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Decades of clinical, pathological, and epidemiological study and the recent application of advanced microarray and gene sequencing technologies have led to an understanding of the causes and pathogenesis of most recognized patterns of malformation. Still, there remain a number of patterns of malformation whose pathogenesis has not been established. Six such patterns of malformation are sirenomelia, VACTERL association, OEIS complex, limb-body wall defect (LBWD), urorectal septum malformation (URSM) sequence, and MURCS association, all of which predominantly affect caudal structures. On the basis of the overlap of the component malformations, the co-occurrence in individual fetuses, and the findings on fetal examination, a common pathogenesis is proposed for these patterns of malformation. The presence of a single artery in the umbilical cord provides a visible clue to the pathogenesis of all cases of sirenomelia and 30%-50% of cases of VACTERL association, OEIS complex, URSM sequence, and LBWD. The single artery is formed by a coalescence of arteries that supply the yolk sac, arises from the descending aorta high in the abdominal cavity, and redirects blood flow from the developing caudal structures of the embryo to the placenta. This phenomenon during embryogenesis is termed vitelline vascular steal., (© 2021 Wiley Periodicals LLC.)

Objective: To characterize the anatomical features and clinical settings of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome and correlate them with patterns of uterine involvement., Methods: Pelvic magnetic resonance images and medical records of 92 MRKH patients were retrospectively reviewed. Patients were subgrouped by uterine morphology: uterine agenesis, unilateral rudimentary uterus and bilateral rudimentary uteri. Uterine volume, presence of endometrium, location of ovary, endometriosis and pelvic pain were compared among groups., Results: The mean uterine volume was 33.5 ml (17.5-90.0 ml) for unilateral uterine remnants, and 16.1 ml (3.5-21.5 ml) for bilateral uterine rudiments (p<0.01). The incidence of presence of endometrium (100% vs. 22%, p<0.001), haematometra (56% vs. 3%, p<0.001) and ovarian endometriosis (22% vs. 3%, p<0.01) was significantly increased in the group of unilateral rudimentary uteri as compared with the group of bilateral uterine remnants. Thirty-one patients (38%) showed ectopic ovaries. Pelvic pain was more common in individuals with unilateral rudimentary uterus than those who had no (56% vs. 5%, p<0.01) or bilateral uterine remnants (56% vs. 14%, p<0.05)., Conclusion: MRKH patients with different patterns of uterine involvement may have differentiated anatomical features and clinical settings., Key Points: • Rudimentary uteri, especially bilateral rudimentary uteri, were quite common in MRKH syndrome. • Uterine remnants can be relatively large, especially the unilateral rudimentary uterus. • Presence of endometrium and related complications are not rare in MRKH syndrome. • Existence of endometrium and complications are more frequent in unilateral rudimentary uterus.

Background: Turner syndrome is a common chromosomal disorder, with an incidence of 1 in 2000 live-born female infants. Mayer-Rokitansky-Küster-Hauser syndrome (MRKH) affects 1 in 4500 female births and, rarely, it might be associated with gonadal dysgenesis., Case: A 17-year-old girl was referred to our clinic with short stature and primary amenorrhea. The patient was diagnosed with Turner syndrome and underwent estrogen therapy. At the age of 24 years, just after the patient's sexual initiation, the first complete gynecological examination was performed. A blind-ending vagina was revealed and the patient was diagnosed with MRKH., Summary and Conclusion: Early diagnosis of coexistence of MRKH and Turner syndrome, although very difficult, might prevent patients from developing serious complications., (Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.)

We report on a pair of normally conceived monochorionic/dizygotic (MC/DZ) sex discordant twins. The comparison of blood and skin genotypes revealed that the chimerism was also present in the skin. We conjecture about the developmental origins of this case., (© 2015 Wiley Periodicals, Inc.)

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare developmental failure of Müllerian ducts. Principle clinical features of MRKH syndrome are primary amenorrhoea associated with congenital absence of vagina, uterine anomalies, normal ovaries, 46 XX karyotype with normal female secondary sexual characteristics and frequent association with renal, skeletal, and other congenital anomalies. A case of a 3-year-old child with congenitally absent thumbs and big toes is reported herein; she was brought in with complaints of urinary incontinence. Radiological investigation (ultrasound and magnetic resonance imaging (MRI) scan) revealed absent uterus and vagina while both ovaries were normal. Intravenous urography (IVU) study showed bifid pelvicalyceal systems bilaterally. Karyotyping revealed a 46 XX female phenotype. Laparoscopy confirmed normal ovaries bilaterally and small unfused uterine buds lying beside both ovaries on each side of pelvis. Early diagnosis of MRKH syndrome is essential for timely planning of vaginal and (if possible) uterine reconstructive surgeries.

Objective: To present female pseudohermaphroditism in a prenatally diagnosed cloacal malformation., Case Report: A 29-year-old, primigravid woman referred for counseling at 17 weeks of gestation because of oligohydramnios and an intra-abdominal cyst in the fetus. The woman was not exposed to any virilizing agent during this pregnancy. She did not undergo any assisted reproductive technology for this pregnancy. Level II ultrasound showed a singleton with fetal biometry equivalent to 16 weeks, oligohydramnios, hydrometrocolpos, dilated bladder, and bilateral hydronephrosis. A diagnosis of cloacal malformation was made. The parents elected to terminate the pregnancy at 18 weeks of gestation. A 196-g fetus was delivered with a distended abdomen, a phallus-like structure, a small perineal opening below the phallus-like structure, and an imperforate anus. At birth, the fetus was misdiagnosed as a male with an imperforate anus and a perineal fistula. Cytogenetic analysis of the cord blood revealed a karyotype of 46,XX. Array comparative genomic hybridization analysis of the fetal tissues revealed no genomic imbalance. The phallus-like structure was an enlarged clitoris and contained accessory phallic urethra., Conclusion: Prenatal diagnosis of cloacal malformation with ambiguous genitalia should be paid attention to avoid misdiagnosis of a male with an imperforate anus and a perineal fistula. Cytogenetic analysis is helpful to determine the sex under such circumstances., (Copyright © 2013. Published by Elsevier B.V.)

An 18 yr old female referred to us as hypertrophic obstructive cardiomyopathy with bicuspid aortic valve. On Initial history and examination patient also had primary amenorrhoea, differential cyanosis in lower limbs, differential clubbing, polydactyly, syndactyly, high arched foot, pectus carinatum and scoliosis. Oxygen saturation was 94% at room air and complete blood count was suggestive of polycythaemia (Hb 20 g/dl, Hct 60%, Tc-16500, RBC count--6.29 million/cumm, Platelet count--1,88000). Imaging studies were done, ultrasonography showed absent uterus, absent left kidney, right ectopic kidney.X-ray foot showed 6th metatarsal with phalanx. 2D ECHO was suggestive of Patent Ductus Arteriosus with reversal of shunt with severe aortic stenosis and bicuspid aortic valve. All these anomalies form part of a syndrome complex called MURCS ASSOCIATION (Mullerian agenesis/aplasia, renal anomalies, and Cervicothoracic Somite deformities).

Neuroglial heterotopia is a rare congenital anomaly that mostly involves the head and neck region. We report a female fetus with multicentric paraspinal neuroglial heterotopia in the retropharyngeal and retroperitoneal spaces, right renal agenesis, left renal hypoplasia, and Müllerian agenesis. Additional findings included bilateral preaxial polydactyly of the hands, megacystis, rectovesical fistula, and imperforate anus. The karyotype was 46, XX. This fetus had the features of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome with paraspinal neuroglial heterotopia. This is the first report of the co-occurrence of these two malformations which could share a common pathogenetic mechanism. We suggest this to be a variant MRKH syndrome., Virtual Slides: The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/3246922721015286.

Purpose: The aim of this study was to establish the role of magnetic resonance imaging (MRI) in patients with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS)., Materials and Methods: Sixteen female MRKHS patients (mean age, 19.4 years; range, 11-39 years) were studied using MRI. Two experienced radiologists evaluated all the images in consensus to assess the presence or absence of the ovaries, uterus, and vagina. Additional urogenital or vertebral pathologies were also noted., Results: Of the 16 patients, complete aplasia of uterus was seen in five patients (31.3%). Uterine hypoplasia or remnant uterus was detected in 11 patients (68.8%). Ovaries were clearly seen in 10 patients (62.5%), and in two of the 10 patients, no descent of ovaries was detected. In five patients, ovaries could not be detected on MRI. In one patient, agenesis of right ovary was seen, and the left ovary was in normal shape. Of the 16 cases, 11 (68.8%) had no other extragenital abnormalities. Additional abnormalities were detected in six patients (37.5%). Two of the six had renal agenesis, and one patient had horseshoe kidney; renal ectopy was detected in two patients, and one patient had urachal remnant. Vertebral abnormalities were detected in two patients; one had L5 posterior fusion defect, bilateral hemisacralization, and rotoscoliosis, and the other had coccygeal vertebral fusion., Conclusion: MRI is a useful and noninvasive imaging method in the diagnosis and evaluation of patients with MRKHS.

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome affects 1 out of 4500 women. It is characterized by the congenital absence of the upper third of the vagina, uterus and tubes; it is usually associated to renal malformations, and patients show normal phenotype and genotype. Age at diagnosis is between 15 and 18. A case is reported and a critical review of the information about the management alternatives of patients with MRKH syndrome available in medical literature is made. The paper is intended to help establish the best criteria and treatment options for a comprehensive therapeutic approach to MRKH patients.

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a spectrum of Müllerian duct anomalies characterized by congenital aplasia of the uterus and of the upper part (2/3) of the vagina, in young women presenting otherwise with normal endocrine status. The ovaries and fallopian tubes are present. It is one of the most common causes of primary amenorrhea and affects at least 1 out of 4500 women. Its penetrance varies, as does the involvement of other organ systems and itcan be isolated (type I) or associated with other malformations (type II). The MRKH syndrome usually remains undetected until the patient presents with primary amenorrhea despite normal development of secondary sexual characteristics, so imaging evaluation can demonstrate in one setting, non invasively, the anomalies in development of genital tract. We report a case of MRKH syndrome in a 16-year-old woman who presented with primary amenorrhea, stressing the role and benefit of imaging in the differential diagnosis.

The atypical and more severe form of Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) or MRKH type II is also known as MURCS association, an acronym meaning aplasia/hypoplasia of Müllerian ducts (MU), congenital renal dysplasia (R) and cervico-thoracic dysplasia (CS). It affects female patients with normal karyotype and ovarian function, evolving to primary amenorrhea. It has an incidence of 1:50,000, but it is underestimated due to late diagnosis and undefined etiology. We describe the cases of a child and an adolescent in order to predict the diagnosis even in childhood, before the onset of amenorrhea. Patients had in common renal malformation, agenesis or hypoplasia of Müllerian derivatives and vertebral anomalies, establishing the diagnosis of MURCS. The relevance of this paper is to show the importance of further investigation when some of pathologic signs are present, researching correlated abnormalities in order to establish an early diagnosis and consequently to provide guidance to the patients and their families about the best way to conduct the case, including genetic counseling.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare syndrome characterized by complete or partial agenesis of the uterus and vagina, due to a congenital defect of the Mullerian duct. Affected individuals have a 46,XX karyotype and a normal female phenotype. MRKH syndrome may be isolated (type I MRKH syndrome) or associated with renal, cardiac, and skeletal anomalies, short stature, and auditory defects. The latter is defined as type II MRKH syndrome or the Müllerian duct aplasia/hypoplasia, renal agenesis/ectopy, and cervicothoracic somite dysplasia (MURCS) association. The majority of patients with MRKH syndrome present with primary amenorrhea. We report a case of type II MRKH syndrome who has been referred by a pediatric surgeon for detection of gonadal function. During an inguinal hernia operation, the left ovary had been observed in the hernia sac. Clinical and radiological evaluation of the patient showed an absence of the uterus and left kidney, and cervical hemi vertebra. Based on these findings, the patient was diagnosed as having type II MRKH syndrome.

Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome consists of vaginal aplasia associated with other müllerian duct abnormalities. Its penetrance varies, as does the involvement of other organ systems. Type I MRKU syndrome is characterized by an isolated absence of the proximal two thirds of the vagina, whereas type II is marked by other malformations which include vertebral, cardiac, urologic (upper tract), and otologic anomalies. In both types, the extent of vaginal aplasia varies, ranging from virtually absent to a length much more inferior than the normal one (2-5 cm). MRKU syndrome usually remains undetected until the patient presents with primary amenorrhea despite normal female sexual development. It is important to underline the fact that this syndrome is the second most common cause of primary amenorrhea. Although this condition has psychologically devastating consequences, its anatomical defects can be surgically treated. In fact, following diagnosis, surgery allows patients to have normal sexual function while reproduction may be possible if assisted techniques are performed.

Objective: To report a patient with Mayer-Rokitansky-Kuster-Hauser syndrome with functional endometrium treated with preoperative continuous combined low-dose monophasic oral contraceptives., Design: Case report., Setting: University hospital., Patient(s): A 12-year-old nulligravid adolescent girl., Intervention(s): Preoperative continuous combined low-dose monophasic oral contraceptives for 7 months, and laparoscopic resection of the rudimentary uterus and uterine horns with unilateral salpingo-oophorectomy., Main Outcome Measure(s): Relief of pain after hormonal treatment and the operative procedure., Result(s): Successful preoperative treatment of endometriosis and pain before definitive diagnosis and removal of müllerian remnants in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome., Conclusion(s): Patients with obstructive müllerian malformations with functional endometrium can be preoperatively managed with continuous combined low-dose monophasic oral contraceptives to control pain and treat endometriosis. This may permit a delay in surgical intervention to facilitate other investigations and to allow thorough counselling of the patient and her family about the implications of the diagnosis., (Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

Objective: To compare different diagnostic procedures for staging malformations associated with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome., Design: Retrospective two-center cohort study (Canadian Task Force classification II-2)., Setting: University hospital., Patient(s): One hundred and thirty-eight women with MRKH., Intervention(s): Clinical examinations, abdominal or perineal/rectal ultrasound, magnetic resonance imaging (MRI), and laparoscopy., Main Outcome Measure(s): Agreement between the results obtained with the other methods and the results obtained with the reference methods for correct staging of malformations, presented as kappa values (κ)., Result(s): The VCUAM (vagina cervix uterus adnex-associated malformation) classification system was used to classify genital malformations in 138 women with MRKH. The reference methods for examining the individual organs were: vagina-clinical examination; cervix/uterus and adnexa-laparoscopy; and urinary tract malformations-MRI. The values obtained were as follows. Vagina was κ 0.74 for MRI versus clinical examination; ultrasound and laparoscopy did not allow adequate description of vaginal malformations. Cervical findings were rarely detailed with any of the imaging methods. Uterus was κ 0.93 for MRI versus laparoscopy, and κ 0.83 for ultrasound. For adnexa, only laparoscopy was able to describe the morphology adequately. The urinary tract was κ 0.87 for ultrasound versus MRI., Conclusion(s): For the correct staging of malformations associated with MRKH, MRI or a combination of clinical examination and ultrasound are equivalent. However, none of the imaging methods adequately describes adnexal morphology., (Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.)

We report a successful case of persistent urogenital sinus associated with a duplicated nonsyndromic form of hydrometrocolpos and ascites diagnosed prenatally. Though urogenital malformations are extremely rare and variable in presentation, the conjugation of those anomalies in a newborn is reported here for the first time. Prenatal ultrasound diagnosis was suspected at 25 weeks' gestation and MRI imaging supported the diagnosis. Periodic ultrasound surveillance was conducted until birth at 35 weeks' gestation by cesarean section. The presumptive diagnosis was confirmed after birth. One month later, the newborn underwent reconstructive surgical intervention with good outcome., (Copyright © 2010 S. Karger AG, Basel.)