Stapedial Ankylosis in the Mayer-Rokitansky-Kuster-Hauser Syndrome

Abstract

I e describe a 21-year-old woman with congenital unilateral conductive hearing loss and an atypical form of the Mayer-Rokitansky-Ktister-Hauser syndrome. To our knowledge, this is the first reported case of this syndrome in which surgery for congenital stapedial ankylosis was successful, Besides aplasia of the vagina and uterus, the patient also had various other anomalies, such as the Klippel-Feil syndrome, Sprengel's defor mity, and congenital stapedial ankylosis. Congenital hearing loss is an associated characteristic of the Mayer-Rokitansky-Kuster-Hauser syndrome (10% to 20% of cases), particularly in the atypical form. Against the background of the favorable results of surgery for isolated unilateral congenital stapedial ankylosis and other unilateral congenital anomalies of the middle ear that have been de scribed in the literature and the significant advantages of bilateral hearing, we used stapedectomy to successfully treat this case of Mayer-Rokitansky-Ruster-Hauser syndrome with unilateral congenital stapedial ankylosis. (Arch Otolaryngol Head Neck Surg. 1995;121:800-803) ARCH OTOLARYNGOL HEAD NECK StJRG/VOL 121, JULY 190: 800 * 5 1. Chorvonak FA, Stangai JJ, Nomee M, Amin HK. Mayor-Rokltansky-Küstor-Hauser syndrome: con genital absonco of vagina. N Y Stated Med. 1982; 82:23-26, 2. Griffin JE, Edwards C, Madden JO, et al. Con* gonfiai absence of tho vagina; the Mayer-Rokltansky-Kuoster-Hausor syndrome. Ann /fi* torn Mod. 1976;85:224-236. 3. WIDomsen WNP, Noovaglnaplasllok met perito' noumtrmposltio. Nijmegen, tho Netherlands: Uni versity of Nijmegen; 1982. Thesis. 4. Wlllamsen WNP, Dony JMJ. Een cioconnlum er varing mot do bohandeflng van hypo* en aplasia van do vagina mot de noovaolnaplastlok voi* t M m ARCH OTOLARYNGOL HEAD NECK SlJltti/VOL 121, JULY W 5 802

Mayer-Rokitansky-Kuster-Hauser syndrome with H-type anovestibular fistula

“…Associated congenital anomalies of the upper urinary tract have been reported in about 30% to 40% of the cases, and these may be renal agenesis, ectopic, fused, or horseshoe kidneys [5]. Auditory defects are associated with 10% to 25% of patients with Müllerian aplasia, renal aplasia, and cervicothoracic somite dysplasia association, which can be conductive deafness because of fixation of ossicular chain, atresia of external auditory canal, or sensorineural defects of varying severity [7]. Vertebral anomalies are also found in 10% of the patients.…”

Study of frequency and types of chromosomal abnormalities in phenotypically female patients with amenorrhea in Eastern Indian population

“…Pioneering studies were conducted in this field. [48][49][50][51][52] The estimated frequency of chromosomal abnormalities, especially in sex chromosomes, widely varies from 15.9% to 63.3% in cases of PA, with the majority falling between 20% and 30%. For SA even a wider variation ranges from 3.9% to 44.4% is reported.…”

“…Menstruation and fertility are very rare in these patients; however, three percent of patients reported having spontaneous menarche, and very few classical TS cases show apparently normal secondary sexual characters, which may result from a hidden mosaic pattern (Ferguson-Smith, 1965). Gonadal dysgenesis in most of these cases unavoidably leads to PA. 48,73 Some Turners suffer from cardiac and renal anomalies. Ear abnormalities and hearing impairment are common in TS cases.…”

Genetics of Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome

“…Auditory defects or deafness are observed with variable severity in 10–25% of MRKH/MURCS patients (Table ) . These often consist of conductive deafness due to middle ear malformations, such as stapedial ankylosis, or sensorineural defects.…”