Müllerian duct aplasia-renal aplasia-cervicothoracic somite dysplasia (MURCS) association is a unique development disorder with four common types of malformations that include uterine aplasia or hypoplasia, renal ectopy or agenesis, vertebral anomalies, and short stature. The majority of MURCS patients are diagnosed with primary amenorrhea from late-adolescence. However, a few cases with MURCS association are not well diagnosed during childhood and long-term outcomes are not well reported. We report a case of an 8-year-old girl with MURCS association who presented with recurrent urinary tract infections and multiple congenital malformations, and who was followed for 10 years until adulthood. MURCS association should be considered as one of the differential diagnoses when evaluating prepubertal females with vertebral and renal malformations.
Amenorrhea ; Child ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Somites ; Urinary Tract Infections

OBJECTIVE: To analyze magnetic resonance imaging (MRI) findings of Mullerian remnants in young females clinically suspected of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome in a primary amenorrhea workup. MATERIALS AND METHODS: Fifteen young females underwent multiplanar T2- and transverse T1-weighted MRI at either a 1.5T or 3.0T MR imager. Two gynecologic radiologists reached consensus decisions for the evaluation of Mullerian remnants, vagina, ovaries, and associated findings. RESULTS: All cases had bilateral uterine buds in the pelvic cavity, with unilateral cavitation in two cases. The buds had an average long-axis diameter of 2.64 +/- 0.65 cm. In all cases, bilateral buds were connected with fibrous band-like structures. In 13 cases, the band-like structures converged at the midline or a paramedian triangular soft tissue lying above the bladder dome. The lower one-third of the vagina was identified in 14 cases. Fourteen cases showed bilateral normal ovaries near the uterine buds. One unilateral pelvic kidney, one unilateral renal agenesis, one mild scoliosis, and three lumbar sacralization cases were found as associated findings. CONCLUSION: Typical Mullerian remnants in MRKH syndrome consist of bilateral uterine buds connected by the fibrous band-like structures, which converge at the midline triangular soft tissue lying above the bladder dome.
Abnormalities, Multiple/*pathology ; Adolescent ; Adult ; Female ; Humans ; Kidney/abnormalities/pathology ; Magnetic Resonance Imaging/*methods ; Middle Aged ; Mullerian Ducts/abnormalities/pathology ; Retrospective Studies ; Somites/abnormalities/pathology ; Spine/abnormalities/pathology ; Uterus/abnormalities/pathology ; Vagina/abnormalities/pathology

BACKGROUNDIn the past several decades we have seen multiple advances in the reconstruction for girls born with vaginal agenesis. This study aimed to evaluate the technical feasibility, anatomical and functional outcomes of one-stage laparoscopic and gasless laparoscopic vaginoplasty with sigmoid colon for the patients of vaginal agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome).

METHODSWe did a retrospective review of a total of 150 women with Mayer-Rokitansky-Kuster-Hauser syndrome treated at Beijing Anzhen Hospital, Capital Medical University from March 2006 to August 2010. The patients were divided into the CO2 pneumoperitoneum laparoscopic group and the abdominal wall lift of gasless laparoscopic group. Sigmoid colon vaginoplasty approaches were performed in all of the patients. The surgical techniques, perioperative results, complications, anatomical and functional outcomes of vaginoplasty were recorded.

RESULTSAll procedures were performed successfully. Significant differences in the operative time and intraoperative blood loss existed in the laparoscopic vaginoplasty group compared with the gasless laparoscopic vaginoplasty group. The patients who underwent sigmoid colon vaginoplasty had good cosmetic results without the problem of excessive mucus production. The postoperative complications were minimal. During a mean follow-up of 15.6 months, no stenosis or shrinkage was encountered. The subjective sexual satisfaction rate with the surgical outcomes in all patients was 83.3%.

CONCLUSIONSLaparoscopic or gasless laparoscopic vaginoplasty with sigmoid colon are effective and feasible approaches for women with congenital vaginal agenesis. The procedures have satisfactory anatomical and functional results.

46, XX Disorders of Sex Development ; surgery ; Abnormalities, Multiple ; surgery ; Adult ; Colon, Sigmoid ; surgery ; Congenital Abnormalities ; Female ; Humans ; Kidney ; abnormalities ; Laparoscopy ; methods ; Mullerian Ducts ; abnormalities ; Pneumoperitoneum ; Postoperative Complications ; Retrospective Studies ; Somites ; abnormalities ; Spine ; abnormalities ; Uterus ; abnormalities ; surgery ; Vagina ; abnormalities ; surgery ; Vaginal Diseases ; surgery ; Young Adult

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder characterized by the congenital absence or hypoplasia of the uterus and the upper two thirds of the vagina due to mullerian duct malformation during embryogenesis. MRKH syndrome usually presents as primary amenorrhea in adolescence in females showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. For this reason, MRKH syndrome usually remains undiagnosed until primary amenorrhea or difficulty in sexual intercourse occurs. In this study, a case of MRKH syndrome diagnosed in a child with idiopathic precocious puberty is reported.
Abnormalities, Multiple ; Adolescent ; Amenorrhea ; Child ; Coitus ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Embryonic Development ; Female ; Humans ; Karyotype ; Kidney ; Mullerian Ducts ; Pregnancy ; Puberty, Precocious ; Somites ; Spine ; Uterus ; Vagina

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare congenital disorder characterized by the congenital absence or hypoplasia of the uterus and the upper two thirds of the vagina due to mullerian duct malformation during embryogenesis. MRKH syndrome usually presents as primary amenorrhea in adolescence in females showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. For this reason, MRKH syndrome usually remains undiagnosed until primary amenorrhea or difficulty in sexual intercourse occurs. In this study, a case of MRKH syndrome diagnosed in a child with idiopathic precocious puberty is reported.
Abnormalities, Multiple ; Adolescent ; Amenorrhea ; Child ; Coitus ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Embryonic Development ; Female ; Humans ; Karyotype ; Kidney ; Mullerian Ducts ; Pregnancy ; Puberty, Precocious ; Somites ; Spine ; Uterus ; Vagina

PURPOSE: Various operations have been proposed to compensate for congenital absence of the vagina using ileal or colonic interposition. These methods involve laparotomy, which shows postoperative complications such as long scar and delayed recovery. One case of neovagina reconstruction with laparoscopic rectosigmoid colpopoiesis in Mayer-Rokitansky-Kuster-Hauser syndrome is presented to avoid laparotomic complications. METHODS: Laparoscopic surgery was performed in a 27-year-old MRKH syndrome patient. After a cruciate incision, blunt dissection through two-finger wide space was created between the bladder and the rectum. A 14-cm rectosigmoid segment vascularized by a branch of sigmoid artery was isolated by laparoscopy. The distal end was sutured with vaginal vestibule mucosa. A continuity of intestine was restored by circular end-to-end proximate curved intraluminal stapler CDH29(R) through perineal opening. RESULTS: Total operation time was 4 hr 15 min. Normal walking and ingestion were possible within 3 days and 4 days after surgery. The hospital stay was 7 days and the patient was followed up for 6 months. The neovaginal introitus was wide enough for inserting two fingers, and there has been no narrowing of the neovagina on palpation as confirmed by vaginogram. The patient had functional self-lubricating neovagina without excessive mucous production or the need for routine dilation or unnoticeable scar. CONCLUSION: The successful result of this laparoscopic vaginal reconstruction technique with rectosigmoid segment suggests that this technique can be considered for the option of vaginal reconstruction in girls with the MRKH syndrome.
Abnormalities, Multiple ; Adult ; Arteries ; Cicatrix ; Colon ; Colon, Sigmoid ; Eating ; Fingers ; Humans ; Intestines ; Kidney ; Laparoscopy ; Laparotomy ; Length of Stay ; Mucous Membrane ; Mullerian Ducts ; Palpation ; Postoperative Complications ; Rectum ; Somites ; Spine ; Urinary Bladder ; Uterus ; Vagina ; Walking

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part of the vagina in women showing normal development of secondary sexual characteristics and a normal 46, XX karyotype. MRKH syndrome usually remains undetected until the patient presents with primary amenorrhea despite normal female sexual development. MRKH syndrome is the second frequent cause of primary amenorrhea. There have been several reports concerning gynecologic disease in MRKH syndrome, but there has been few case about MRKH syndrome with gonadal agenesis. We report an exceptional association between bilateral ovarian agenesis 46,XX and MRKH syndrome. A 27-year-old woman who presented with primary amenorrhea and absence of secondary sexual development. She had normal, 46XX karyotype, but no upper vagina, uterus and both ovary. And there was no urogenital and skeletal malformation. She was diagnosed as the atypical form of MRKH syndrome (bilateral gonadal agenesis 46 XX).
Abnormalities, Multiple ; Adult ; Amenorrhea ; Female ; Genital Diseases, Female ; Gonadal Dysgenesis ; Gonads ; Humans ; Karyotype ; Kidney ; Mullerian Ducts ; Ovary ; Sexual Development ; Somites ; Spine ; Uterus ; Vagina

OBJECTIVE: To investigate the clinical characteristics and reproductive outcomes of women with Mullerian anomalies. METHODS: One hundred and eighty-six patients were diagnosed with Mullerian anomalies at the Asan Medical Center from 1990 to 2009 and their clinical characteristics and reproductive outcomes were analyzed. Mullerian anomalies were categorized according to the classification by the American Fertility Society (1988). RESULTS: Mullerian anomaly was noticed in 1 in 1,326 patients (0.075%). Most cases were found in adulthood (84.9%) whereas only 15.1% cases in adolescent or pediatric period. More than 40% of cases were asymptomatic and found incidentally but others suffered from amenorrhea (12.4%), dysmenorrhea (10.8%), abnormal menstruation (10.2%), etc. Most common type of uterine anomalies was uterine didelphys (30.6%), followed by bicornuate uterus (19.4%), Mayer-Rokitansky-Kuster-Hauser syndrome (10.8%), septate uterus (9.1%) and unicornuate uterus (8.6%). On the reproductive outcomes of 251 pregnancies identified, spontaneous miscarriages and preterm labor were quite common (55.8%), and the overall live birth rate was 48.6%. When each anomaly was individually analyzed, the live birth rate was 60.0% in the arcuate uterus and 58.0% in the uterine didelphys. The unicornuate and bicornuate uterus presented a similar chance of having a living child (42.1%, 46.7%), while the septate uterus showed a relatively lower live birth rate (32.4%). CONCLUSION: Although most cases of Mullerian anomalies are diagnosed in adulthood, many patients may suffer from menstrual abnormalities, dysmenorrhea or recurrent miscarriages since adolescence. The reproductive outcomes of the arcuate uterus and uterine didelphys were better, while those of septate uterus were poor in our study.
Abnormalities, Multiple ; Abortion, Habitual ; Abortion, Spontaneous ; Adolescent ; Amenorrhea ; Child ; Dysmenorrhea ; Female ; Fertility ; Humans ; Kidney ; Live Birth ; Menstruation ; Mullerian Ducts ; Obstetric Labor, Premature ; Pregnancy ; Somites ; Spine ; Urogenital Abnormalities ; Uterus ; Vagina

Vaginal agenesis is rare gynecologic condition, and the most common etiology is Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome, characterized by the absence of uterus and vagina and presence of normal ovaries and tubes. In such patients, the evaluation for associated malformations as well as careful non-surgical and surgical approach are essential. The neovaginoplasty is an important issue for these patients in regard of functional and psychological standpoint. There are many options available for creation of neovagina. We report six cases of laparoscopic assisted neovaginoplasty using pelvic peritoneal flap.
Abnormalities, Multiple ; Female ; Humans ; Kidney ; Laparoscopy ; Mullerian Ducts ; Ovary ; Somites ; Spine ; Uterus ; Vagina

It is known that radiation can induce various kind of mutations, cancers and congenital malformations. Day 9 rats embryos were cultured by whole embryo culture method and irradiated 0.1, 0.5, 2 and 5 Gy at day 10 to study the effect of radiation on the development of rat embryos. Haversting after 48 hours culture, the morphological changes and apoptosis were investigated. In addition, we assessed the expression patterns of p53, WAF1, Bcl -2, Bcl -x and Bax. Compared to the control group, no remarkable morphological changes were observed in the low dosage group (0.1 and 0.5 Gy). But at high dosage group (2 and 5 Gy), growth was retarded and the heart beats were weak. The crown rump length, the number of somites, and branchial arch were decreased and the rotation of embryo and development of otic pit and lens pit, and upper limb bud was delayed significantly. Especially in the 5 Gy group the most of external morphology were difficult to discriminate. In histological observations, high dosage group showed marked increase in the number of apoptotic bodies in the optic cup, trigeminal ganglion, pharyngeal arches, heart and small intestine. In western blot analysis, Bcl -x and Bax were not expressed in all groups. Expression level of Bcl -2 was constant regardless of the amount of radiation. Expression level of p53 and WAF1 increased significantly in accordance with the increasing amount of radiation. Especially, WAF1 was expressed 7.2, 6.3, 9.9 and 11.3 folds more than the control groups when embryos were exposed to 0.1, 0.5, 2 and 5 Gy, respectively. Considering WAF1 arrests cell cycle, we concluded that cell cycle was affected most sensitively to radiation injury. From these results, radiation showed growth retardation, decrease in protein synthesis, increase in apoptosis and expression of related genetic materials. These results may be used as a standard to test the effect of drugs for reducing and protecting agents against deterious effect of radiation in developing embryo and fetus.
Animals ; Apoptosis ; Blotting, Western ; Branchial Region ; Cell Cycle ; Crown-Rump Length ; Embryonic Structures* ; Fetus ; Heart ; Intestine, Small ; Radiation Injuries ; Rats ; Somites ; Trigeminal Ganglion ; Upper Extremity