AbstractIntroduction: Charge syndrome is a rare genetic disorder caused due to mutation in CHD7 gene and characterised by the presence of multiple
congenital defects. Congenital genital defect is a minor abnormality of this syndrome. Here we are reporting a very rare case of Charge syndrome with vaginal atresia where vaginoplasty was done with
uterovaginal tract recanalisation.
Case: A 15yr old girl presented with complaintsof primary amenorrhoea and cyclical crampy lower abdominal pain for 7 months. It was also found that she had a poor scholastic performance, reduced vision in her left eye and difficulty in hearing sinceher childhood which however was unevaluated. Her cardio vascular system examination revealed
pansystlic murmur. The ECHO cardiogram suggested a large restrictive ostium secundum atrial septal defect (ASD) with mild tricuspid regurgitation (TR) & mild pulmonary artery hyperplasia (PAH).
Ultrasonography (USG) showed collections inside the uterine cavity suggestive of hematometra and examination of external genitalia revealed the presence of a blind vaginal pit suggestive of vaginal
atresia. Presence of all the above clinical findings directed towards further evaluation which further revealed presence of multiorgan defects fullfilling all the criteria of Charge syndrome. She underwent
ASD closure followed by Mc Indoe’s vaginoplasty successfully.
Conclusion: While approaching a patient with multiorgan/multisystem abnormalities, a keen observation of its relation to any syndrome paves
a path for its easy management, by prioritizing the immediate treatment and interval treatment. A multidisciplinary approach is always prudent.
Vaginal atresia with presence of uterus could be managed successfully by surgical intervention, amongst which Mc Indoe’s vaginoplasty may be
preferred over other techniques.