Results 251 to 260 of about 35,890 (290)

Androgen insensitivity syndrome: a review

Journal of Endocrinological Investigation, 2023
Androgen insensitivity syndrome (AIS) is a disorder characterized by peripheral androgen resistance due to androgen receptor mutations in subjects with 46 XY karyotype. The severity of hormone resistance (complete, partial or mild) determines the wide spectrum of phenotypes.We performed a literature review on Pubmed focusing on etiopathogenesis ...
E. Delli Paoli, S. Di Chiano, D. Paoli, A. Lenzi, F. Lombardo, F. Pallotti   +5 more
openaire   +4 more sources

Complete androgen insensitivity syndrome - rare case of malignancy of dysgenetic gonads.

Ceska gynekologie, 2022
OBJECTIVE A case report of a young patient with primary amenorrhea who was diagnosed with agenesis of the uterus and was genetically confirmed for complete androgen insensitivity syndrome with already developed malignancy of dysgenetic gonads.
V. Gamcová, J. Eim, I. Meixnerová, R. Hudeček   +3 more
semanticscholar   +1 more source

Characterization of a novel androgen receptor gene variant identified in an Iranian family with complete androgen insensitivity syndrome (CAIS): a molecular dynamics simulation study

Journal of Biomolecular Structure and Dynamics, 2022
Androgen insensitivity syndrome (AIS) is a common form of 46, XY disorder in sex development disease (DSD). It is due to the androgen receptor (AR) gene mutations and includes clinical subgroups of complete AIS (CAIS) and partial AIS (PAIS), along with a
S. Aghaei, Sepideh Parvizpour, E. Farrokhi, Newsha Molavi, Marziyeh Hoseinzadeh, Mohammad Amin Tabatabaiefar   +5 more
semanticscholar   +1 more source

Androgen insensitivity syndrome

Best Practice & Research Clinical Endocrinology & Metabolism, 2015
Androgen insensitivity syndrome (AIS) results from androgen receptor dysfunction and is a common cause of disorder of sex development. The AIS phenotype largely depends on the degree of residual androgen receptor (AR) activity. This review describes the molecular action of androgens and the range of androgen receptor gene mutations, essential knowledge
Rieko Tadokoro-Cuccaro, Nigel P. Mongan, Ieuan A. Hughes, Trevor Bunch   +3 more
openaire   +4 more sources

Androgen insensitivity syndrome: Can cytology help?

Cytopathology, 2021
Androgen insensitivity syndrome (AIS) is described as a patient's clinical (phenotypical) presentation as a female with male karyotyping. Classically, patients are normal looking females with complaints of primary amenorrhea.
Sakshi Dahiya, Meeta Singh, S. Mandal, Shyama Jain, A. Rathore, P. Lal   +5 more
semanticscholar   +1 more source

Molecular basis of androgen insensitivity syndromes

Molecular and Cellular Endocrinology, 2021
Individuals with complete androgen insensitivity syndrome show a female genital phenotype despite 46, XY gonosomes and the presence of androgen producing testes. This clinical observation indicates the resistance of the body and its cells to androgens like testosterone.
Paul-Martin Holterhus, Nadine Hornig
openaire   +3 more sources

Androgen insensitivity syndrome

Reproductive Medicine Review, 1992
Over the past four years, major advances in the understanding of the aetiology and pathogenesis of the androgen insensitivity syndrome (AIS) have occurred. This review aims to summarize current information on clinical, diagnostic, therapeutic and molecular aspects of AIS.
Jennifer A Batch, Mark Patterson, Leuan A Hughes   +2 more
openaire   +2 more sources

Induced Lactation in a Mother Through Surrogacy With Complete Androgen Insensitivity Syndrome (CAIS)

Journal of Human Lactation, 2020
Introduction Breastfeeding offers the optimal feeding option for newborns in terms of nutritional content and reinforces mother-infant bonding. As a physiological process intrinsically linked to parturition, breastfeeding is no longer reserved for ...
M. LeCain, G. Fraterrigo, W. Drake
semanticscholar   +1 more source

Prenatal Diagnosis of Androgen Insensitivity Syndrome

Fetal Diagnosis and Therapy, 2009
Androgen insensitivity syndrome (AIS) (OMIM 300068) is an X-linked recessive genetic disorder with an XY karyotype that is caused by androgen receptor (AR) defects. We report a prenatal diagnosis case with clinical and molecular findings. The fetal phenotype was female, moreover the autopsy revealed the presence of abdominal testes confirmed by ...
BIANCA S, CATALIOTTI A, BARTOLONI, Giovanni, TORRENTE I, BARRANO B, BOEMI G, LO PRESTI M, INDACO L, BARONE C, ETTORE G.   +9 more
openaire   +3 more sources