Congenital Imperforate Hymen with Hydrocolpos and Hydronephrosis associated with Severe Hydramnios and Increase of Maternal Ovarian Steroidogenic Enzymes

Abstract

Abstract. Study Objective: To study a 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.

Fetal hydrometrocolpos and congenital imperforate hymen: Prenatal and postnatal imaging features

“…There are two types of hydrometrocolpos: the urinary type, which is often associated with a persistent urogenital sinus or cloacal anomaly (cloacal dysgenesis), and the secretory type, in which a large amount of mucoid material collects in the genital tract as a result of excessive secretion by the uterine glands in response to maternal estrogenic hormones. 5 In the reported cases of hydrometrocolpos secondary to isolated congenital imperforate hymen, the prenatal US findings have been well described. [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] There is a pear-shaped cystic mass with fluid-debris level between the bladder and the rectum.…”

“…4 Vaginal obstruction and accumulation of fluid in the genital tract leads to distension of the vagina and uterus. [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23] There is a pear-shaped cystic mass with fluid-debris level between the bladder and the rectum. 5 In the reported cases of hydrometrocolpos secondary to isolated congenital imperforate hymen, the prenatal US findings have been well described.…”

Prenatal diagnosis of a paraurethral cyst

“…In utero exposure to maternal estrogen in the perinatal period may have clinically apparent effects on the fetus and neonate, including breast swelling and withdrawal bleeding. Elevated maternal estrogens have been associated with imperforate hymen [13]; neonatal paraurethral cysts with concurrent vaginal bleeding and breast development have been reported [3]. While our case did not demonstrate associated vaginal bleeding or breast development, it did arise in a twin pregnancy arising from in vitro fertilization with potentially higher maternal estrogen level exposure.…”

Successful management of giant hydrocolpos in a limited-resource setting

“…If only the vagina or the uterus is distended independently, it is called hydrocolpos or hydrometra, respectively. This condition occurs when uterine and cervical glands stimulated by maternal estrogen in utero or by withdrawal of hormones after birth, secrete mucus in the presence of distal vaginal obstruction [ 3 ]. The clinical manifestations include abdominal distention and symptoms due to compression of bladder, bowel or pelvic veins.…”