Dissociative disorder in Mayer Rokitansky Küster Hauser syndrome with pulmonary agenesis: a case report

Background The Mayer Rokitansky Küster Hauser (MRKH) syndrome is a rare congenital disorder characterized by the absence of uterus and vagina in a patient who is phenotypically a female, with 46 XX karyotypes. It affects 1 in 4000 to 5000 female new-borns. Pulmonary agenesis is a rare association in this MRKH syndrome. Females with MRKH face various mental health issues and psychological disturbances, including dissociative disorder which is a stress-related psychiatric disorder. Dissociative disorder in MRKH syndrome is under-recognized and under-treated. Case presentation A 23-year-old unmarried woman presented to the emergency forabnormal behaviour attack. Recurrent episodes of dissociative convulsions were present most of the time with MRKH syndrome as the pertinent stressor. Both antidepressants and psychotherapy helped to decrease the frequency of dissociative convulsions and come interms with the syndrome. Conclusion This case describes dissociative disorder as the presentation and comorbid condition of MRKH syndrome and the impact of MRKH syndrome on the patient. We attempt to explain the occurrence of dissociative disorder in MRKH syndrome and the results of under-recognition and under-treatment of the same. We aim to highlight the presence of commonly treatable conditions associated with a rare syndrome and its effect when untreated and unrecognized.

Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) Patients Treated with Laparoscopic Neovaginal with The Davydov Procedure with Epidural Anesthesia: A Case Report

Introduction. MRKH syndrome is characterized by incomplete or absent of vaginal and uterine agenesis. Currently there are no official guidelines on the management of MRKH syndrome. This case report is about the operative management in MRKH patients by neovaginal with laparoscopic Davydov procedure. Case presentation. A 26-year-old woman admitted that she had never had a period, the patient admitted that her breasts began to grow at the age of 13, and the patient was planning to get married, and refused to take further planning. The patient then came back to the RSMH urogynecology clinic after marriage, from the examination it was found that the pubic hole was ± 0.5 cm deep, speculum examination could not be done, the uterus could not be palpable from the rectal toucher. From the ultrasound examination, it was found that both ovaries were within normal limits and suspected uterine hypoplasia. Hormone tests were within normal limits, with the following values: LH 27.01 mIU / mL, FSH 57.08 mIU / mL, Estradiol 10 pg / mL, Prolactin 5.94 ng / mL. Patients with a history of atrial septal defect (ASD) and ventricular septal defect (VSD) Conclusion. Treatment of MRKH syndrome patients is usually complex and requires multidisciplinary counseling, therapy, and management, so it is hoped that it can help patients to make a functional vagina. Further research and collaboration from various multidisciplinary make pregnancy in patients with MRKH syndrome, not impossible, along with current technological and scientific developments, the selection of surrogate mothers, and uterine transplantation is an option.

Giant hysteromyoma after vaginoplasty in a woman with Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome: case report and review of the literature

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a congenital disorder characterized by congenital absence of both the uterus and vagina. Some patients require surgery to create a neovagina, however, the preservation of a nonfunctional rudimentary uterus after surgery may lead to long-term complications. Herein, a rare case of a giant hysteromyoma after vaginoplasty, in a 31-year-old Chinese female patient who was diagnosed with MRKH syndrome, is reported. The patient, who had undergone vaginal reconstruction 4 years previously, presented with abdominal distension for the previous 2 weeks. Transabdominal ultrasonography showed a firm mass of approximately 10 × 10 cm in the lower abdomen. The patient subsequently underwent an exploratory laparotomy, and a leiomyoma from her rudimentary uterus was removed. Beside this case, seven cases, published between 2004 and 2020, were identified during a literature search. Findings of the present and previously published cases suggest that gynaecologists should pay particular attention to the risks of pelvic complications in female patients with MRKH syndrome who have previously undergone surgery, and select appropriate therapeutic methods.

A rare case of macroprolactinoma in a patient with Mayer–Rokitansky–Kuster–Hauser (MRKH) syndrome

Summary A 17-year-old lady presented with primary amenorrhoea, headache, nausea and lethargy. She had delayed pubertal development that also includes under-developed breast (Tanner Stage 2). Hormonal investigations showed a high serum prolactin level of 1 680 000 mIU/L (normal value: 45–375 mIU/L), with low oestradiol, progesterone, follicular-stimulating hormone and luteinizing hormone. Early morning cortisol level was 206 nmol/L (normal value: >450 nmol/L), thyroxine was 7.5 pmol/L (normal value: 9.0–24.0 pmol/L) with TSH 5.091 mIU/L (normal value: 0.4–4.5 mlU/L). A pituitary MRI showed a 2.7 (AP) × 3.7 (W) × 4.6 cm (CC) macroadenoma, with invasion into the left cavernous sinus and encasement of cavernous portion of the left internal carotid artery. MRI pelvis showed absent uterus, cervix and 2/3 upper vagina confirming Mullerian hypoplasia. Cytogenetics showed 46XX. These findings were suggestive of Mayer–Rokitansky–Kauser–Hauser (MRKH) syndrome with the presence of a pituitary macroprolactinoma and panhypopituitarism. She was treated with hydrocortisone, levothyroxine and cabergoline. Repeated MRI showed a reduction in tumour size by approximately 50%. This case illustrated a rare coexistence of these two conditions, being only the third reported case in the world. In addition, this would be the first case of a functioning pituitary adenoma in a patient with MRKH syndrome. Learning points Comprehensive hormonal and radiological investigations are important in the management of a young patient with primary amenorrhoea. Coexistence pathology of two separate pathologies should be considered in patient presenting with primary amenorrhoea. Early diagnosis of MRKH or any disorders of sex development should be treated early, providing pharmacological, surgical, psychological and emotional support to the patient and reducing risk of associated complications. Abnormal pituitary hormones, particularly panhypopituitarism, would impose greater impact not only psychologically but also metabolically leading to cardiovascular, morbidity and mortality risks in this patient if not treated early. A multidisciplinary approach is necessary for patients presenting with MRKH to ensure appropriate treatments and follow-up across the lifespan of the patient.

Laparoscopic Vaginoplasty Procedure Using a Modified Peritoneal Pull-Down Technique with Uterine Strand Incision in Patients with Mayer–Rokitansky–Küster–Hauser Syndrome: Kisu Modification

Various vaginoplasty procedures have been developed for patients with Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome. Here, we describe a novel laparoscopic vaginoplasty procedure, known as the Kisu modification, using a pull-down technique of the peritoneal flaps with additional structural support to the neovaginal apex using the incised uterine strand in patients with MRKH syndrome. Ten patients with MRKH syndrome (mean age at surgery: 23.9 ± 6.5 years, mean postoperative follow-up period: 17.3 ± 3.7 months) underwent construction of a neovagina via laparoscopic vaginoplasty. All surgeries were performed successfully without complications. The mean neovaginal length at discharge was 10.3 ± 0.5 cm. Anatomical success was achieved in all patients, as two fingers were easily introduced, the neovagina was epithelialized, and the mean neovaginal length was 10.1 ± 1.0 cm 1 year postoperatively. No obliteration, granulation tissue formation at the neovaginal apex, or neovaginal prolapse was recorded. Five of the 10 patients attempted sexual intercourse and all five patients were satisfied with the sexual activity, indicating functional success. Although the number of cases in this case series is few, our favorable experience suggests that the Kisu modification of laparoscopic vaginoplasty procedure is an effective, feasible, and safe approach for neovaginal creation in patients with MRKH syndrome.

Renal abnormalities associated with Mayer-Rokitansky-Küster-Hauser syndrome

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder affecting female reproductive system (agenesis of uterus and upper part of vagina) alone (type 1), or associated with abnormalities of other organs and systems (type 2). We report a case of a 21-year-old woman diagnosed with MRKH due to primary amenorrhea during puberty and operated for formation of neovagina. She was admitted to the Department of Urology with abdominal pain and oligoanuria, where the physical examination and imaging studies revealed a malformation of the upper urinary tract: a solitary dystopia of kidney in the pelvis with stenosis of ureteropelvic junction and hydronephrosis. After initial desobstruction with a DJ stent, a pyeloplasty was performed. Females with primary amenorrhea are often delayed with the diagnosis of potential MRKH syndrome, and those diagnosed with the syndrome should undergo detailed examination to exclude concomitant urinary abnormalities.

Patient-derived endometrial organoids from MRKH patients: Insight in disease causing pathways

The uterus is responsible for the nourishment and mechanical protection of the developing embryo and fetus and is an essential part in mammalian reproduction. The Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome is characterized by agenesis of the uterus and upper part of the vagina in females with normal ovarian function. Although heavily studied, the cause of the disease is still enigmatic. Current research in the field of MRKH mainly focusses on DNA-sequencing efforts and, so far, failed to decipher the nature and heterogeneity of the disease, thereby holding back scientific and clinical progress. Here, we developed long-term expandable organoid cultures from endometrium found in uterine rudiment horns of MRKH patients. Phenotypically, they share great similarity with healthy control organoids and are surprisingly fully hormone responsive. Transcriptome analyses, however, identified an array of dysregulated genes that point at potentially disease-causing pathways altered during the development of the female reproductive tract. We consider the endometrial organoid cultures to be a powerful research tool that promise to enable an array of studies into the pathogenic origins of MRKH syndrome and possible treatment opportunities to improve patient quality of life.