Rokitanski

Zinner syndrome, a rare congenital anomaly affecting males, is characterized by atresia of the ejaculatory duct, seminal vesicle cysts, and ipsilateral renal agenesis. This case report details a 2-year-old boy successfully treated with laparoscopic excision of a dilated vas deferens and seminal vesicle cyst. The rarity of Zinner syndrome in pediatric patients underscores the importance of understanding its diagnosis and minimally invasive surgical management.

AIMS: Significance of peribiliary capillary plexus (PCP) in gallbladder neoplasms remains unclear. Aims are to characterize high-grade biliary intraepithelial neoplasm (BilIN), pyloric gland adenoma (PGA), and intracholecystic papillary neoplasm (ICPN), precursors of gallbladder carcinoma, and to differentiate invasive carcinoma from pseudo-invasive lesions in gallbladder walls, referring to PCP. MATERIALS AND METHODS: BilIN (38 cases), PGA (5 cases), and ICPN (25 cases) were examined using capillary immunostaining...

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...

PURPOSE: Complete androgen insensitivity syndrome (CAIS) and Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) share common clinical features such as female phenotype, vaginal hypoplasia, and primary amenorrhea. Magnetic resonance imaging (MRI) is performed to investigate the cause of primary amenorrhea. However, the MRI features are also similar in both disorders. They are ultimately diagnosed by chromosome testing, but there is a possibility of misdiagnosis if chromosome testing is not performed...

The molecular basis of mullerian aplasia, also known as Mayer-Rokitansky-Kuster Hauser (MRKH) or congenital absence of the uterus and vagina, is largely unknown. We applied a multifaceted genetic approach to studying the pathogenesis of MRKH including exome sequencing of trios and duos, genome sequencing of families, qPCR, RT-PCR, and Sanger sequencing to detect intragenic deletions, insertions, splice variants, single nucleotide variants, and rearrangements in 132 persons with MRKH. We identified two heterozygous variants in ZNHIT3 localized to a commonly involved CNV region at chromosome 17q12 in two different families with MRKH...

KEY CLINICAL MESSAGE: Incidence of bilateral inguinal hernia encompassing bilateral ovaries in adult female is very thin and concomitant association with Mayer-Rokitansky-Küster-Hauser syndrome is out of ordinary. Along with surgical management of hernia, these females need multidisciplinary slant to manage gynecological, social, and emotional issues. ABSTRACT: In mature females, bilateral ovarian inguinal hernias are a rarity. In this situation, ultrasonography is the basic adjunct to confirm the diagnosis...

BACKGROUND: Müllerian agenesis, known as Mayer-Rokitansky-Küster-Hauser syndrome, is characterized by an absent uterus, cervix, and two-thirds proximal vagina (1). To allow sexual intercourse, dilatators-based conservative approaches and Vecchietti vaginoplasty generate progressive traction on the vaginal stump until adequate vaginal size is achieved. Other approaches create the neovagina using mucous/cutaneous, peritoneal, or ileal/sigmoid grafts or cutaneous flaps from the genitalia to fulfill a newly developed space between the bladder and rectum...

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...

STUDY OBJECTIVE: The diagnosis of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is often a lengthy process that typically occurs during late adolescence. To support optimized and patient-centered care, this study aimed to investigate how women with MRKH syndrome experience the diagnostic process. METHODS: From January 2021 to March 2021, we conducted in-depth interviews with 18 Danish women (≥25 years) diagnosed with MRKH syndrome. The interviews lasted a median of 92 minutes (range: 67-117)...

Management of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser syndrome patients is by creating functional neovagina through surgical or nonsurgical route. Surgical repair using minimally invasive technique is a favorable option in creating neovagina. In this study, the patients underwent neovaginoplasty. Clinical follow-ups were done at 3, 6, and 12 months postoperatively. The primary outcomes were anatomic and functional successes; anatomical success was defined as a ≥6 cm-long neovagina that allows for easy introduction of two fingers, and functional success was defined with Female Sexual Function Index FSFI-6 questionnaire score above 19...

OBJECTIVE: This study aimed to describe the clinical features, associated extragenital anomalies, and management of Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome in a Thai population. METHODS: This retrospective study analyzed the medical records of 96 patients with MRKH syndrome diagnosed and treated at a university hospital and tertiary referral center in southern Thailand between 2000 and 2022. RESULTS: The study included 96 patients with MRKH syndrome...

A case report of a premenarcheal patient with ovarian torsion and mullerian agenesis is presented. A 12-year-old prepubertal girl is presented with severe right lower quadrant abdominal pain and mild rebound. Laparoscopy showed mullerian agenesis and twisted right adnexa. Detorsion and cystectomy of the right ovary were done, and the ovary was fixed to the pelvic sidewall. The postoperative course was uneventful. An association between the lax attachment of the adnexa and torsion may be a contributing factor in this condition...

Uterus transplantation (UTx) is currently the only available treatment for absolute uterine factor infertility. More than 90 uterus transplantations have been performed worldwide, mostly from living donors. Living-donor (LD) UTx is a challenging surgical procedure since it poses ethical issues, and it is a high-risk and invasive surgery with higher hysterectomy-related risks compared to conventional hysterectomy. A total of 59 living-donor hysterectomies have been reported in the literature, including 35 performed with a laparotomic approach, 20 with a robotic approach and 4 with a laparoscopic approach...

Congenital malformations of the female genital organs are rare anomalies and their incidence is estimated to be up to 7% in the general population. Müllerian ducts abnormalities are one of the causes of infertility and occur in approximately 16% of women with recurrent miscarriages. Sex development disorders are diagnosed at different stages of the patient's life depending on the accompanying ailments. Alarming signs of genital malformations include primary amenorrhea or dysmenorrhea, dyspareunia, and periodic abdominal pain...

The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a condition that affects a small proportion of female individuals at birth, resulting in the absence or underdevelopment of reproductive organs. However, this case report introduces overactive bladder (OAB) and vulvodynia, conditions that have not been previously reported in MRKH patients. The 36-year-old patient began developing breast tissue around the age of 12 but never experienced menstruation. Simultaneously, she started experiencing discomfort in the genital region and frequent urination...

The Mayer-Rokitansky-Küster-Hauser syndrome is characterized by aplasia of the uterus and upper two-thirds of the vagina. While it can appear as an isolated genital malformation, it is often associated with extragenital abnormalities, with little still known about the pathogenetic background. To provide an overview of associated malformations and syndromes as well as to examine possible ties between the rudimentary tissue and patient characteristics, we analyzed a cohort of 469 patients with MRKHS as well as 298 uterine rudiments removed during surgery...

Superficial esophageal cancer (SEC) in a diverticulum is rare and has a high risk of perforation during endoscopic resection. Although endoscopic submucosal dissection (ESD) is a standard treatment option, it is challenging to perform. Here, we describe the case of a 79-year-old male patient with a history of ESD for SEC. Surveillance esophagogastroduodenoscopy identified a 20-mm-sized reddish depressed lesion in a diverticulum in the middle esophagus. The lesion was confirmed to be squamous cell carcinoma by biopsy...

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's surgery and Davydov surgery) were included. Macroscopic mucosal features were assessed through clinical examination and Shilling test...

Infertility affects around 1 in 5 couples in the world. Congenital absence of the uterus results in absolute infertility in females. Müllerian agenesis is the nondevelopment of the uterus. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a condition of uterovaginal agenesis in the presence of normal ovaries and the 46 XX Karyotype. With advancements in reproductive techniques, women with MA having biological offspring is possible. The exact etiology of MA is unknown, although several genes and mechanisms affect the development of Müllerian ducts...

BACKGROUND: This study presents the initial case of phlegmonous enteritis following endoscopic submucosal dissection (ESD), a rare and potentially fatal complication. Additionally, a comprehensive review of relevant literature is provided. CASE REPORT: A 66-year-old female patient, diagnosed with Hashimoto's thyroiditis and thrombocytopenia, underwent ESD to address a laterally spreading tumor located in the ascending colon. After the procedure, the patient manifested abdominal pain and a high fever, was diagnosed with peritonitis, necessitating an emergency exploratory laparotomy and right hemicolectomy...