Abdominal Mass in a Phenotypic Female with 46,XY Differences in Sex Development.

Urology

The James Buchanan Brady Urological Institute, Department of Urology, Johns Hopkins University School of Medicine, Baltimore, MD. Electronic address:

Published: March 2023

We present a case of a large intra-abdominal mass found to be localized pure seminoma within a retained gonad of a 53-year-old phenotypic female with 46,XY differences in sex development (DSD) and androgen insensitivity syndrome (AIS). Our management included extirpation of the mass with contralateral gonadectomy. Historically, patients with AIS would undergo gonadectomy to mitigate the lifetime risk of testicular germ cell tumor development; however, growing evidence suggests safety in retention and surveillance of these gonads into adulthood. This case highlights the importance of lifetime surveillance of patients with 46,XY DSD who elect to retain their gonads.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.urology.2022.11.039DOI Listing

Publication Analysis

Top Keywords

phenotypic female
8
female 46xy
8
46xy differences
8
differences sex
8
sex development
8
abdominal mass
4
mass phenotypic
4
development case
4
case large
4
large intra-abdominal
4

Similar Publications

GWAS-Significant Loci and Uterine Fibroids Risk: Analysis of Associations, Gene-Gene and Gene-Environmental Interactions.

Front Biosci (Schol Ed)

December 2024

Laboratory of Genomic Research, Research Institute for Genetic and Molecular Epidemiology, Kursk State Medical University, 305041 Kursk, Russia.

Background: Uterine fibroids (UF) is the most common benign tumour of the female reproductive system. We investigated the joint contribution of genome-wide association studies (GWAS)-significant loci and environment-associated risk factors to the UF risk, along with epistatic interactions between single nucleotide polymorphisms (SNPs).

Methods: DNA samples from 737 hospitalised patients with UF and 451 controls were genotyped using probe-based PCR for seven common GWAS SNPs: rs117245733 , rs547025 rs2456181 , rs7907606 , , rs58415480 , rs7986407 , and rs72709458 .

View Article and Find Full Text PDF

Background: The Japanese quail () is a small migratory bird whose main habitats are located in East Asia, Russia, China, Japan, Korea, and India. The Japanese quail was first introduced into the Iraqi research sector in the early 1980s. This investigation aimed to identify the genetic divergence between the available genetic lines of the Japanese quail in Iraq as a first step to conducting further conservation and breeding, benefiting from studying the genetic diversity related to productivity, adaptation, and immune susceptibility.

View Article and Find Full Text PDF

The PKM2/HIF-1α Axis is Involved in the Pathogenesis of Endometriosis via TGF-β1 under Endometrial Polyps.

Front Biosci (Landmark Ed)

December 2024

Department of Reproductive Medicine, Dongying People's Hospital, 257091 Dongying, Shandong, China.

Background: Endometriosis patients exhibit a cancer-like glycolytic phenotype. The pyruvate kinase M2 (PKM2)/hypoxia-inducible factor-1 alpha (HIF-1α) axis plays important roles in glycolysis-related diseases, but its role in patients with endometrial polyps (EPs) combined with endometriosis has not been validated.

Methods: EP samples were collected from patients with and without endometriosis.

View Article and Find Full Text PDF

Time-varying changes in whole-brain connectivity patterns, or connectome state dynamics, hold significant implications for cognition. However, connectome dynamics at fast (>1 Hz) timescales highly relevant to cognition are poorly understood due to the dominance of inherently slow fMRI in connectome studies. Here, we investigated the behavioral significance of rapid electrophysiological connectome dynamics using source-localized EEG connectomes during resting state ( = 926, 473 females).

View Article and Find Full Text PDF

Time-varying changes in whole-brain connectivity patterns, or connectome state dynamics, are a prominent feature of brain activity with broad functional implications. While infraslow (<0.1 Hz) connectome dynamics have been extensively studied with fMRI, rapid dynamics highly relevant for cognition are poorly understood.

View Article and Find Full Text PDF

Want 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!