahmet Anik, MD, Hüseyin Onay, MD, Ece Bober, MD   +5 more
doaj  

Mobile DNA in Endocrinology: LINE-1 retrotransposon causing Partial Androgen Insensitivity Syndrome.

Journal of Clinical Endocrinology and Metabolism, 2019
CONTEXT Androgen insensitivity syndrome (AIS) is the most common cause of disorders of sex development in 46,XY individuals. It is an X-linked condition that is usually caused by pathogenic allelic variants in the androgen receptor (AR) gene.
R. Batista, K. Yamaguchi, A. Rodrigues, M. Nishi, J. Goodier, L. Carvalho, S. Domenice, E. Costa, H. Kazazian, B. Mendonca   +9 more
semanticscholar   +1 more source

Complete androgen insensitivity syndrome: Case based review article

Journal of Medical and Scientific Research, 2015
Complete androgen insensitivity syndrome (CAIS) a form of 46 XY disorder of sex development (DSD), usually presents with an inguinal hernia in an infant or a child and with primary amenorrhea in adult phenotypic female. We hereby report a case who reared
Babulreddy
doaj   +1 more source

Syndrome Measurement Strategies for the [[7,1,3]] Code [PDF]

arXiv, 2015
Quantum error correction (QEC) entails the encoding of quantum information into a QEC code space, measuring error syndromes to properly locate and identify errors, and, if necessary, applying a proper recovery operation. Here we compare three syndrome measurement protocols for the [[7,1,3]] QEC code: Shor states, Steane states, and one ancilla qubit by
arxiv  

Gonadal Tissue Cryopreservation for a Girl With Partial Androgen Insensitivity Syndrome

Journal of the Endocrine Society, 2019
Individuals with differences/disorders of sex development (DSD) have increased rates of infertility. For children and youth undergoing prophylactic gonadectomy for malignancy risk, our institution offers gonadal tissue cryopreservation, an experimental ...
Esther L. Finney, Emilie K. Johnson, Diane Chen, Barbara A. Lockart, E. Yerkes, E. Rowell, M. Madonna, E. Cheng, C. Finlayson   +8 more
semanticscholar   +1 more source

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  

Complete Androgen Insensitivity Syndrome in Three Sisters [PDF]

International Journal of Fertility and Sterility, 2014
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
Levent Verim
doaj  

Androgen Insensitivity Syndrome

Archives of Pathology & Laboratory Medicine, 1999
AbstractObjective.—To evaluate the morphometric, immunohistochemical, and ultrastructural lesions of the testes in prepubertal and adult patients with androgen insensitivity syndrome.Methods.—We examined the testicular biopsy using immunohistochemistry for vimentin, smooth muscle actin, and collagen IV antigens.
Ricardo Paniagua, Manuel Nistal, Javier Regadera, Francisco Martínez-García   +3 more
openaire   +2 more sources

Somatic mosaicism of androgen receptor gene in an androgen insensitivity syndrome patient conceived through assisted reproduction technique

Molecular Genetics & Genomic Medicine, 2019
Mutations of human androgen receptor (AR) gene are responsible for androgen insensitivity syndrome (AIS). Variable phenotypes and androgen receptor binding activity have permitted the classification of AIS into complete (CAIS), partial (PAIS), and ...
Hao Wang, Hui Zhu, Nan Wang, Tong Cheng, B. Han, Shuang-Xia Zhao, Huaidong Song, Kaixiang Cheng, Yang Liu, J. Qiao   +9 more
semanticscholar   +1 more source