Persistent Müllerian Duct Syndrome with Supernumerary Testicles Due to a Novel Homozygous Variant in the Gene and Literature Review.

: Persistent Müllerian duct syndrome (PMDS) is a rare disorder of sex development (DSD) caused by mutations in the genes coding anti-Müllerian hormone (AMH) or the AMH receptor, characterized by the persistence of Müllerian derivatives, the uterus and/or fallopian tubes, in otherwise normally virilized boys. Testicular regression syndrome is common in PMDS, yet the association with supernumerary testis has been reported in only two patients where genetic testing was not performed. : Thus, we report an individual with this particular association caused by a previously unreported homozygous variant in the gene to enable future genotype-phenotype correlations in this rare disorder.

Generating and evaluating synthetic data in digital pathology through diffusion models.

Synthetic data is becoming a valuable tool for computational pathologists, aiding in tasks like data augmentation and addressing data scarcity and privacy. However, its use necessitates careful planning and evaluation to prevent the creation of clinically irrelevant artifacts.This manuscript introduces a comprehensive pipeline for generating and evaluating synthetic pathology data using a diffusion model.