Congenital scoliosis associated with agenesis of the uterine cervix. Case report

BACKGROUND: Alterations in the normal sequence of development of müllerian ducts lead to a wide spectrum of reproductive tract abnormalities. A rare form of lack of development, regarding a short tract of the müllerian ducts, leads to the isolated agenesis of the uterine cervix. Anomalies identified among patients with müllerian agenesis include skeletal deformities (i.e., scoliosis of the spine and Klippel-Feil anomaly). CASE PRESENTATION: A 46 years old woman presenting cyphoscoliosis and very low stature (120 cm – 3,93 feet), came to our observation for acute pelvic pain; she also reported primary amenorrhoea associated with cyclic pelvic pain. Clinical and imaging evaluation, evidenced a blind vaginal duct of normal length, left cystic adnexal mass, and enlarged uterus with hematometra. FSH, LH, 17β estradiol and CA-125, karyotype and radiographic study of limbs and vertebral column were also evaluated. At laparotomy, a left ovarian cyst was found. Uterus ended at the isthmus; under this level a thin fibrous tissue band was found, joining the uterus to the vagina. Uterine cervix was replaced by fibrous tissue containing some dilated glands lined with müllerian epithelium. Karyotype resulted 46, XX. The described skeletal deformity, were consistent with Klippel-Feil syndrome. CONCLUSION: We report a case of congenital scoliosis associated with müllerian agenesis limited to uterine cervix, association thus far seen only among patients with Mayer-Rokitansky-Kuster-Hauser syndrome (utero-vaginal agenesis). This case report supports the necessity to evaluate, for accompanying müllerian anomalies, all cases of congenital structural scoliosis in view of the possibility for many müllerian development abnormalities, if timely diagnosed, to be surgically corrected

The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina) – phenotypic manifestations and genetic approaches

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects at least 1 out of 4500 women and has for a long time been considered as a sporadic anomaly. Congenital absence of upper vagina and uterus is the prime feature of the disease which, in addition, is often found associated with unilateral renal agenesis or adysplasia as well as skeletal malformations (MURCS association). The phenotypic manifestations of MRKH overlap various other syndromes or associations and thus require accurate delineation. Since MRKH manifests itself in males, the term GRES syndrome (Genital, Renal, Ear, Skeletal) might be more appropriate when applied to both sexes. The MRKH syndrome, when described in familial aggregates, seems to be transmitted as an autosomal dominant trait with an incomplete degree of penetrance and variable expressivity. This suggests the involvement of either mutations in a major developmental gene or a limited chromosomal deletion. Until recently progress in understanding the genetics of MRKH syndrome has been slow, however, now HOX genes have been shown to play key roles in body patterning and organogenesis, and in particular during genital tract development. Expression and/or function defects of one or several HOX genes may account for this syndrome

HEARING-LOSS AND THE MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME

The hearing of 51 female patients with the Mayer-Rokitansky-Kuster-Hauser syndrome was examined using otoscopy and standard audiometry. A unilateral or bilateral hearing loss of more than 15 dB Fletcher index was found in 13 of 51 (25.5%). Four of these 13 patients had a hearing loss of less than 20 dB in the worst ear. The remainder had a hearing loss of at least 30 dB in the worst ear. Five of the 13 patients had pure conductive hearing loss; in four of these five, a congenital origin was accepted. Two of the 13 had mixed hearing loss that was a residual symptom from previous otitis media; six had sensorineural hearing loss. A congenital cause was found in one of these six, based on the fact that she had been deaf and dumb since birth. In one other patient, noise-related deafness was likely (i.e., an acquired cause). In the other four cases in this group, the cause was unknown. The results of this study show that hearing loss is a characteristic associated with the Mayer-Rokitansky-Kuster-Hauser syndrome