Mullerian anomalies

Mullerian anomalies occur as a result of errors during embryogenesis. The estimated incidence of these anomalies is around 1% in the general population and 3% in women complaining of suboptimal reproductive outcomes and infertility. A 21-year-old female patient was referred to our hospital due to primary infertility for 18 months. After a proper history, physical examination and further diagnostic steps, including ultrasound and magnetic resonance imaging, a diagnosis of complete septate uterus with septate cervix and longitudinal vaginal septum was made...

BACKGROUND: Relaparotomy following a cesarean delivery (CD) is an infrequent complication, with inconsistency regarding risk factors and indications for its occurrence. We therefore aimed to determine risk factors and indications for a relaparotomy following a CD at a single large tertiary center. METHODS: A retrospective case-control single-center study (2013-2023). We identified all women who had a relaparotomy up to six weeks following a CD (study group). Maternal characteristics, obstetrical and surgical data were compared to a control group in a 1:2 ratio...

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...

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...

The transverse vaginal septum, a rare Müllerian duct anomaly, presents diagnostic and therapeutic challenges owing to its variable location, thickness, and potential association with uterine malformations. Therefore, an accurate diagnosis and selection of an appropriate treatment are important. Herein, the case of a 28-year-old nonpregnant woman with sexual dysfunction attributable to a transverse vaginal septum is presented. The septum, approximately 5 mm thick, was situated low on the vaginal wall near the urethral opening, with a small central aperture...

It is unclear whether clinical background differs between endometriosis in adolescent patients with obstructive Müllerian anomalies and those without anomalies. The aim of the study is to identify the difference in clinical characteristics of endometriosis in patients with or without obstructive Müllerian anomalies. The study involved 12 patients aged under 24 years old who underwent primary surgery for obstructive Müllerian anomalies and 31 patients aged under 24 years old who underwent surgery for ovarian endometrioma...

INTRODUCTION AND IMPORTANCE: Longitudinal vaginal septum is usually associated with uterine anomalies, such as septate uterus and didelphys uterus. Normal uterus and cervix found in longitudinal vaginal septum is a rare case but can affect sexual activities and reproductive outcomes. CASE PRESENTATION: We present a case of a 42-year-old woman with a history of primary infertility for 7 years was referred by the endocrinology division due to the presence of a longitudinal vaginal septum and difficulty in performing intrauterine insemination...

Uterine malformations significantly affect the reproduction process, and such anomalies can affect the progression and prognosis of a pregnancy. A bicornuate uterus is a rare congenital uterine anomaly that occurs due to a defect in the fusion of Müllerian ducts. It is associated with severe maternal and fetal complications, such as uterine rupture, vascular-related pathologies, preterm labor and birth, recurrent early or late loss of pregnancy, and fetal growth restriction. In such scenarios, close monitoring and ultrasound screening are needed to prevent obstetric complications...

KEY CLINICAL MESSAGE: OHVIRA syndrome can be misdiagnosed due to its rarity, resulting in the need for more invasive interventions than vaginoscopy. Also, delayed diagnosis of OHVIRA syndrome can affect patient's quality of life by leading to chronic gynecological diseases such as endometriosis and pelvic inflammatory disease. ABSTRACT: Obstructive hemivagina and ipsilateral renal agenesis (OHVIRA) syndrome is one of the infrequent congenital Mullerian duct anomalies characterized by obstructed hemivagina and ipsilateral renal agenesis...

Primary amenorrhoea due to Müllerian malformations is rare, with 1 in 4500 cases and 2%-8% of cases presenting as infertility. Obstructive Müllerian anomalies present as hematometra and hematocolpos during puberty. Timely surgical intervention is required to relieve acute pelvic pain and restore functional anatomy. A 15-year-old girl presented to OPD with complaints of severe pain in her lower abdomen and lower back for the last 2-3 weeks, not relieving on medication. She has not attained menarche and has been having cyclical pain and low backache for 7-8 days every month for the last year...

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Accurate diagnosis of Müllerian duct anomalies (MDA) remains a clinical challenge even by direct surgical inspection. Although obstetrical complications are more frequent in women with MDA, some subtypes allow normal reproduction, further delaying the diagnosis. Unicornuate uterus with a rudimentary non-communicating functioning horn is a rare form of MDA, susceptible to many gynecologic and obstetric complications such as miscarriages, premature birth, hematosalpinx, endometriosis, and chronic pelvic pain...

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...

Complex congenital heart disease is often accompanied by extracardiac manifestations; , the significance of genitourinary involvement remains unclear. We present 3 patients with palliated complex congenital heart disease and with pregnancies complicated by premature delivery who were found to have congenital uterine anomalies that may have contributed to their obstetrical complications.

We present a simple surgical technique aiming to improve urine outflow through the common urogenital sinus in cloaca and facilitate drainage of existing hydrocolpos. The study included three cases of cloaca with associated hydrocolpos that were operated during the period 2022 through 2023. The patient is placed in the prone position for a standard posterior sagittal anorectoplasty. The distal rectal fistula is severed flush with the vagina/sinus leaving an open defect in the posterior wall of the vagina/sinus...

INTRODUCTION: Accessory cavitated uterine malformation (ACUM) is a relatively recent term used to describe a noncommunicating, accessory uterine cavity. ACUM have been published under different terms ranging from juvenile cystic adenomyosis to "uterus-like mass". The objective of this study was to systematically identify all cases of ACUM and definitions described in the literature, regardless of label, and identify morphological, epidemiological, and clinical characteristics as well as management, while also highlighting knowledge gaps...

BACKGROUND: Non-communicating rudimentary horn pregnancy (NCRHP) lead to life-threatening condition for both mother and fetus. Early diagnosis of NCRHP and laparoscopic resection is important to prevent catastrophic conditions. However, delayed diagnosis until the second or third trimester makes it difficult to accurately diagnose between NCRHP and bicornuate uterine pregnancy, as both conditions present uterine rupture and massive hemoperitoneum. Furthermore, these rare cases are challenging in pregnancy trials and associated with adverse outcomes in subsequent pregnancies...

OBJECTIVE: The objective of this video is to demonstrate the diagnosis, evaluation, and techniques for surgical management of a longitudinal vaginal septum, a rare Mullerian anomaly. DESIGN: This is a stepwise demonstration of evaluation and surgical techniques with video narration. SETTING: The incidence of Mullerian defects, which can include any anomaly in the fallopian tube, uterus, cervix, or vagina, has been estimated to be 2-4%.1 30-40% of patients with Mullerian defects also have associated renal anomalies...

Background: Preterm birth (PTB) poses a significant global health challenge and focused research is vital for improving maternal and neonatal health outcomes. The purpose of this study was to determine the effect of oxidative stress (OS) and DNA damage on PTB. Methods: There were two groups: (a) cases consisting of mothers with PTB (<37 weeks of gestation, n = 100) and (b) controls consisting of mothers with term birth (>37 weeks of gestation, n = 100). Women with vaginal infection, non-cephalic presentation, multiple gestations, fetal anomalies, Cesarean delivery, pregnancy with Mullerian anomalies, or preeclampsia were excluded from the study...

BACKGROUND: Müllerian duct anomalies (MDAs) are congenital developmental disorders exhibiting as a variety of malformations of female reproductive tract. The identified etiology of MDAs is limited. The present study aimed to unravel the underlying genetic causes of MDAs. METHODS: Rare variants in androgen receptor (AR) were called from the cohort consists of patients with MDAs and underwent whole exome sequencing (WES) at Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China...