scholarly journals Mayer-Rokitansky-Kuster-Hauser Syndrome: Embryology, Genetics and Clinical and Surgical Treatment

2013 ◽  
Vol 2013 ◽  
pp. 1-10 ◽  
Author(s):  
Alfonsa Pizzo ◽  
Antonio Simone Laganà ◽  
Emanuele Sturlese ◽  
Giovanni Retto ◽  
Annalisa Retto ◽  
...  

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a pathological condition characterized by primary amenorrhea and infertility and by congenital aplasia of the uterus and of the upper vagina. The development of secondary sexual characters is normal as well as that the karyotype (46,XX). Etiologically, this syndrome may be caused by the lack of development of the Müllerian ducts between the fifth and the sixth weeks of gestation. To explain this condition, it has been suggested that in patients with MRKH syndrome, there is a very strong hyperincretion of Müllerian-inhibiting factor (MIF), which would provoke the lack of development of the Müllerian ducts from primitive structures (as what normally occurs in male phenotype). These alterations are commonly associated with renal agenesis or ectopia. Specific mutations of several genes such as WT1, PAX2, HOXA7-HOXA13, PBX1, and WNT4 involved in the earliest stages of embryonic development could play a key role in the etiopathogenesis of this syndrome. Besides, it seems that the other two genes, TCF2 (HNF1B) and LHX1, are involved in the determinism of this pathology. Currently, the most widely nonsurgical used techniques include the “Frank’s dilators method,” while the surgical ones most commonly used are those developed by McIndoe, Williams, Vecchietti, Davydov, and Baldwin.

2020 ◽  
pp. 44-45
Author(s):  
Vamanagunta. Pranavi ◽  
Kurapati. Sai Anusha

Mayer-Rokitansky-Kuster-Hauser syndrome is an uncommon condition, with an incidence of 1 in 4000- 5000 female births and is the second most frequent cause of primary amenorrhea after gonadal dysgenesis .The reproductive abnormalities of MRKH syndrome are due to incomplete development of the Müllerian duct which develops into the uterus, fallopian tubes, cervix, and the upper part of the vagina. The cause of the abnormal development of the Müllerian duct in affected individuals is unknown. This abnormality is characterized by congenital aplasia/hypoplasia of the uterus and the upper part (2/3) of vagina, in young women presenting otherwise with normal endocrine status. It may include absence or hypoplasia of the uterus and fallopian tubes. The patients present with normal secondary sexual characteristics, as the functional ovaries are present, but menstruation is absent .


2021 ◽  
Vol 14 (4) ◽  
pp. e241387
Author(s):  
Mireia Tugues ◽  
Bernardo Nuñez ◽  
Raquel Corripio

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, a spectrum of anomalies arising from incomplete development of the Müllerian ducts, is characterised by congenital aplasia of the uterus and upper part of the vagina, often in the absence of other phenotypical abnormalities. We report the case of a 13-year-old girl referred to our endocrinology unit after an incidental finding of uterine agenesis during laparoscopy to correct suspected ovarian torsion. Initial transabdominal ultrasonography found no uterus. Given her normal secondary sex characteristics, karyotype and hormone profile, MRKH syndrome was initially diagnosed. However, after vaginal bleeding compatible with menstruation, repeat transabdominal ultrasonography and MRI revealed a left-deviated unicornuate uterus.


2021 ◽  
Vol 9 (T3) ◽  
pp. 175-177
Author(s):  
Muhammad Rusda ◽  
Delfi Lutan ◽  
Mervina Andarini ◽  
Andrina Yunita M. Rambe

BACKGROUND: Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a rare disorder described as aplasia or hypoplasia of uterus and vagina due to an early arrest in the development of Mullerian ducts. The etiology of MRKH syndrome remains uncertain: Although at the beginning, it was mentioned that this syndrome was the result of sporadic abnormalities. It has recently been assumed the genetic background is the cause of the increasing number of familial cases. CASE REPORT: A 29-year-old female patient presented with amenorrhea. She also has normal pubic and axillary hair and breast development. Routine investigations were normal. Genitalia inspection shows that pubic hair was well developed, labia majora and vagina were seen. Inspeculo show that vaginal wall was smooth, but portio was not seen. Vaginal examination result: The uterus was unpalpable, both adnexa were normal, parametrium was laxed, and Douglas pouch was not protruded. Rectal examination shows that uterus and both adnexa were difficult to identify. Transvaginal sonography revealed absence of uterus, both ovaries within normal. Transvaginal sonography diagnosed a uterine aplasia. With this, the provisional diagnosis made as primary amenorrhea due to suspected MRKH syndrome, the patient was referred for follicle-stimulating hormone, estradiol, testosterone, and prolactin levels by enzyme-linked immunosorbent assay examination and the result was within normal limit followed by genetic karyotyping and the result was normal 46, XX. CONCLUSIONS: We report a 29-year-old woman with primary amenorrhea. From our examination, the patient was diagnosed with MRKH syndrome. Uterus transplant is an alternative for that woman to treat amenorrhea and possibility to get pregnant.


2021 ◽  
Vol 9 (7_suppl4) ◽  
pp. 2325967121S0020
Author(s):  
Michael Ryan ◽  
Benton Emblom ◽  
E. Lyle Cain ◽  
Jeffrey Dugas ◽  
Marcus Rothermich

Objectives: While numerous studies exist evaluating the short-term clinical outcomes for patients who underwent arthroscopy for osteochondritis dissecans (OCD) of the capitellum, literature on long-term clinical outcomes for a relatively high number of this subset of patients from a single institution is limited. We performed a retrospective analysis on all patients treated surgically for OCD of the capitellum at our institution from January 2001 to August 2018. Our hypothesis was that clinical outcomes for patients treated arthroscopically for OCD of the capitellum would be favorable, with improved subjective pain scores and acceptable return to play for these patients. Methods: Inclusion criteria for this study included the diagnosis and surgical treatment of OCD of the capitellum treated arthroscopically with greater than 2-year follow-up. Exclusion criteria included any surgical treatment on the ipsilateral elbow prior to the first elbow arthroscopy for OCD at our institution, a missing operative report, and/or any portions of the arthroscopic procedure that were done open. Follow-up was achieved over the phone by a single author using three questionnaires: American Shoulder and Elbow Surgeons – Elbow (ASES-E), Andrews/Carson KJOC, and our institution-specific return-to-play questionnaire. Results: After the inclusion and exclusion criteria were applied to our surgical database, our institution identified 101 patients eligible for this study. Of these patients, 3 were then excluded for incomplete operative reports, leaving 98 patients. Of those 98 patients, 81 were successfully contacted over the phone for an 82.7% follow-up rate. The average age for this group at arthroscopy was 15.2 years old and average post-operative time at follow-up was 8.2 years. Of the 81 patients, 74 had abrasion chondroplasty of the capitellar OCD lesion (91.4%) while the other 7 had minor debridement (8.6%). Of the 74 abrasion chondroplasties, 29 of those had microfracture, (39.2% of that subgroup and 35.8% of the entire inclusion group). Of the microfracture group, 4 also had an intraarticular, iliac crest, mesenchymal stem-cell injection into the elbow (13.7% of capitellar microfractures, 5.4% of abrasion chondroplasties, and 4.9% of the inclusion group overall). Additional arthroscopic procedures included osteophyte debridement, minor synovectomies, capsular releases, manipulation under anesthesia, and plica excisions. Nine patients had subsequent revision arthroscopy (11.1% failure rate, 5 of which were at our institution and 4 of which were elsewhere). There were also 3 patients within the inclusion group that had ulnar collateral ligament reconstruction/repair (3.7%, 1 of which was done at our institution and the other 2 elsewhere). Lastly, 3 patients had shoulder operations on the ipsilateral extremity (3.7%, 1 operation done at our institution and the other 2 elsewhere). To control for confounding variables, scores for the questionnaires were assessed only for patients with no other surgeries on the operative arm following arthroscopy (66 patients). This group had an adjusted average follow-up of 7.9 years. For the ASES-E questionnaire, the difference between the average of the ASES-E function scores for the right and the left was 0.87 out of a maximum of 36. ASES-E pain was an average of 2.37 out of a max pain scale of 50 and surgical satisfaction was an average of 9.5 out of 10. The average Andrews/Carson score out of a 100 was 91.5 and the average KJOC score was 90.5 out of 100. Additionally, out of the 64 patients evaluated who played sports at the time of their arthroscopy, 3 ceased athletic participation due to limitations of the elbow. Conclusions: In conclusion, this study demonstrated an excellent return-to-play rate and comparable subjective long-term questionnaire scores with a 11.1% failure rate following arthroscopy for OCD of the capitellum. Further statistical analysis is needed for additional comparisons, including return-to-play between different sports, outcome comparisons between different surgical techniques performed during the arthroscopies, and to what degree the size of the lesion, number of loose bodies removed or other associated comorbidities can influence long-term clinical outcomes.


Antibiotics ◽  
2021 ◽  
Vol 10 (5) ◽  
pp. 512
Author(s):  
Michele Antonio Lopez ◽  
Pier Carmine Passarelli ◽  
Emmanuele Godino ◽  
Nicolò Lombardo ◽  
Francesca Romana Altamura ◽  
...  

Background: Peri-implantitis is a pathological condition characterized by an inflammatory process involving soft and hard tissues surrounding dental implants. The management of peri-implant disease has several protocols, among which is the chemical method HYBENX®. The aim of this study is to demonstrate the efficacy of HYBENX® in the treatment of peri-implantitis and to compare HYBENX® with other chemical agents used in the surgical treatment of peri-implantitis. Methods: The present study included a population of ten subjects with severe peri-implantitis. The procedure used in the study involves the application of HYBENX® after open-flap debridement. Each patient has been followed for 12 months after a single application of the decontaminant agent. Clinical and radiographical parameters were recorded at baseline, 3 months, and 12 months after treatment completion. Results: At baseline, a mean pocket probing depth (PPD) of 7.3 ± 0.5 mm and a mean clinical attachment level (CAL) of 8.8 ± 0.8 mm was recorded. An average residual PPD of 4.2 ± 0.5 mm and a mean CAL of 5.2 ± 0.8 mm were observed after 1 year. Additionally, the average of bone gain was about 3.4 mm, with a mean marginal bone level (MBL) change from 5.8 mm (baseline) to 2.4 mm (12 months). In total, 90% of the treated implants reached the success rate after the 1-year follow-up. Only in one case out of ten treated implants was resolution of the disease not achieved. Conclusion: Clinical improvements highlight that the procedure of open-flap debridement (OFD) + HYBENX® may be considered an effective technique in the treatment of peri-implantitis. From the results obtained, it can be concluded that the use of HYBENX® in the surgical treatment of peri-implantitis is promising. Overall, this protocol demands further studies to better understand the role and potential benefits of HYBENX® in the treatment of peri-implantitis.


1998 ◽  
Vol 23 (3) ◽  
pp. 334-339 ◽  
Author(s):  
L. B. DAHLIN ◽  
Y. KOMOTO-TUFVESSON ◽  
S. SÄLGEBACK

Thirty-six patients with hemiplegic cerebral palsy had surgical treatment for the upper limb and were followed up for 18 months postoperatively. Various operations were done. A striking finding was a significant improvement of stereognosis (ability to describe and recognize objects without vision). Most patients had improvement in different functional grasps following surgical reconstruction. Range of movement in the forearm and wrist also increased in most patients. The thumb-in-palm deformity was completely corrected in 31 of the patients and improved in the other five. Most patients had some or all of their expectations of the procedure fulfilled.


2021 ◽  
Vol 12 (1) ◽  
pp. 35-48
Author(s):  
Neha Gupta

In this article, I unravel the use of tuberculosis as a metaphor in Ritwik Ghatak's Meghe Dhaka Tara (The Cloud-Capped Star), and locate it within the indices of loss Ghatak uses in the film to designate the tragic and brutal partition of the Bengal Presidency in 1947. Nita’s illness – which was both her tragedy and salvation – had to be a careful selection; it had to be semiotically proximate to the other meanings and metaphors imputed to Nita. To establish the salience of the use of tuberculosis, I underscore the link between the perception of tuberculosis and the ‘being’ of the protagonist (Nita) it sublimates. I further demonstrate that tuberculosis is the most apt disease, because the metaphors that the disease has been imbued with assimilate into the larger symbolic register that Ghatak uses in the film. I posit that Nita – ‘also’, and perhaps more acutely – suffers from the imperatives of tuberculosis – the characteristics associated with the disease in the popular imagination – rather than the mere pathological condition caused by the pathogen, mycobacterium tuberculosis.


1908 ◽  
Vol 28 ◽  
pp. 400-402
Author(s):  
Dawson Turner

MANY attempts have been made to utilise electrolysis in aneurysms, especially in those thoracic ones that are not amenable to ordinary surgical treatment; it has been hoped that the clotting which occurs around the poles might serve as a nucleus for further coagulation and deposits of fibrin, and that the aneurysm cavity might in this way become partially filled up. Such attempts have not met with much success hitherto, and the purpose of this research has been to endeavour to determine by experiments on blood serum outside the body what the actual effect of electrolysis is so far as regards clotting. Various methods of electrolysing the blood in an aneurysm have been used by surgeons. Ciniselli introduced needles connected with both poles, and reversed the direction of the current every five minutes; of 38 cases so treated, 27 were ameliorated, but none were cured. In the unipolar method one pole only was introduced, and the other was connected with an indifferent pad placed in the vicinity. The difficult question was which pole to introduce. The positive pole gave the firmest clot, but it was thought that it might be difficult to withdraw, and that hæmorrhage or even rupture of the vessel might follow.


2017 ◽  
Vol 4 (3) ◽  
pp. 120-122
Author(s):  
V.V. Boyko ◽  
V.V. Makarov ◽  
A.L. Sochnieva ◽  
V.V. Kritsak

Boyko V.V., Makarov V.V., Sochnieva A.L., Kritsak V.V.Residual foreign bodies in soft tissues are one of the main causes of chronical infection lesions and decrease in life quality. Surgical treatment is the most common way to relieve the patient from a foreign body. Often there is a question whether to remove a foreign body? On the one hand, all foreign bodies that are in the human body must be removed. On the other hand, in the absence of symptoms, the risk of surgery performed for the purpose of removal exceeds the risk associated with finding the foreign body. We would like to describe a practical case of removing a foreign body (Kirschner`s wires) from the left supraclavicular region. The young patient lived with a fragment of Kirschner's wire left after the osteosynthesis of the fractured clavicle for 5 years. Surgery to remove the residual foreign body was successful. On the 7th postoperative day the patient was discharged from the hospital under the supervision of surgeons at the place of residence.Key words: foreign body in soft tissue, Kirschner`s wire, surgical treatment. КЛІНІЧНИЙ ВИПАДОК ВИДАЛЕННЯ ЗАЛИШКОВ СТОРОННЬОГО ТІЛА З ЛІВОЇ НАДКЛЮЧИЧНОЇ ОБЛАСТІБойко В.В., Макаров В.В., Сочнева А.Л.,  Крицак В.В.Залишкові чужорідні тіла м'яких тканин залишаються однією з основних причин виникнення вогнища хронічної інфекції та зниження рівня якості життя. Хірургічне лікування основний спосіб позбавити хворого від наявності чужорідного агента. Часто виникає питання чи видаляти чужорідне тіло. З одного боку, усі сторонні тіла, що знаходяться в тілі людини, підлягають видаленню, з іншого боку при відсутності симптомів ризик операції, проводимої з метою видалення, перевищує ризик, пов'язаний з перебуванням чужорідного тіла. Ми хотіли б поділитися випадком видалення залишкового стороннього тіла (спиці Кіршнера) лівої надключичної ділянки із власної практики. Молода пацієнтка прожила з уламком спиці Кіршнера, залишеної після металлоостеосинтезу поламаної ключиці протягом 5 років. Операція з видалення залишкового стороннього тіла пройшла успішно. На 7 післяопераційну добу пацієнтка була виписана зі стаціонару під спостереження хірурги за місцем проживання.Ключові слова: чужорідне тіло м'яких тканин, спиця Кіршнера, хірургічне лікування. кЛИНИЧЕСКИЙ СЛУЧАЙ УДАЛЕНИЯ ОСТАТКОВ ИНОРОДНОГО ТЕЛА ИЗ ЛЕВОЙ ПОДКЛЮЧИЧНОЙ ОБЛАСТИ Бойко В.В., Макаров В.В., Сочнева А.Л.,  Крицак В.В.Остаточные инородные тела мягких тканей остаются одной из основных причин возникновения очага хронической инфекции и снижения уровня качества жизни. Хирургическое лечение основной способ избавить больного от наличия чужеродного агента. Часто возникает вопрос удалять ли инородное тело? С одной стороны, все инородные тела, находящиеся в теле человека, подлежат удалению, с другой стороны при отсутствии симптомов риск операции, производимой с целью удаления, превышает риск, связанный с нахождением инородного тела. Мы хотели бы поделится случаем удаления остаточного инородного тела (спицы Киршнера) левой надключичной области из собственной практики. Молодая пациентка прожила с обломком спицы Киршнера, оставленной после металлоостеосинтеза поломанной ключицы в течении 5 лет. Операция по удалению остаточного инородного тела прошла успешно. На 7 послеоперационные сутки пациентка была выписана из стационара под наблюдение хирурги по месту жительства.Ключевые слова: инородное тело мягких тканей, спица Киршнера, оперативное лечение.


2021 ◽  
Vol 5 (3) ◽  
pp. 809-813
Author(s):  
Ratih Krisna ◽  
Rizky Agustria

Introduction: The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is a condition in which there is an absence of the uterus and the upper part (2/3) of the vagina. Women with MRKH syndrome show normal development of secondary sexual characteristics and a normal 46, XX karyotype. MRKH syndrome is a common cause of primary amenorrhea. Ultrasonography examination confirms kidneys, presence of the ovaries, and absence of uterus. Treatment should include a multidisciplinary approach to create a functional vagina. One of the procedures is laparoscopic Davydov vaginoplasty. Aim: To report MRKH syndrome case treated with laparoscopic Davydov vaginoplasty. Method: Ms. A, 21 years old, P0A0, came to FER clinic Moh. Hoesin Hospital Palembang with complaint, never had menstruation, the patient admitted her breast, and her pubic had growth. She wants to get married in the next six months. From the US result, there was non visualized uterus, genital band (+), and both ovaries within normal limit ~ MRKH Syndrome. Karyotype Examination: 46, XX. Patient was diagnosed with primary amenorrhea caused by MRKH syndrome and was planned for neovagina (Davydov Procedure). Result: A woman 21-year-old, P0A0, was diagnosed with primary amenorrhea caused by MRKH syndrome. The Davydov procedure was done to create a neovagina. Intraoperative, after protrusion of the wood mold as a marker shown, an incision is made to the left and right side so that the mold penetrates the abdominal cavity, then the mold is pulled into the vaginal canal slowly. The anterior and posterior peritoneal layers are drawn into the vaginal canal. The anterior and posterior peritoneal layers were withdrawn with an ovum clamp and then interrupted suture. The anterior and posterior peritoneal layers were sutured in a circular method to form a vaginal cuff. The vaginal wall is sutured (interrupted) to hold mold fixed. Conclusion: MRKH syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and the uterus to be underdeveloped or even absent at birth. Patients with diagnosed MRKH syndrome require interdisciplinary care. Davydov procedure is a laparoscopically-assisted technique, which has an advantage over traditional approaches. It has shorter operating time, lower intraoperative complications, shorter hospital stay, and no external scars. Postoperatively, sexual function is similar to women without gynecological disorders.


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