Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1210/jcem-25-5-661 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
A case of testicular leiomyoma in androgen insensitivity syndrome: exploring malignancy controversies.
Oxf Med Case Reports
January 2025
Department of Biochemistry, Samyak Diagnostic Pvt Ltd, Yala Sadak, Kathmandu 44600, Nepal.
Testicular leiomyoma is an exceptionally rare finding in patients with androgen insensitivity syndrome (AIS). Here, we present a report of a 30-year-old individual diagnosed with complete AIS who presented with an inguinal mass subsequently identified as a right sided testicular leiomyoma. While leiomyoma are generally considered benign, controversies persist regarding the potential for malignancy in inguinal masses among AIS patients.
View Article and Find Full Text PDFNovel and recurrent genetic variants associated with male and female infertility.
J Appl Genet
January 2025
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Recently, the knowledge of the genetic basis of fertility disorders has expanded enormously, mainly thanks to the use of next-generation sequencing (NGS). However, the genetic cause of infertility, in the majority of patients, is still undefined. The aim was to identify novel and recurrent pathogenic/likely pathogenic variants in patients with isolated infertility or puberty delay using a targeted NGS technique.
View Article and Find Full Text PDFSingle-port Laparoscopic Bilateral Orchiectomy via Total Extraperitoneal Approach in Androgen Insensitivity Syndrome.
J Minim Invasive Gynecol
January 2025
Department of Obstetrics and Gynecology, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea. Electronic address:
Expanding the Molecular Landscape of Androgen Insensitivity Syndrome Through Next-Generation Sequencing.
Appl Clin Genet
December 2024
Department of Genetics, Polish Mother's Memorial Hospital Research Institute, Lodz, 93-338, Poland.
Androgen insensitivity syndrome (AIS) is an X-linked genetic disorder caused by mutations in the androgen receptor gene (), leading to impaired androgen signaling and resulting in varying degrees of undermasculinization in individuals with a 46,XY karyotype. This study aimed to expand the molecular landscape of AIS by identifying and characterizing pathogenic variants in the gene via next-generation sequencing (NGS). Molecular diagnostics revealed eight distinct variants within the gene, two of which had not been previously described.
View Article and Find Full Text PDFMcIndoe Vaginoplasty in MRKHS: Case Report and Literature Review.
Clin Case Rep
December 2024
Department of Obstetrics and Gynecology Tribhuvan University, Institute of Medicine Kathmandu Nepal.
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a rare congenital disorder characterized by agenesis of the uterus and upper two-thirds of the vagina. It affects around 1 in 4000-5000 females and is of two types: type 1, also known as isolated Müllerian aplasia or Rokitansky, which involves only uterovaginal agenesis, and type 2, presents as uterovaginal agenesis along with renal, cardiac, and other organ anomalies. Despite the absence of vaginal and uterine structures, individuals with MRKHS typically present with normal secondary sexual characteristics and ovarian functions.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!