Clinical features and desicion making of congenital vaginal agenesis combined with cervical aplasia: Case report and literature reviews

Congenital complete vaginal atresia with cervical aplasia is a rare obstructive reproductive tract malformation.We present clinical case of 12 years old girl genetic KBG Syndrome, admitted in the Pediatric Unit acute recurrent abdominal pain, vomiting and dehydratation.Written informed consent was obtained from patient parents for publication this report. The local institutional review board exempted our need approval.KBG Syndrome congenital neurodevelopmental disorder characterized by macrodontia incisors, neurological delay, craniofacial anomalies, low stature, among other conditions. physical examination showed pubertal development Tanner 4, vulva Pubarca normo-inserted urethral meatus, absent opening, negative swab test, primary amenorrhea. An MRI performed result which was: agenesis, septate uterus aplasia, hematómetra hematosalpinx. open Hysterectomy decided context pain risk endometriosis infection. evolved favorably returning home few days.According to bibliographic review, hysterectomy recommended cord because high stenosis. vaginoplasty be late adolescence or young adulthood when mature enough agree procedure. Considering most included studies it speculated that preservation may feasible patients external obstruction. Gynecologists tried preserve fertility but sample size small. More quality controlled multicenter trials longer follow-up are needed further assessment. malformation. We dehydratation. Written approval. days. According 1. Mei L, Zhang H, Chen Y, et al: Clinical features combined aplasia: A retrospective study 19 literature review. Congenit Anom (Kyoto) 2021; 61:1272. Dietrich JE, Millar DM, Quint EH: Obstructive anomalies. J Pediatr Adolesc Gynecol 2014; 27:3963. Gasim T, Al Jama FE: Massive hematometra due cervicovaginal agenesis an adolescent treated hysterectomy: Case Rep Obstet 2013; 2013:6402144. Jennifer E. MD, Debra M, Committee Opinion NASPAG 2014. North American Society Adolescent Gynecology5. Morel Swols D, Tekin M: Syndrome. In: GeneReviews. Edited Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A. Seattle (WA), University Washington, 2018, pp 1993–2022