Congenital Adrenal Hyperplasia and Ohvira Syndrome: First Report of Unique Combination in a Child

ABSTRACT Objective: We present a unique case of congenital adrenal hyperplasia (CAH) combined with a rare Müllerian anomaly characterized by uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Methods: The clinical, laboratory, and imaging findings of the patient are presented with a review of the literature. Results: An 18-month-old girl diagnosed to have CAH due to 21-hydroxylase deficiency presented for reconstructive surgery of the clitoris and vagina. The patient was known to have right renal agenesis. Preoperative magnetic resonance imaging (MRI) showed unexpected uterus didelphys with obstructed right hemivagina. These findings, together with ipsilateral renal agenesis, constitute the obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome. To our knowledge, this combination of CAH and OHVIRA has not been reported. Conclusion: In the presence of urinary tract anomalies in patients with CAH, it is important to check for possible associated Müllerian anomalies, which could be accomplished by MRI. This may change the surgical approach and may reduce future morbidities in these patients. Abbreviations: CAH congenital adrenal hyperplasia MRI magnetic resonance imaging OHVIRA obstructed hemivagina and ipsilateral renal anomaly