Results 51 to 60 of about 28,940 (212)

Differences of adrenal‐derived androgens in 5α‐reductase deficiency versus androgen insensitivity syndrome

Clinical and Translational Science, 2021
Steroid 5α‐reductase type 2 deficiency (5α‐RD2) and androgen insensitivity syndrome (AIS) are difficult to distinguish clinically and biochemically, and adrenal‐derived androgens have not been investigated in these conditions using modern methods.
B. Han, Hui Zhu, Haijun Yao, Jianwei Ren, Patrick J O'Day, Hao Wang, Wen-jiao Zhu, Tong Cheng, R. Auchus, J. Qiao   +9 more
semanticscholar   +1 more source

An assessment of the quality of the I-DSD and the I-CAH registries - international registries for rare conditions affecting sex development [PDF]

, 2017
With the proliferation of rare disease registries, there is a need for registries to undergo an assessment of their quality against agreed standards to ensure their long-term sustainability and acceptability.This study was performed to evaluate the I-DSD
Ahmed, S.F., Bryce, J., Jiang, J., Kourime, M., Nixon, R., Rodie, M.   +5 more
core   +1 more source

Complete Androgen Insensitivity Syndrome: From the Relevance of an Accurate Genetic Diagnosis to the Challenge of Clinical Management. A Case Report

Medicina, 2021
Introduction: Androgen insensitivity syndrome (AIS), an X-linked recessive disorder of sex development (DSD), is caused by variants of the androgen receptor (AR) gene, mapping in the long arm of the X chromosome, which cause a complete loss of function ...
F. Barbagallo, R. Cannarella, M. Bertelli, A. Crafa, S. La Vignera, R. Condorelli, A. Calogero   +6 more
semanticscholar   +1 more source

Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family

BMC Research Notes, 2011
Background The androgen insensitivity syndrome may cause developmental failure of normal male external genitalia in individuals with 46,XY karyotype.
Guerra-Junior Gil, de Calais Flávia L, Soardi Fernanda C, Maciel-Guerra Andréa T, Petroli Reginaldo J, de Mello Maricilda   +5 more
doaj   +1 more source

Unimpaired Neuropsychological Performance and Enhanced Memory Recall in Patients with Sbma: A Large Sample Comparative Study. [PDF]

, 2018
Peculiar cognitive profile of patients with SBMA has been described by fragmented literature. Our retrospective study reports the neuropsychological evaluations of a large cohort of patients in order to contribute towards the understanding of this field.
A. (2018).,, Bertolin, C., Cipolletta, S., Kleinbub, J. R., Marcato, S., Martinelli, I., Palmieri, Arianna, Pegoraro, E, Pick, E., Querin, G., Sorar\uf9, G.   +10 more
core   +1 more source

Malignant Leydig Cell Tumor in Elderly Complete Androgen Insensitivity Patient: A Case Report

Journal of Nepal Medical Association, 2019
There are various cause of Primary amenorrhea in phenotypically females such as, complete androgen insensitivity syndrome, pure gonadal dysgenesis, 17b-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis.
Sundar Shrestha, Niroj Banepali, Rakesh Sthapit, Dipesh Agrawal   +3 more
doaj   +1 more source

Dilemmas in management of osteoporosis in patients with complete androgen insensitivity syndrome

BMJ Case Reports, 2021
Complete androgen insensitivity syndrome (CAIS)—resulting in 46,XY karyotype, but female phenotype—is a disorder of sex development and primary amenorrhea, but its effect on bone mineral density (BMD) is singular and difficult to manage. Androgens are an
Tanner A. Slayden, Elizabeth M Bauer, M. Shakir, T. Hoang   +3 more
semanticscholar   +1 more source

Partial Androgen Insensitivity Syndrome Presenting with Gynecomastia [PDF]

Endocrinology and Metabolism, 2015
Gynecomastia is a benign enlargement of the male breast caused by the proliferation of glandular breast tissue. Determining the various causes of gynecomastia such as physiological causes, drugs, systemic diseases, and endocrine disorders is important ...
Sung Won Lee, Dong Shin Kwak, In Sub Jung, Joo Hee Kwak, Jung Hwan Park, Sang Mo Hong, Chang Bum Lee, Yong Soo Park, Dong Sun Kim, Woong Hwan Choi, You Hern Ahn   +10 more
doaj   +1 more source

Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli–Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review

Journal of Clinical Medicine
Androgen insensitivity syndrome (AIS) is a rare Mendelian disorder caused by mutations of the androgen receptor (AR) gene on the long arm of the X chromosome.
A. I. Karseladze, A. Asaturova, Irina A. Kiseleva, A. Badlaeva, A. Tregubova, A. Zaretsky, E. V. Uvarova, M. Zanelli, A. Palicelli   +8 more
semanticscholar   +1 more source

A rare case of woman with complete androgen insensitivity syndrome

Journal of Education, Health and Sport, 2022
Introduction: Androgen insensitivity syndrome (AIS) is an inherited disorder of sexual development caused by mutations in the androgen receptor encoding gene.
Anna Grądzik, Anna Gorajek , Małgorzata Kudan , Aleksandra Osiejewska , Karolina Mikut   +4 more
doaj   +1 more source