Results 31 to 40 of about 3,490,978 (179)

An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome. [PDF]

Nagoya J Med Sci, 2023
We report a Vietnamese family with complete androgen insensitivity syndrome that included several phenotypic females who have a 46,XY karyotype with an extremely rare mutation of the androgen receptor gene.
Ha TMT, Le PTQ, Le TNU, Hoang TTY.
europepmc   +2 more sources

Ovarian-Specific FOXL2 Protein Expression in Testes from Patients with Complete Androgen Insensitivity Syndrome and Undescended Testes. [PDF]

Sex Dev
Wolffenbuttel KP, Stoop H, Hersmus R, Dinkelman-Smit M, Hannema SE, van Leenders GJHL.   +5 more
europepmc   +2 more sources

Seminoma Arising From an Intra-abdominal Testis in a Phenotypic Female With Complete Androgen Insensitivity Syndrome (CAIS): A Rare Case Report From a South Indian Tertiary Cancer Centre. [PDF]

Cureus
Ramya Lakshmi KV, Ramanathan G, Ambalathandi RC.   +2 more
europepmc   +3 more sources

Primary Amenorrhea in an 18-Year-Old Phenotypic Female With a 46,XY Karyotype: Complete Androgen Insensitivity Syndrome. [PDF]

Cureus
Katiyar R, Chaurasia DK, Kumar A, Mishra S, Sabberwal A.   +4 more
europepmc   +3 more sources

Pediatric Complete Androgen Insensitivity Syndrome (CAIS): Clinical Presentation, Hormonal Profiles, and Gonadal Management [PDF]

J Clin Res Pediatr Endocrinol
Marczak E, Szarras-Czapnik M, Skórka A, Kowalczyk K, Grochowska G, Walewska-Wolf M, Antoniak B, Bajszczak K, Moszczyńska E.   +8 more
europepmc   +3 more sources

Complete androgen insensitivity syndrome in a 15-year-old female with primary amenorrhea and undescended testes: a rare case report. [PDF]

Radiol Case Rep
Zerin F, Bhadra TK, Sadia R, Shahriar Z.
europepmc   +2 more sources

A case of bilateral oophorectomy in a 40-day-old female due to a misdiagnosis of complete androgen insensitivity syndrome. [PDF]

Ann Med Surg (Lond)
Chreitah A, Abo Kaf B, Aljanati O, Alkilany Z, Issa M, Jraikoos I.   +5 more
europepmc   +2 more sources

The challenges of androgen insensitivity syndrome

Archives of Medical Science, 2021
Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic syndrome that occurs as result of an androgen receptor mutation; it affects the normal masculinization process in chromosomal male patients.
Bratu Ovidiu, Dragos R. Marcu, Dan L. D. Mischianu, Catalina Poiana, Camelia C. Diaconu, Simona G. Bungau, Delia M. Tit, Alin Cumpanas, Roxana Bohiltea   +8 more
doaj   +1 more source

Complete Androgen Insensitivity Syndrome in a Phenotypic Female: The Role of Frozen Section in Assisting Diagnosis. [PDF]

Cureus
Bhatt VR, Tomar R, Sharma N, Goswami D, Khurana N.   +4 more
europepmc   +3 more sources

Challenges in the Diagnosis of XY Differences of Sexual Development

Medicina, 2022
Background: We report the clinical case of female patient with 46,XY difference of sexual development (DSD) and discuss the challenges in the differential diagnosis between complete gonadal dysgenesis (also called Swyer syndrome) and complete androgen ...
Žana Bumbulienė, Diana Bužinskienė, Greta Banuškevičienė, Evelina Šidlovska, Eglė Preikšaitienė, Algirdas Utkus   +5 more
doaj   +1 more source