Congenital imperforate hymen with hydrocolpos and hydronephrosis associated with severe hydramnios and increase of maternal ovarian steroidogenic enzymes.

STUDY OBJECTIVE To study clinical features of patient presented with severe hydramnios, associated with hydronephrosis, that was antenatally diagnosed and has been successfully treated immediately after birth. At a molecular level, we investigated the gene expression of key steroidogenic enzymes from the maternal ovary. DESIGN Ultrasound scan, MRI, semi-quantitative RT-PCR SETTING: The patient was admitted to the University Hospital, University of Crete, Medical School, Greece, where all clinical data has been obtained. Gene expression studies took place at Biosciences, Brunel University, UK. RESULTS Semi-quantitative RT-PCR analyses revealed that there is upregulation of key steroidogenic genes in the maternal ovary, including steroidogenic acute regulatory protein, and the cytochrome P450 heme-containing proteins CYP11A, CYP17 and CYP19. From a clinical perspective, the prenatal ultrasound scan and MRI findings showed a multicystic pelvic mass, bilateral hydronephrosis and prior to delivery severe polyhydramnios. CONCLUSION This clinical case is the only one that we have found in the current literature where congenital imperforate hymen accompanied with hematocolpos is associated with renal obstruction in combination with polyhydramnios and increase in maternal steroidogenic enzymes.