Results 61 to 70 of about 30,131 (248)

Mild androgen insensitivity syndrome presenting as male infertility with azoospermia

Sri Lanka Journal of Diabetes Endocrinology and Metabolism, 2018
Androgen insensitivity syndrome results from a mutation in androgen receptor gene. It has wide spectrum of phenotypic presentations. Mild androgen insensitivity syndrome (MAIS) is the milder form, present as undervirilized male syndrome.
Dharshini Karuppiah, Sanduni Kudabadu
doaj   +1 more source

Novas perspectivas no diagnóstico do hipogonadismo pediátrico masculino: a importância do AMH como marcador de células de Sertoli [PDF]

, 2011
Sertoli cells are the most active cell population in the testis during infancy and childhood. In these periods of life, hypogonadism can only be evidenced without stimulation tests, if Sertoli cell function is assessed.
Grinspon, Romina, Rey, Rodolfo Alberto
core   +2 more sources

Sex assignment in conditions affecting sex development [PDF]

, 2017
The newborn infant with atypical genitalia presents a challenging clinical scenario and requires expert input. There have been appreciable advances in our knowledge of the underlying causes that may lead to a mere difference or a more serious disorder of
Ahmed, S. Faisal, Markosyan, Renata
core   +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

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

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

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