Complete Androgen Insensitivity Syndrome
What's New
Last Posted: Mar 10, 2023
- Clinical and genetic characterization of six cases with complete androgen insensitivity syndrome in China.
He Jing, et al. Journal of genetics 2017 0 (4) 695-700 - Computational analysis of androgen receptor (AR) variants to decipher the relationship between protein stability and related-diseases.
Chen Fangfang, et al. Scientific reports 2020 0 (1) 12101 - Clinical characteristics, AR gene variants, and functional domains in 64 patients with androgen insensitivity syndrome.
Liu Q, et al. Journal of endocrinological investigation 2022 0 (1) 151-158 - [Androgen insensitivity syndrome discovered due to discordance in prenatal assessments of fetal gender].
Trier Cæcilie, et al. Ugeskrift for laeger 2020 0 (51) - Whole exome sequencing reveals copy number variants in individuals with disorders of sex development.
Sreenivasan Rajini, et al. Molecular and cellular endocrinology 2022 0 111570 - Minor hypospadias: the "tip of the iceberg" of the partial androgen insensitivity syndrome.
Kalfa Nicolas, et al. PloS one 2013 0 (4) e61824 - Complete androgen insensitivity syndrome
From NCATS Genetic and Rare Diseases Information Center - Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
Audi L, et al. The Journal of clinical endocrinology and metabolism 2010 4 (4) 1876-88
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 07, 2023
- Content source: