The article describes one of the forms of 46 XY DSD which is related to androgen peripheral actions. There are two disorders related to DSD with preserved testosterone production by the testes, which are Androgen insensitivity syndrome (AIS) and type 5α-reductase deficiency. Although the above-mentioned conditions have similar clinical manifestations, they are initiated by different pathogenetic mechanisms. AIS has X-linked recessive inheritance pattern and is presented by total or partial insensitivity of androgen receptors to male sex hormones.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Novel 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 PDFApplication of Original Prostate Cancer Progression Model Interacting with Fibroblasts in Preclinical Research.
J Clin Med
December 2024
Department of Oncologic Pathology, Mie University Graduate School of Medicine, Tsu 514-8507, Japan.
Prostate cancer (PCa) is a heterogeneous disease that exhibits androgen sensitivity and responsiveness to androgen deprivation therapy (ADT). However, ADT induces only temporary remission, and the majority of PCa cases eventually progress to castration-resistant PCa (CRPC). During the development and progression of CRPC, androgen sensitivity and androgen receptor (AR) dependency in PCa cells are often deceased or lost due to ADT or spontaneously arising AR variants even before starting ADT.
View Article and Find Full Text PDFCellular cartography reveals mouse prostate organization and determinants of castration resistance.
bioRxiv
December 2024
Michigan Center for Translational Pathology, University of Michigan, Ann Arbor, MI, 48109.
Inadequate response to androgen deprivation therapy (ADT) frequently arises in prostate cancer, driven by cellular mechanisms that remain poorly understood. Here, we integrated single-cell RNA sequencing, single-cell multiomics, and spatial transcriptomics to define the transcriptional, epigenetic, and spatial basis of cell identity and castration response in the mouse prostate. Leveraging these data along with a meta-analysis of human prostates and prostate cancer, we identified cellular orthologs and key determinants of ADT response and resistance.
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 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!