Genital Graft-versus-Host Disease in Children: An Underdiagnosed and Undertreated Entity

Genital graft-versus-host disease (GVHD) is an underdiagnosed and poorly recognized complication, especially in the pediatric population. We report our data on children with genital manifestations of GVHD and their unique clinical features. The study included children up to age 18 years who underwent hematopoietic stem cell transplantation (HSCT) over a 20-year period from February 2002 to February 2022. A total of 1035 children underwent HSCT during the study period. Genital GVHD was documented in 164 children (15.8%). Among these 164 children, 23 (14%) were age <2 years, 98 (59.8%) were age 2 to 10 years, and 43 (26.2%) were age ≥10 years. The conditioning regimen was myeloablative in 122 children (74.4%) and reduced intensity in 42 children (25.6%). Donor type was matched related donor in 62 (37.8%), matched unrelated donor in 44 (26.8%), and haploidentical in 34 (20.7%). Peripheral blood stem cells (PBSCs) were used in 78.7% of the children (n = 129), and sex mismatch was noted in 31.1% of genital GVHD cases (51 of 164). The overall incidence of chronic oral GVHD was 33% (342 of 1035), and of these, 47.9% (164 of 342) also had genital GVHD. Patients with genital GVHD ultimately may require surgical management; 21.5% (22 of 103) of boys with genital GVHD ultimately required circumcision for phimosis, and 1 female patient developed hematocolpos necessitating surgical management. Our case series highlights the significant association between chronic oral GVHD and genital GVHD. Given the strong association between oral GVHD and genital GVHD in children, it is imperative to examine the genital area in all children on follow-up for chronic GVHD. Donor-recipient sex mismatch and use of PBSC grafts predispose to chronic genital GVHD. Early identification and treatment of genital GVHD may help prevent complications, including scarring and phimosis.