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Congenital perineal hernia in a fetus with X monosomy

Congenital defects in the pelvis and perineal area, which are derived from defective development of the cloacal membrane, urorectal septum, mesonephric and paramesonephric (Müllerian) ducts, and urogenital sinus, have been described. Congenital pelvic floor hernias are extremely rare and most published cases involve adults and have occurred after surgery or in individuals with a weak pelvic floor; only a small number of cases of congenital perineal hernia in children have been described (Mohta and Bhargava 2004). Perineal hernias are divided into anterior and posterior, depending upon their relationship with the transverse perinei muscle. The anterior type emerges through the urogenital diaphragm in the triangle formed by the transverse perineal, ischiocavernous and bulbospongiosus muscles. These occur almost exclusively in women. The posterior type is less common and emerges through a defect in the levator ani muscle or between the levator ani and coccygeus muscles. Congenital defects causing primary hernia are extremely rare. The etiology of congenital perineal hernia is thought to be the persistence of a cul-de-sac descending into the perineum during embryonic life. A perineal hernia protrudes through the pelvic floor formed by the levator ani and coccygeus muscles along with their fascia. A woman was referred to us at 15 weeks of gestation in her first pregnancy. There was no history of teratological exposure or familial genetic condition. The maternal age was 25 years and the paternal age was 30 years. Ultrasonographic evaluation demonstrated the presence of nuchal cystic hygroma. The fetal karyotype was 45,X. After genetic counseling the couple decided to perform voluntary termination of the pregnancy. Fetal examination showed a perineal prolapse of multiple bowel loops (Fig. 1) without additional anomalies at fetal autopsy. The perineal defect was located between the vaginal orifice and the anus. The urinary bladder, vagina, and rectum were intact without fistulae. The herniated bowel consisted of small and large intestines. Turner syndrome (TS), occurs in approximately 50 per 100 000 girls, and is defined by a partially or completely absent X chromosome (Gravholt 2004). The majority of TS patients have a 45,X karyotype. Short or long arm deletion, ring X, isochromosome and mosaicism have been reported. Cardinal features include growth retardation and reduced adult height, with or without additional features, such as minor facial dysmorphism, associated anomalies, gonadal insufficiency and infertility (Gravholt 2004). Fetal perineal hernia has been recently reported for the first time in a fetus with trisomy 18 by Steffensen et al. (2009). Our case constitutes the first published case associated with monosomy X. The perineal defect, which led to bowel herniation may have been secondary to pressure necrosis of the perineal skin. As supposed by Steffensen et al. (2009) in a trisomy 18 fetus, a defect in the formation of the secondary perineum may be the etiological explanation of the reported congenital defect and may be the same etiological mechanism in our observed case.