A trauma perspective on a case of Mayer-Rokitansky-Kuster-Hauser Syndrome presenting with major depression with psychosis

@#The psychological impact of the diagnosis of congenital anomalies is an area with limited research; and more limited still when such congenital anomalies are not very obvious. MayerRokitansky-Kuster-Hauser (MRKH) syndrome can be one of those less apparent congenital anomalies. Owing to their inability to bear children, women confronted with the diagnosis of MRKH can be left stressed, or worse, traumatized by the fact that they can no longer function in their traditional gender roles. This may leave any individual wanting to deny the diagnosis or even withhold such information. And the experience is a fertile ground for the development of any mental illness. MRKH occurs in every 1 out of 4000-5000 females. Although the psychological impact of stress is a well –established fact, there are fewer literature on the possible genetic link of MRKH and mental illness, the psychodynamic underpinnings and the similarities to trauma of the diagnosis of MRKH, in particular. We present here a case of MRKH syndrome with an initial presentation of major depression and psychosis; with the diagnosis of MRKH initially withheld from the resident psychiatrist. We would also want to highlight a trauma perspective of the case presented as well as to emphasize the need for more research congenital anomalies are accompanied by co-morbid psychiatric illnesses.

Flaps versus skin grafts in neovagina creation for vaginal agenesis

Background: Women with congenital uterovaginal agenesis have normal development of all secondary sexual characteristics. They face the cruel fact of being unable to bear children and enjoy sexual satisfaction. Good neo vaginal reconstruction is important in improving functional and psycho social impacts to womanhood. The aim of the study was to compare the three commonly done surgical procedures for vaginal reconstruction.Methods: All the vaginal agenesis patients who attended Department of plastic surgery Madras Medical College, Chennai during the period from August 2004 to April 2007 were included in our study.Results: In Abbe McIndoe procedure, graft take was full in all 7 cases with good cosmetic appearance. Flaps survived in all 10 patients underwent pudendal thigh flap surgery. 2 patients underwent horse shoe shaped labia minora flaps. The cosmetic appearance was fair because of the distortion of the labia. The mean vaginal depth obtained was 8 cm and width was 2 cm.Conclusions: Cosmetic appearance was good in patients who underwent McIndoe procedure as the genitalia were not distorted. Contracture rate was more in patients who underwent McIndoe procedure especially who were irregular in using stents. Flap procedure especially pudendal thigh flaps which has the least contraction rate is the preferable treatment option for such patients.

A clinical study of modified McIndoe vaginoplasty with split thickness skin graft: a tertiary care experience

Background: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is associated with failure of fetal mullerian-duct development that results in congenital deficiency of the upper part of the vagina with a rudimentary-to-absent uterus. These patients have primary amenorrhoea, infertility as well as insufficient sexual gratification. Although conception can be dealt with IVF and surrogacy but at least by doing neovaginal construction by McIndoe vaginoplasty, these patients have acceptable sexual life and intercourse. The main objective of this study was creating a neovagina leading to a satisfactory sexual life.Methods: Modified McIndoe vaginoplasty with split thickness skin graft, was done in seven patients with MRKH syndrome from 2014-2017 and these patients were followed till 2019. All patients had detailed counselling regarding the surgery, the complications involved and the outcome. Thorough investigations were done in all the patients.Results: The functional results were satisfactory in all the seven patients. There was no blood transfusion requirement or any serious complication involved. An average vaginal length of 7-9 cm and vaginal width of 3-4 cm was achieved. Donor site healing was adequate in all patients with no complications.Conclusions: Modified McIndoe vaginoplasty, if performed with good surgical skills, is a secure and beneficial way to achieve sexual contentment in patient with vaginal agenesis, with no donor site complications.

Reproductive potential in a case of Mosaic Turners syndrome with 46XY karyotype

This article describes a case of 18year-old-female who presented with primary amenorrhea, phenotypic features of Turners syndrome, which was confirmed later by Karyotype to have mosaic 45XO(8)/46XY(22). She had delayed puberty and proved (hormonally) to have ovarian failure, with absent Mullerian structures (radiologically and laparoscopy).

Adenomyosis in Mayer-Rokitansky-Kuster-Hauser Syndrome / Philippine Journal of Obstetrics and Gynecology

@#Mayer-Rokitansky-Kuster-Hauser syndrome, the second most common cause of primary amenorrhea, is a congenital anomaly caused by defective Mullerian duct development. It is the absence of uterus, cervix and upper two thirds of the vagina that results in primary amenorrhea. This is a case of a 42-year-old, nulligravid with primary amenorrhea complaining of acute abdominal pain. She has no co-morbidities or previous surgeries. Examination revealed an absent cervix and a left adnexal mass. Ultrasonography revealed an atrophic uterus with no endometrial stripe and cervix, with possible ovarian tumor versus myoma. Impression was mullerian agenesis with pelvoabdominal mass in torsion. She then underwent total abdominal hysterectomy with bilateral salpingectomy and adhesiolysis. Intraoperatively, there were two hemiuteri connected by a fibromuscular stalk. Left hemiuterus was dextrorotated, adherent to the sigmoid mesentery and peritoneum. Histopathology confirmed absence of endometrial cavity but with adenomyosis in bilateral uterine buds. Chromosomal analysis confirmed 46, XX karyotype.

Clinical value of MRI in patients with MRKH syndrome / 实用放射学杂志

Objective To evaluate the accuracy of preoperative MRI in the diagnosis of malformations associated with MRKH syndrome and identification of uterine endometrium to optimize the clinical management.Methods 1 8 females with primary amenor-rhea were studied with MRI performed with a 1.5T or 3.0T imager.All patients were examined in the supine position using a phased-array coil and underwent pelvic MRI.Two experienced radiologists evaluated all the examinations in consensus to assess the pres-ence,position and morphology of vagina,uterus,ovaries and any pelvic abnormalities.Results One or two rudimentary uteri were identified in 17 patients (94.4%).A total of 16 patients (88.9%)had bilateral rudimentary uteri,1 (5.6%)had unilateral rudimentary uteri(it was left sided).1 (5.6%)had no uterine remnants.4 (12.1%)of 33 uterine buds in 4 patients showed differentiation of the center of the uterus into three layer.Bilateral ovaries were present in 1 7 patients,and their shapes,sizes and signals are normal.The vagina and cervix were absent in all cases.Conclusion MRI is a useful diagnostic tool in the preoperative evaluation of MRKH syndrome and the endometrium to further optimize the treatment plan.

A successful laparoscopic neovaginoplasty using peritoneum in Müllerian agenesis with inguinal ovaries accompanied by primary ovarian insufficiency

The combination of Müllerian agenesis with inguinal ovaries accompanied by primary ovarian insufficiency is extremely rare. A 21-year-old Korean woman was referred to our center with primary amenorrhea. The patient was diagnosed with Müllerian agenesis with inguinal ovaries. Her hormonal profile showed hypergonadotrophic hypogonadism suggesting primary ovarian insufficiency. We performed laparoscopic neovaginoplasty using modified Davydov's procedure and reposition inguinal ovaries in the pelvic cavity. Oral estrogen replacement was applied for the treatment of primary ovarian insufficiency. This is a rare case report on Mayer-Rokitansky-Kuster-Hauser syndrome accompanied not only by inguinal ovaries but also with primary ovarian insufficiency. We present our first experience on the laparoscopic neovaginoplasty performed on the patient with müllerian agenesis accompanied by inguinal ovaries and primary ovarian insufficiency.

Mayer-Rokitansky-Kuster-Hauser Type I Syndrome - A Case Report.

Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome is not uncommon as this is a part of the Mullerian agenesis. This is usually diagnosed during adolescent period when signs and symptoms of the ongoing changes in female body type are delayed. We present 17 years old adolescent female who presented with primary amenorrhoea as the normal menstruation did not start at puberty. She was diagnosed as MRKH Type I Syndrome on the basis of radiological investigations.

Müllerian agenesis in the presence of anorectal malformations in female newborns: a diagnostic challenge

Rectovestibular fistula is the most common type of anomaly found in a female newborn with anorectal malformation. However, when the baby is found to have two orifices in the introitus, rectovaginal fistula is much less common and suspected. The rare differential diagnosis of Müllerian agenesis, a condition in which the rectum shifts anteriorly and the vagina is absent, is seldom considered. In many cases, the diagnosis of Müllerian agenesis is made only during definitive anorectoplasty. In view of its impact on management, a proper examination under anaesthesia, imaging studies and a diagnostic laparoscopy may be required to confirm the presence or absence of Müllerian structures in such patients. We herein describe a patient with the rare coexistence of VACTERL association and Müllerian agenesis, and discuss the management of anorectal malformations in female patients with Müllerian agenesis.

A Rare Case Of Mullerian Anomaly- (HEMATOMETRA With Cervical Agenesis)

Cervical Agenesis is a relatively infrequent mullerian anomaly. Sixteen years old, unmarried girl presented to ELMC&H Lucknow, with complaints of primary amenorrhoea and cyclical abdominal pain for 1 year. On Per-rectal examination, tense cystic mass was felt on right side, approximately 5x5 cm in size, tender and freely mobile. Cervix could not be palpated. Small knob like structure was felt on left side, 1.5x1.5 cm in size, firm in consistency and freely mobile. USG showed uterus of size 5x4x3 cm with collection in endrometrial cavity with? hypoplastic cervix suggestive of- Hematometra with cervical agenesis. On laparotomy, tense unicornuate uterus on right side and solid rudimentary horn on left side was found, which was attached to the uterus by peritoneal fold. Cervix was absent. Both ovaries and tubes were normal. Right cornua of uterus was completely excised leaving both the tubes and ovaries.

Unilateral Functional Uterine Horn with Non Functioning Rudimentary Horn and Cervico-Vaginal Agenesis: Case Report.

Developmental anomalies involving Mullerian ducts are one of the most fascinating disorders in Gynaecology. The incidence rates vary widely and have been described between 0.1-3.5% in the general population. We report a case of a fifteen year old girl who presented with primary amenorrhea and lower abdomen pain, with history of instrumentation about two months back. She was found to have abdominal lump of sixteen weeks size uterus. On examination vagina was found to be represented as a small blind pouch measuring 2-3cms in length. A rectovaginal fistula (2x2 cms) was also observed. Ultrasonography of abdomen revealed bulky uterus (size 11.2x6 cm) with 150 millilitre of collection. Adiagnosis of hematometra with iatrogenic fistula was made. Vaginal drainage of hematometra was done which was followed by laparotomy. Peroperatively she was found to have a left side unicornuate uterus with right side small rudimentary horn. Left fallopian tube and ovary showed dense adhesions and multiple endometriotic implants. Both cervix and vagina were absent. Total abdominal hysterectomy was done and rectovaginal fistula repaired. The present case is reported due to its rarity as it involved both mullerian agenesis with cervical and vaginal agenesis along with disorder of lateral fusion. This is an asymmetric type of mullerian duct development in which arrest has occurred in different stages of development on two sides.

Mullerian Agenesis: An Unusual Presentation as Hematometra and Bilateral Hematosalpinx.

A case of hematometra with bicornuate uterus and bilateral hematosalpinx in a 15-year-old girl complicated by vaginal agenesis and absent cervix is presented. She was managed by abdominal hysterectomy and bilateral salpingectomy. Bilateral ovaries were conserved.

Mayer-Rokitansky-Kuster-Hauser syndrome type II: A rare case.

Mayer-Rokitansky-Kuster-Hauser (MRKH) is a malformation complex comprising absent vagina and absent or rudimentary uterus. MRKH syndrome may be attributed to an initial affection of the intermediate mesoderm consequently leading (by the end of the 4th week of fetal life) to an alteration of the blastema of the cervicothoracicsomites and the pronephricducts. These latter subsequently induce the differentiation of the mesonephric and then the Wolffian and Mullerian ducts. There are very sparse such cases reported. We present a case of type II MRKH or Mullerian renal cervical somite association (i.e., Mullerian duct aplasia, renal dysplasia, and cervical somite anomalies).

Two Cases of Mullerian Agenesis Undergone Vaginal Reconstruction by McIndoe Technique / 대한산부인과학회잡지

Vaginal agenesis is uncommon gynecologic condition, and the most common etiology is Mullerian agenesis also called Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome. 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 from a functional and a psychological standpoint. We describe two patients with Mullerian agenesis, who have undergone vaginal reconstruction by McIndoe technique.

Two Cases of Mullerian Agenesis Undergone Vaginal Reconstruction by McIndoe Technique / 대한산부인과학회잡지

Vaginal agenesis is uncommon gynecologic condition, and the most common etiology is Mullerian agenesis also called Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome. 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 from a functional and a psychological standpoint. We describe two patients with Mullerian agenesis, who have undergone vaginal reconstruction by McIndoe technique.

Hormonal Studies In Primary Amenorrhea.

Values of serium Tri ido Thyronine (T3), Thyroxine (T4) thyroid stimulating hormone (TSH) Follicle stimulating hormones (FSH) are established in 70 primary amenorrhea cases. In chromosomally abnormal cases, the follicle stimulating values are elevated and it is further interesting to note that all these cases have mossaicism 45,X/46,XX. In 4 chromosomally abnormal cases Tri ido thyronine (T3), thyroxine (T4) and thyroid stimulating hormone (TSH) have shown abnormal values. Out of these 4 cases, 2 cases were with 45,X and 2 cases with 45,X/46,XX chromosome complement. All these cases have gonadal dysgenesis, with short stature and underweight.