Obstructed hemivagina and ipsilateral renal agenesis with intestinal malrotation.

The combination of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis represents a rare congenital anomaly called Herlyn-Werner-Wunderlich syndrome (HWWS) or obstructed hemivagina and ipsilateral renal anomaly (OHVIRA) syndrome. Several anomalies have recently been reported to be associated with this syndrome. The present patient with HHWS had multiple anomalies: intestinal non-rotation, anomalies of the large vessels of the abdomen including duplication of the inferior vena cava and a high-riding aortic bifurcation, and hypodontia.

OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary.

Context: Orthodenticle homeobox 2 (OTX2) is a transcription factor necessary for ocular and forebrain development. In humans, heterozygous mutations of OTX2 cause severe ocular malformations. However, whether mutations of OTX2 cause pituitary structural abnormalities or combined pituitary hormone deficiency (CPHD) has not been clarified.