TITLE:
Urogenital Findings in Ehlers-Danlos Syndrome Correlate with Underlying Tissue Laxity Mechanisms
AUTHORS:
Sahil S. Tonk, Golder N. Wilson
KEYWORDS:
Ehlers-Danlos Syndrome, Urogenital Complications, Bladder Issues, Pelvic Congestion, Hernias, Interstitial Cystitis, Polycystic Ovarian Syndrome, Collagen Gene Change
JOURNAL NAME:
Journal of Biosciences and Medicines,
Vol.13 No.12,
December
11,
2025
ABSTRACT: Urogenital complications of Ehlers-Danlos syndrome are highlighted in an example patient and documented in 1261 others of whom 566 had DNA variants judged relevant by whole exome sequencing. Females with the condition had frequencies of menorrhagia, endometriosis, ovarian cysts, and bladder issues of 70, 21, 34, and 41%, respectively; under-represented males had a 16% frequency of bladder issues. Less common complications like pelvic floor slippage (7.2%), umbilical (3.5%) or inguinal (2.7%) hernias, polycystic ovarian syndrome (5.6%), or vulvodynia (0.56%) were mentioned by women, frequent urination (6.1%), inguinal hernias (5.6%), and cryptorchidism (1.5%) the only ones recurring in men. The pattern of skeletal and neuro-autonomic findings, their age-related occurrence, and their few unique gene changes suggested that patients with more urogenital findings were a more severe version of the typical condition, their recognition adding therapeutic options like mesh surgery, pelvic vein embolism, or urodynamic optimization to the exercise, hydration, and medications known to benefit patients with Ehlers-Danlos syndrome. Recognition of underlying connective tissue dysplasia-dysautonomia mechanisms as the cause of these urogenital complications can optimize patient care and increase clinical genetic understanding of disorders like interstitial cystitis, dysmenorrhea, pelvic floor/congestion, and polycystic ovarian syndrome.