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1.
Niger J Clin Pract ; 27(5): 643-646, 2024 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-38842714

RESUMO

BACKGROUND: Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome, the second important cause of primary amenorrhea, is characterized by complete mullerian agenesis in the presence of normal karyotype and normal functioning ovaries. Incidence is one in 4500 females. Treatment options include surgical and non-surgical methods. Surgical treatment by creating a neovagina between bladder and rectum is preferred as it gives immediate results. AIM: To evaluate the anatomical and functional outcomes of modified vaginoplasty procedures conducted in our institution. METHODS: An ambispective cohort study was conducted in the Department of Obstetrics and Gynaecology, at a tertiary care hospital and included 10 cases of MRKH syndrome, who underwent surgical treatment in our department. Postoperative outcome was noted. Sexual function was evaluated using the Female Sexual Function Index (FSFI) score. RESULTS: The mean duration of surgery was 40 minutes. The average blood loss during surgery in patients undergoing vaginoplasty was 60 ml. The mean length of the neovagina as measured 1 month after surgery was 7.9 cms. FSFI score was >30 in eight patients. Two patients were lost to follow-up. CONCLUSION: Modified McIndoe vaginoplasty is a simple, safe, and cost-effective procedure in the hands of experts. Only mature patients willing to follow the instructions and planning to get married soon should undergo this surgery.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Anormalidades Congênitas , Ductos Paramesonéfricos , Centros de Atenção Terciária , Vagina , Humanos , Feminino , Vagina/cirurgia , Vagina/anormalidades , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/cirurgia , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Adulto , Adolescente , Anormalidades Congênitas/cirurgia , Adulto Jovem , Procedimentos de Cirurgia Plástica/métodos , Resultado do Tratamento , Procedimentos Cirúrgicos em Ginecologia/métodos , Estudos de Coortes , Estudos Prospectivos
2.
Am J Case Rep ; 25: e943305, 2024 Jun 13.
Artigo em Inglês | MEDLINE | ID: mdl-38867420

RESUMO

BACKGROUND Laparoscopic-perineal neovagina construction by sigmoid colpoplasty is a popular therapeutic approach for patients with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. The conventional approach requires an auxiliary abdominal incision to exteriorize the descending colon to fix the anvil for end-to-end colorectal anastomosis. We modified the natural orifice specimen extraction surgery (NOSES) approach by exteriorizing the descending colon through the artificial neovaginal tunnel to replace the anvil extracorporeally, without requiring an auxiliary abdominal incision. It was a more minimally invasive technique. CASE REPORT We performed this modified laparoscopic-perineal sigmoid colpoplasty in a 26-year-old woman with MRKH syndrome. We cut off a segment of the sigmoid colon with a vascular pedicle to make a new vagina out of it, the same as in the traditional laparoscopic-perineal sigmoid colpoplasty. What is new about this technique is that it has no need for abdominal incision and is more minimally invasive. The operating time was 315 min. No postoperative complications occurred. The postoperative hospital stay was 4 days. The modified laparoscopic-perineal approach, free from an auxiliary abdominal incision, demonstrated advantages, including a shorter hospital stay, expedited recovery, and comparable anatomical outcomes, when compared with the traditional approach. This innovation improves the surgical experience for patients with MRKH syndrome, addressing the physical and psychological aspects of their condition. CONCLUSIONS This refined laparoscopic-perineal neovagina construction by sigmoid colpoplasty represents a feasible and minimally invasive technique. It is an attractive option for MRKH syndrome patients in need of vaginal reconstruction, offering a streamlined procedure with reduced postoperative recovery time and enhanced patient outcomes.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Colo Sigmoide , Laparoscopia , Ductos Paramesonéfricos , Períneo , Vagina , Humanos , Feminino , Adulto , Laparoscopia/métodos , Colo Sigmoide/cirurgia , Vagina/cirurgia , Vagina/anormalidades , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/cirurgia , Períneo/cirurgia , Anormalidades Congênitas/cirurgia , Procedimentos de Cirurgia Plástica/métodos
4.
Eur J Obstet Gynecol Reprod Biol ; 298: 85-90, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38733778

RESUMO

BACKGROUND: The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare condition with significant psychological implications. However, our understanding of its impact on postoperative sexual function and mental health is still limited. AIM: Evaluate the mental health status and sexual functioning of women with MRKH syndrome after vaginoplasty surgery. METHODS: We enrolled 53 cases with MRKH syndrome who underwent artificial vaginoplasty. The participants were asked to participate in a two-round survey conducted between February 2021 during the covid-19 period and March 2023. The survey included questionnaires to measure depression, anxiety, self-esteem, and sexual functioning. Differences between scores over time were analysed using a paired sample t-test, and we assessed the correlation between mental health and sexual functioning. RESULTS: In the first round, patients' mean ± SD age at surgery was 23.6 ± 4.5 years old, and the mean ± SD time that had elapsed since surgery at the time of the survey was 34.2 ± 20.8 months. None of the patients reported low self-esteem, 45.3 % reported mild-to-moderate depression, and 34.0 % reported mild anxiety. Thirty patients have had vaginal intercourse during the last six months. The mean ± SD Female Sexual Functioning Index score was 24.6 ± 4.4, and 60.0 % had a score of 23.5 or higher, indicating high sexual functioning. The sexual functioning scores were positively correlated with self-esteem scores and negatively correlated with depression or anxiety scores (p < 0.05). There was no significant improvement in patient's mental health status and sexual function between the second round survey (71.3 ± 17.8 months after surgery) and the first round survey (p > 0.05). In contrast, the sexual arousal of FSFI were significantly higher in the second survey round (p < 0.05). CONCLUSION: Most patients undergoing vaginoplasty reported persisting mental health challenges. However, the majority reported good sexual functioning.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Ansiedade , Anormalidades Congênitas , Depressão , Ductos Paramesonéfricos , Autoimagem , Vagina , Humanos , Feminino , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Transtornos 46, XX do Desenvolvimento Sexual/psicologia , Vagina/cirurgia , Vagina/anormalidades , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/cirurgia , Anormalidades Congênitas/cirurgia , Anormalidades Congênitas/psicologia , Adulto , Depressão/psicologia , Depressão/etiologia , Ansiedade/psicologia , Ansiedade/etiologia , Adulto Jovem , Comportamento Sexual/psicologia , Adolescente , COVID-19/psicologia
5.
Zhonghua Fu Chan Ke Za Zhi ; 59(5): 360-367, 2024 May 25.
Artigo em Chinês | MEDLINE | ID: mdl-38797565

RESUMO

Objective: To explore the age of onset and consultation, the main clinical manifestations, common types of combined malformations, the relationship of endometriosis, surgical prognosis and different types of proportion of adolescent female reproductive system dysplasia. Methods: The medical records of 356 patients (aged 10-19) with female reproductive system dysplasia in Women's Hospital, School of Medicine, Zhejiang University from January 2003 to August 2018 were collected and retrospectively analyzed. Results: (1) Among the 356 adolescent dysplasia patients, uterine dysplasia (23.6%, 84/356), oblique vaginal septum syndrome (OVSS; 22.5%, 80/356) and vaginal dysplasia (21.6%, 77/356) were the most frequent ones, followed by multi-sectional dysplasia (16.0%, 57/356), other types of developmental abnormalities like external genitaliaand urogenital fistula (13.5%, 48/356) and Mayer-Rokitansky-Küster-Hauser syndrome (MRKH syndrome; 2.8%, 10/356). (2) There were significant differences between the median age of onset and the age of consultation of patients with OVSS and other types of abnormalities except hymen atresia (both P<0.05). In contrast, there were no significant differences between the age of onset and the age of consultation of the patients of uterine dysplasia, vaginal dysplasia, hymen atresia, MRKH syndrome and multi-sectional dysplasia (all P>0.05). (3) The clinical manifestations were lack of specificity, and mainly abnormal finding was lower abdominal pain. (4) After admission, the majority of patients underwent comprehensive cardiopulmonary examination (71.3%, 254/356) and urinary system examination (63.5%, 226/356). Only 18.3% (65/356) of patients had completed abdominal organ examination, and 5.9% (21/356) skeletal system examination. About other systemic malformations, urological malformations were the most common (27.5%, 98/356), followed by anorectal malformation (0.6%, 2/356), heart malformations (0.3%, 1/356), and spinal malformations (0.3%, 1/356). 46.4% (84/181) of the surgical patients were diagnosed with combined endometriosis. Patients with obstructive genital tract malformations were more likely to combine with endometriosis than non-obstructive ones [50.3% (74/147) vs 29.4% (10/34); P<0.05]. However, there was no significant difference between the severity of endometriosis of those two kinds (P>0.05). (5) Totally 308 patients were followed up successfully with a median of 25.0 years old, and 20 cases were treated again; 12.0% (37/308) of them were suffering from menstrual disorder and 33.1% (102/308) of them with dysmenorrhea. Totally 130 patients had sexually active reported no sexual problems. Conclusions: Uterine dysplasia, OVSS and vaginal dysplasia are the most common syndromes in adolescent female reproductive system dysplasia along with frequent cases of coexisting urinary malformations and increasing risks of endometriosis. Meanwhile, the lack of specificity of clinical manifestations might delay the timely diagnosis and treatment after the onset of symptoms. Nonetheless, most patients could achieve good surgical outcomes.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Anormalidades Congênitas , Endometriose , Ductos Paramesonéfricos , Útero , Vagina , Humanos , Feminino , Adolescente , Estudos Retrospectivos , Vagina/anormalidades , Vagina/cirurgia , Ductos Paramesonéfricos/anormalidades , Endometriose/cirurgia , Endometriose/diagnóstico , Endometriose/patologia , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Anormalidades Congênitas/epidemiologia , Útero/anormalidades , Útero/cirurgia , Útero/patologia , Adulto Jovem , Anormalidades Urogenitais/cirurgia , Anormalidades Múltiplas/epidemiologia , Criança , Prognóstico , Genitália Feminina/anormalidades , Genitália Feminina/cirurgia , Genitália Feminina/patologia
7.
J Pediatr Surg ; 59(7): 1262-1265, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38584008

RESUMO

BACKGROUND: There is wide variation in the language used to describe Mullerian structures. To standardize terminology, the American Society of Reproductive Medicine (ASRM) created the Mullerian Anomalies Classification (MAC) in 2021. The objective of this study was to evaluate the applicability of the MAC nomenclature to pediatric patients with cloaca. METHODS: A retrospective review of all patients with cloaca was performed at a single institution. Descriptions of Mullerian structures were evaluated and compared to the ASRM MAC categories. Descriptive statistics were used to report findings. RESULTS: 36 patients with cloaca were identified, 13 (36%) of whom had congenital Mullerian structures that could not be adequately described by the MAC terminology. All 13 patients had two hemiuteri that were not connected in the midline and were not accurately described as uterus didelphys. Additionally, 5 of these 13 patients had reproductive anatomy that was connected by a fistula or ectopic connection to other pelvic structures. CONCLUSION: Despite the ASRM expansion of the Mullerian anomalies nomenclature, more than a third of our patients with cloaca could not have their Mullerian structures accurately described. Describing anatomy with accurate and consistent language can improve communication between healthcare providers and may allow patients and families to better anticipate fertility options. STUDY TYPE: Retrospective. LEVEL OF EVIDENCE: IV.


Assuntos
Cloaca , Ductos Paramesonéfricos , Terminologia como Assunto , Humanos , Estudos Retrospectivos , Feminino , Cloaca/anormalidades , Ductos Paramesonéfricos/anormalidades , Anormalidades Urogenitais/classificação , Anormalidades Urogenitais/diagnóstico por imagem , Anormalidades Urogenitais/cirurgia , Criança , Útero/anormalidades , Lactente , Pré-Escolar , Adolescente
8.
J Nepal Health Res Counc ; 21(3): 530-533, 2024 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-38615228

RESUMO

Mayer-Rokitansky-Kuster-Hauser syndrome also known as mullerian agenesis is a rare congenital condition in which there is absence of uterus along with upper vagina. Patient usually presents with primary amenorrhea with or without cyclical lower abdominal pain but have normal secondary sexual characters. Modified McIndoe Vaginoplasty with amnion graft is the commonest surgery performed worldwide. A 23 year old girl with normal secondary sexual characters presented with primary amenorrhea with cyclical lower abdominal pain; on examination blind vagina was present. Vaginoplasty with amnion graft was done and vaginal mould was placed. Vaginal dilatation with Hegar's dilator was done weekly until 6 weeks. She is under regular follow-up at present and advised for regular manual dilation at home. McIndoe Vaginoplasty with amnion graft is a simple yet rewarding procedure especially in low resource countries like ours, with good success rate and with minimal postoperative complications. Keywords: Amnion graft; Mayer-Rokitansky-Kuster-Hauser Syndrome; Modified McIndoe Vaginoplasty; Primary amenorrhea; Secondary sexual characters.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Amenorreia , Âmnio , Anormalidades Congênitas , Ductos Paramesonéfricos , Feminino , Humanos , Adulto Jovem , Dor Abdominal , Amenorreia/etiologia , Ductos Paramesonéfricos/anormalidades , Nepal , Doenças Raras , Vagina/cirurgia
9.
J Med Case Rep ; 18(1): 126, 2024 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-38523311

RESUMO

INTRODUCTION: Menstruation is a developmental milestone and usually marks healthy and normal pubertal changes in females. Menarche refers to the onset of first menstruation in a female. The causes of primary amenorrhea include outflow tract abnormalities, resistant endometrium, primary ovarian insufficiency, and disorders of the hypothalamus, pituitary, or other endocrine glands. A rare variant of mullerian agenesis, which warrants an individualized approach to management, is presented here. CASE REPORT: We present here the case of a 25-year-old Indian female with pain in the lower abdomen and primary amenorrhea. After a thorough history, clinical examination, imaging, and diagnostic laparoscopy, two small uteri, a blind upper half vagina, bilateral polycystic ovaries, and a blind transverse connection between the two uteri-a horseshoe band cervix-were detected, which confirmed the diagnosis of mullerian agenesis. There was evidence of adenomyosis in the mullerian duct element. This is a rare form of Müllerian abnormality with an unusual presentation. CONCLUSION: Mullerian agenesis is the most common cause of primary amenorrhea with well-developed secondary sexual characteristics. There are various forms of mullerian agenesis. Most of the cases are managed by a multidisciplinary team. Rare variants warrant an individualized approach to management.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Anormalidades Congênitas , Ductos Paramesonéfricos/anormalidades , Feminino , Humanos , Adulto , Amenorreia/complicações , Transtornos 46, XX do Desenvolvimento Sexual/complicações , Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Vagina/diagnóstico por imagem , Vagina/anormalidades , Anormalidades Congênitas/diagnóstico
10.
Toxicol Sci ; 199(2): 210-226, 2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38526210

RESUMO

In avian embryos, xenoestrogens induce abnormalities in reproductive organs, particularly the testes and Müllerian ducts (MDs). However, the molecular mechanisms remain poorly understood. We investigated the effects of ethynylestradiol (EE2) exposure on gene expression associated with reproductive organ development in Japanese quail embryos. Reverse transcription quantitative polymerase chain reaction (RT-qPCR) analysis revealed that the left testis containing ovary-like tissues following EE2 exposure highly expressed the genes for steroidogenic enzymes (P450scc, P45017α, lyase, and 3ß-HSD) and estrogen receptor-ß, compared to the right testis. No asymmetry was found in these gene expression without EE2. EE2 induced hypertrophy in female MDs and suppressed atrophy in male MDs on both sides. RNA sequencing analysis of female MDs showed 1,366 differentially expressed genes between developing left MD and atrophied right MD in the absence of EE2, and these genes were enriched in Gene Ontology terms related to organogenesis, including cell proliferation, migration and differentiation, and angiogenesis. However, EE2 reduced asymmetrically expressed genes to 21. RT-qPCR analysis indicated that genes promoting cell cycle progression and oncogenesis were more highly expressed in the left MD than in the right MD, but EE2 eliminated such asymmetric gene expression by increasing levels on the right side. EE2-exposed males showed overexpression of these genes in both MDs. This study reveals part of the molecular basis of xenoestrogen-induced abnormalities in avian reproductive organs, where EE2 may partly feminize gene expression in the left testis, developing as the ovotestis, and induce bilateral MD malformation by canceling asymmetric gene expression underlying MD development.


Assuntos
Coturnix , Etinilestradiol , Regulação da Expressão Gênica no Desenvolvimento , Ductos Paramesonéfricos , Testículo , Animais , Masculino , Testículo/efeitos dos fármacos , Testículo/metabolismo , Testículo/embriologia , Testículo/patologia , Coturnix/embriologia , Coturnix/genética , Etinilestradiol/toxicidade , Ductos Paramesonéfricos/efeitos dos fármacos , Ductos Paramesonéfricos/embriologia , Ductos Paramesonéfricos/anormalidades , Feminino , Regulação da Expressão Gênica no Desenvolvimento/efeitos dos fármacos , Embrião não Mamífero/efeitos dos fármacos , Feminização/induzido quimicamente , Feminização/genética
11.
J Clin Ultrasound ; 52(5): 619-628, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38549367

RESUMO

Robert's uterus is a rare Müllerian duct anomaly (MDA) characterized by complete asymmetric septum dividing uterine cavity into two non-communicating parts. This study offers insights into diagnosing and management of this condition in a young patient, and a systematic literature review. The review included 19 studies from 2013 to 2023. 11.4% of women reported a history of miscarriage and 5.7% primary infertility. Dysmenorrhea was the most frequent symptom (54.3%), and 14.3% of patients had a coexisting endometriosis. The surgical interventions most commonly combine laparoscopic and hysteroscopic techniques. Robert's uterus requires heightened clinical awareness for early diagnosis, particularly in young women.


Assuntos
Útero , Feminino , Humanos , Histeroscopia/métodos , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/cirurgia , Anormalidades Urogenitais/cirurgia , Anormalidades Urogenitais/diagnóstico por imagem , Útero/anormalidades , Útero/diagnóstico por imagem , Útero/cirurgia , Criança
12.
J Minim Invasive Gynecol ; 31(5): 367, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38325582

RESUMO

OBJECTIVE: The objective of this video is to demonstrate the diagnosis, evaluation, and techniques for surgical management of a longitudinal vaginal septum, a rare müllerian anomaly. DESIGN: This is a stepwise demonstration of evaluation and surgical techniques with video narration. SETTING: The incidence of müllerian defects, which can include any anomaly in the fallopian tube, uterus, cervix, or vagina, has been estimated to be 2% to 4% [1]; 30% to 40% of patients with müllerian defects also have associated renal anomalies [1,2]. In normal development, the müllerian ducts fuse at 10 weeks' gestation and the septum between the 2 ducts is absorbed in a caudal to cephalad direction [3]. The exact incidence of complete longitudinal vaginal septa is unknown as they are very rare [4]. Longitudinal vaginal septa may cause dyspareunia, inability to have penetrative intercourse, labor dystocia, or hygiene issues and be very emotionally distressing for patients [5]. INTERVENTIONS: Preoperative evaluation of an adult with longitudinal vaginal septum that included a careful physical examination and abdominal and pelvic imaging. Intraoperative resection with key strategies: (1) placing a Foley catheter to help avoid urinary tract injuries and (2) intermittent rectal examinations to retract the rectum away from the plane of dissection. CONCLUSION: Patients who present with longitudinal vaginal septa should undergo evaluation for uterine and renal anomalies. Here, we show that resection of longitudinal vaginal septa in adults is feasible and appropriate for patients who present with inability to have penetrative intercourse. Intraoperatively, care should be taken to avoid injuring the rectum or urinary tract.


Assuntos
Vagina , Humanos , Feminino , Vagina/anormalidades , Vagina/cirurgia , Adulto , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/cirurgia
13.
Fertil Steril ; 121(6): 1072-1074, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38403107

RESUMO

OBJECTIVE: To demonstrate the surgical approach for Müllerian agenesis with bilateral uterine remnants containing functional endometrium. DESIGN: Stepwise demonstration of the technique with narrated video footage. SETTING: Reproductive surgery unit of a tertiary university hospital. PATIENT: An 18-year-old adolescent was admitted to a tertiary university hospital with complaints of primary amenorrhea and cyclic pelvic pain. Physical examination and magnetic resonance imaging scans suggested a complex Müllerian abnormality. The patient had uterine remnants with bilateral functional endometrium and cervicovaginal agenesis. INTERVENTION: An operation was planned to reconstruct her anatomy by providing a neovagina and anastomosing the uterine remnants. Gonadotropin-releasing hormone analogs were prescribed to suppress her menstruation until the procedure. The operation was performed in the third month after the initial diagnosis. A laparoscopy was conducted, revealing approximately 5 × 6-cm bilateral uterine horns with healthy adnexa. As the first step, a neovagina was created using a modified peritoneal pull-down technique, a standard approach in our clinic. A vaginal incision was made, and a blind vaginal dissection was performed to reach the peritoneum vaginally. Subsequently, an acrylic vaginal mold was inserted. The vaginal orifice was laparoscopically incised using ultrasonic energy with guidance from the inserted vaginal acrylic mold. The orifice was gradually dilated with larger molds. The entire pelvic peritoneum was dissected circularly, and the distal part of the dissected peritoneum was pulled down using four 2.0 Vicryl sutures at 0°, 90°, 180°, and 270° from the opened vaginal orifice. The uterine cavities of both remnants were incised, and two separate Foley catheters were placed in both cavities. A mold with a hole was used to insert the catheters through the vagina. Both catheters were secured in the cavities with Prolene sutures pulled up from the anterior abdominal wall. The next step involved uterine anastomosis. The uterine remnants were unified through continuous suturing, resulting in the formation of a normally shaped uterus. In the final step, the created uterus and neovagina were anastomosed. The patient received instructions on how to perform mold exercises and follow-up care. MAIN OUTCOME MEASURE: Description of laparoscopic management of a rare Müllerian abnormality. RESULTS: The postoperative magnetic resonance imaging scan at 1 month revealed healed unified uterine cavities and vagina. The patient experienced spontaneous menstruation in the second month after surgery and now maintains regular menses with an approximately 9-10 cm functional vagina. Within 3 months after surgery, the visual analogue scale scores for chronic pelvic pain and dysmenorrhea decreased from 9 to 2-3. CONCLUSIONS: Müllerian abnormalities are exceptionally rare, and their spectrum is broad, making it challenging to identify an exact surgical method to restore functional anatomy. Therefore, a customized surgical approach should be designed for each patient on the basis of their unique condition.


Assuntos
Ductos Paramesonéfricos , Útero , Vagina , Humanos , Feminino , Vagina/cirurgia , Vagina/anormalidades , Vagina/diagnóstico por imagem , Adolescente , Útero/anormalidades , Útero/cirurgia , Útero/diagnóstico por imagem , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/cirurgia , Ductos Paramesonéfricos/diagnóstico por imagem , Peritônio/cirurgia , Peritônio/diagnóstico por imagem , Peritônio/anormalidades , Estruturas Criadas Cirurgicamente , Anormalidades Congênitas/cirurgia , Anormalidades Congênitas/diagnóstico por imagem , Resultado do Tratamento , Laparoscopia , Anormalidades Urogenitais/cirurgia , Anormalidades Urogenitais/diagnóstico por imagem , Procedimentos Cirúrgicos em Ginecologia/métodos , Transtornos 46, XX do Desenvolvimento Sexual
15.
J Pediatr Adolesc Gynecol ; 37(3): 353-359, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38246338

RESUMO

OBJECTIVE: To analyze the features of the epithelia coating neovaginas after vaginoplasty in women affected by Mayer-Rokitansky-Küster-Hauser syndrome STUDY DESIGN: We conducted a retrospective analysis of prospectively collected data. Women affected by Rokitansky syndrome who underwent neovaginal biopsy after vaginoplasty (McIndoe surgery, intestinal vaginoplasty, Vecchietti surgery, and Davydov surgery) were included. Macroscopic mucosal features were assessed through clinical examination and the Schilling test. Each biopsy specimen was prepared for examination by light microscopy and in some cases by scanning electron microscopy (SEM). RESULTS: Thirty-six patients (4 McIndoe, 2 intestinal vaginoplasty, 14 Vecchietti, and 16 Davydov) were included. All biopsies were performed without complications. In McIndoe's neovaginas, the mucosal microscopic features were similar to normal skin, with large areas of preserved epithelium, heterogeneous presence of dermal papillae, and superficial keratinization. The characteristics of the intestinal neovagina's surface were similar to those of a sigmoid colon, with well-shaped glands, cylindrical cells, and a secreting mucosa. In Vecchietti neovaginas, the surface the epithelium was flat and multilayered, highly similar to that of a normal vagina, with the presence of glycogen and superficial desquamation. On medium SEM magnification evaluation, the epithelium presented flattened polygonal cells. Finally, in Davydov neovaginas, none of the specimens had persistent mesothelial elements. The squamous neo-epithelium had regular aspects of differentiation with the presence of glycogen. At greater SEM magnification, microridges were evident, with a regular distribution. CONCLUSION: Each different technique of vaginoplasty leads to unique histological and structural features of the neovagina's mucosa. Knowledge of these elements must be the basis for the choice of the most appropriate intervention.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Anormalidades Congênitas , Ductos Paramesonéfricos , Vagina , Humanos , Feminino , Vagina/cirurgia , Vagina/anormalidades , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Transtornos 46, XX do Desenvolvimento Sexual/patologia , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/cirurgia , Anormalidades Congênitas/cirurgia , Estudos Retrospectivos , Adolescente , Útero/anormalidades , Útero/cirurgia , Estruturas Criadas Cirurgicamente , Adulto , Epitélio/patologia , Adulto Jovem , Procedimentos de Cirurgia Plástica/métodos , Biópsia , Somitos/anormalidades , Microscopia Eletrônica de Varredura
16.
Arch Gynecol Obstet ; 309(3): 801-812, 2024 03.
Artigo em Inglês | MEDLINE | ID: mdl-37466686

RESUMO

PURPOSE: This systematic review aims to provide a data synthesis about the risk of neovaginal cancer in women with Müllerian anomalies and to investigate the association between the adopted reconstructive technique and the cancer histotype. METHODS: PubMed, MEDLINE, Embase, Scopus, ClinicalTrials.gov and Web of Science databases were searched from inception to March 1st, 2023. Studies were included if: (1) only women affected by Müllerian malformations were included, (2) the congenital defect and the vaginoplasty technique were clearly reported, (3) the type of malignancy was specified. RESULTS: Literature search yielded 18 cases of squamous cell carcinoma and two cases of vaginal intraepithelial neoplasia 3 (VAIN 3). Of these, 3 had been operated on according to the Wharton technique, 8 according to the McIndoe technique, 3 with a split-skin graft vaginoplasty, 2 according to the Davydov technique, 2 with a simple cleavage technique, 1 according to the Vecchietti technique and 1 with a bladder flap vaginoplasty. A total of 17 cases of adenocarcinoma and 1 case of high-grade polypoid dysplasia were also described. Of these, 15 had undergone intestinal vaginoplasty, 1 had been operated on according to the McIndoe technique and 1 had undergone non-surgical vaginoplasty. Finally, 1 case of verrucous carcinoma in a woman who had undergone a split-skin graft vaginoplasty, was reported. CONCLUSION: Although rare, neovaginal carcinoma is a definite risk after vaginal reconstruction, regardless of the adopted technique. Gynaecologic visits including the speculum examination, the HPV DNA and/or the Pap smear tests should be scheduled on an annual basis.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Adenocarcinoma , Carcinoma de Células Escamosas , Anormalidades Congênitas , Procedimentos de Cirurgia Plástica , Neoplasias Vaginais , Humanos , Feminino , Vagina/patologia , Neoplasias Vaginais/cirurgia , Neoplasias Vaginais/patologia , Carcinoma de Células Escamosas/patologia , Adenocarcinoma/patologia , Ductos Paramesonéfricos/cirurgia , Ductos Paramesonéfricos/anormalidades , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Anormalidades Congênitas/cirurgia , Anormalidades Congênitas/patologia , Procedimentos Cirúrgicos em Ginecologia/métodos , Resultado do Tratamento
17.
J Pediatr Adolesc Gynecol ; 37(1): 67-71, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37704034

RESUMO

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) is a multi-system neurodevelopmental condition caused by deficiency of CREBBP (16p13.3) or EP300 (22q13.2). Müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, is defined as congenital agenesis of the uterus, cervix, and upper vagina without a definite genetic cause. INDEX CASE AND CASE SERIES: We present a 14-year-old female with RSTS type 1 (CREBBP, c.4395-2A>C) and MRKH, the first documented in the literature. Following presentation to Gynecology for anticipatory guidance regarding future menstrual suppression and follow-up of previously diagnosed labial adhesions, exam under anesthesia revealed a single urogenital opening with cystoscopy demonstrating a normal urethra and bladder. Laboratory evaluation was consistent with peripubertal female gonadotropins and estradiol, 46,XX karyotype, and normal microarray, and a pelvic MRI confirmed Müllerian agenesis. Given this case, we assessed our cohort of females with RSTS and found that 4 of 12 individuals also had Müllerian anomalies. CONCLUSION: Gynecologic evaluation should be a part of medical care for females with RSTS, particularly in individuals with delayed menarche or abnormal menstrual history, on the basis of the observed association between RSTS and Müllerian anomalies in this case series. Although several candidate genes and copy number variants are associated with MRKH, no candidate genes in close proximity to the 16p13.3 region have been identified to explain both RSTS and MRKH in the index patient. Due to the regulatory nature of CREBBP during embryonic development, we theorize that CREBBP may play a role in the migration of Müllerian structures during embryogenesis.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Produtos Biológicos , Anormalidades Congênitas , Síndrome de Rubinstein-Taybi , Feminino , Humanos , Adolescente , Síndrome de Rubinstein-Taybi/genética , Vagina/anormalidades , Transtornos 46, XX do Desenvolvimento Sexual/diagnóstico , Ductos Paramesonéfricos/anormalidades , Anormalidades Congênitas/genética , Anormalidades Congênitas/diagnóstico
18.
Tissue Eng Regen Med ; 21(2): 277-290, 2024 02.
Artigo em Inglês | MEDLINE | ID: mdl-37947984

RESUMO

BACKGROUND: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a severe congenital disorder characterized by vaginal hypoplasia caused by dysplasia of the Müllerian duct. Patients with MRKH syndrome often require nonsurgical or surgical treatment to achieve satisfactory vaginal length and sexual outcomes. The extracellular matrix has been successfully used for vaginal reconstruction. METHODS: In this study, we developed a new biological material derived from porcine vagina (acellular vaginal matrix, AVM) to reconstruct the vagina in Bama miniature pigs. The histological characteristics and efficacy of acellularization of AVM were evaluated, and AVM was subsequently transplanted into Bama miniature pigs to reconstruct the vaginas. RESULTS: Macroscopic analysis showed that the neovaginas functioned well in all Bama miniature pigs with AVM implants. Histological analysis and electrophysiological evidence indicated that morphological and functional recovery was restored in normal vaginal tissues. Scanning electron microscopy showed that the neovaginas had mucosal folds characteristics of normal vagina. No significant differences were observed in the expression of CK14, HSP47, and α-actin between the neovaginas and normal vaginal tissues. However, the expression of estrogen receptor (ER) was significantly lower in the neovaginas than in normal vaginal tissues. In addition, AVM promoted the expression of ß-catenin, c-Myc, and cyclin D1. These results suggest that AVM might promotes vaginal regeneration by activating the ß-catenin/c-Myc/cyclin D1 pathway. CONCLUSION: This study reveals that porcine-derived AVM has potential application for vaginal regeneration.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Anormalidades Congênitas , Ciclina D1 , Ductos Paramesonéfricos/anormalidades , Engenharia Tecidual , Humanos , Feminino , Suínos , Animais , beta Catenina , Porco Miniatura , Vagina/anormalidades , Vagina/cirurgia
19.
Sex Transm Dis ; 51(2): 128-131, 2024 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-37934163

RESUMO

ABSTRACT: Mayer-Rokitansky-Küster-Hauser syndrome is a congenital disorder typified by an underdeveloped female reproductive tract. An exploratory online survey of adults with Mayer-Rokitansky-Küster-Hauser syndrome found that many did not recall receiving the human papillomavirus vaccine, and answers to knowledge questions suggested inadequate human papillomavirus counseling. However, recalled vaccine counseling was associated with improved uptake.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Anormalidades Congênitas , Genitália Feminina , Adulto , Humanos , Feminino , Transtornos 46, XX do Desenvolvimento Sexual/prevenção & controle , Ductos Paramesonéfricos/anormalidades
20.
Int Urogynecol J ; 35(2): 467-470, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37823899

RESUMO

INTRODUCTION AND HYPOTHESIS: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a condition with an underdeveloped or absent vagina and uterus due to embryological growth failure of the Müllerian ducts. Many techniques have been described to construct a neovagina with an acceptable depth that allows penetrative intercourse. This is a step-by-step video tutorial on the Wharton-Sheares-George surgical technique for vaginoplasty in patients with MRKH syndrome. METHOD: With Wharton-Sheares-George vaginoplasty, the rudimentary Müllerian ducts are incrementally dilated by pushing Hegar dilators in the direction of the pelvic axis, and the resulting median raphe is then intersected using diathermy. As a result, a neovagina is created and an estriol-coated vaginal mold is inserted for 3 days. The patient receives comprehensive discharge instructions, a self-dilation program three times a day, and a monthly follow-up. RESULTS: A 3-month follow-up showed a high subjective degree of satisfaction with surgery and sexual satisfaction in both patients. CONCLUSION: Wharton-Sheares-George vaginoplasty is a safe and efficient technique for creating a neovagina for patients with MRKH syndrome.


Assuntos
Transtornos 46, XX do Desenvolvimento Sexual , Anormalidades Congênitas , Ductos Paramesonéfricos , Ductos Paramesonéfricos/anormalidades , Feminino , Humanos , Ductos Paramesonéfricos/cirurgia , Útero/cirurgia , Transtornos 46, XX do Desenvolvimento Sexual/cirurgia , Vagina/cirurgia
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