"Unilateral renal agenesis"

UNLABELLED: Herlyn-Werner-Wunderlich syndrome (HWWS) is a rare developmental anomaly of the female reproductive system caused by a failure of fusion during Mullerian duct development. The triad of uterus didelphys, obstructed hemivagina, and ipsilateral renal agenesis characterizes HWWS. The most common presenting symptoms are dysmenorrhoea, pelvic pain, primary infertility in later years, and an abdominal mass due to hematometrocolpos. CASE PRESENTATION: A 17-year-old girl presented to the authors' department with recurrent low back pain, which was neither responsive to analgesics nor associated with urinary complaints, vomiting, or fever...

Zinner syndrome is a rare developmental anomaly of the distal Wolffian duct. It is characterized by a triad of unilateral renal agenesis, cysts in the ipsilateral seminal vesicle, and ipsilateral obstruction of the ejaculatory duct. While some patients are asymptomatic and diagnosed incidentally, other patients may present with symptoms related to obstructed ejaculatory ducts and seminal vesicle cysts. We report a unique case of a 32-year-old male who presented with pelvic pain for three days.

OBJECTIVE: This study was performed to investigate the molecular characteristics and frequency of copy number variations (CNVs) of ANOS1 in patients with Kallmann syndrome (KS) or normosmic isolated hypogonadotropic hypogonadism (nIHH) using multiplex ligation-dependent probe amplification (MLPA) analysis and sequencing. METHODS: Among 45 patients from 43 independent families, Sanger sequencing, next-generation sequencing (NGS), or microarray was performed in 24 patients from 23 families, and MLPA was performed in 19 patients who did not show rare sequence variants (n = 18) or ANOS1 amplification by PCR (n = 1)...

Zinner's syndrome is a rare congenital disorder presenting with unilateral renal agenesis or dysgenesis, ipsilateral seminal vesicle cysts, and ejaculatory duct obstruction. Treatment of this syndrome can be conservative or surgical. In this case report, we describe the case of a 72-year-old patient who was diagnosed with Zinner's syndrome and underwent laparoscopic radical prostatectomy for prostate cancer treatment. The peculiarity of our case was that the patient's ureter emptied ectopically into the left seminal vesicle, which was notably enlarged and multicystic in appearance...

BACKGROUND: Solitary kidney (SK) affects 1/1000 people worldwide, and there are controversies concerning renal outcomes in these patients. This study aimed to investigate clinical findings and renal outcomes in children with SK and to compare the results for congenital (CSK) and acquired SK (ASK) groups. METHODS: The study included patients that presented to our pediatric nephrology department with SK between January 2010 and January 2021. Demographic and clinical data were recorded retrospectively...

Congenital absence of the vas deferens (CAVD) is a major cause of obstructive azoospermia. Mutations of CFTR and ADGRG2 cause the majority of CAVD. Despite this, 10%-20% of CAVD patients remain without a clear genetic diagnosis. Herein, the CFTR and ADGRG2 genes were first sequenced using Sanger sequencing in 50 CAVD patients. Whole-exome sequencing (WES) was used to further identify potential novel genetic causes in CAVD with hypospadias. In total, 29 of 50 CAVD patients carried at least one CFTR mutation, but no ADGRG2 mutation was found...

OHVIRA syndrome (or Herlyn-Werner-Wunderlich syndrome) is a rare condition, consisting classically of obstructed hemi-vagina with ipsilateral renal agenesis. It may be associated with complex uterine malformations and more rarely with lower urinary tract anomalies. The contralateral kidney usually has normal function. A genetic etiology of this syndrome has not yet been confirmed. We report a patient who was diagnosed to have unilateral renal agenesis in early childhood, and then presented after menarche with features of OHVIRA syndrome...

Zinner syndrome is a less common birth anomaly of the Wolffian duct consisting of unilateral kidney absence, ipsilateral ejaculatory duct obstruction, and seminal vesicle cyst. A failure of embryogenesis of the ureteric bud between the fourth and 13th week of gestation results in Zinner syndrome. Conservative treatment is recommended for asymptomatic patients, whereas invasive treatment is reserved for symptomatic patients and for those who have failed conservative treatment. In this case report, we describe the non-specific presentation of lower abdominal pain and dysuria, as well as episodes of hematuria and new-onset hypertension, in a male patient, who was otherwise deemed healthy, with no other previous medical or surgical history...

A triad of unilateral renal agenesis, ipsilateral seminal vesicle cyst and ipsilateral ejaculatory duct obstruction has been called Zinner syndrome since its first description in 1914 by Zinner. It is a very rare congenital abnormality of the male genitourinary tract due to abnormal embryologic development of the Wolffian ducts. There have been several case reports from different parts of the world about the clinical and imaging findings of these anomaly. In this case report, we present the first case report of Zinner syndrome in a 28-year-old male Ethiopian patient...

AIM: To evaluate the presentations of Müllerian duct anomalies (MDAs) associated with unilateral renal agenesis (URA) on magnetic resonance imaging (MRI). MATERIALS AND METHODS: From 2014 to 2021, 92 patients with MDAs coexisting with URA who had undergone MRI were reviewed, and imaging patterns were analysed. RESULTS: Based on the different imaging patterns, there were 74 cases of Herlyn-Werner-Wunderlich (HWW) syndrome (80.4%), nine cases of unicornuate uterus (10...

One of the uncommon urogenital malformations in males, which presents late in the second or third decades of life, is the congenital malformation of the seminal vesicle. Zinner syndrome is a rare condition comprising a triad of unilateral renal agenesis, ipsilateral seminal vesicle obstruction, and ipsilateral ejaculatory duct obstruction. Very few cases in the literature describe the malignant change in seminal vesicle cyst in Zinner syndrome. To the best of our knowledge, this is the first report of a papillary neoplasm of the seminal vesicle cyst developed in a patient with Zinner syndrome...

Zinner syndrome is a rare congenital triad of mesonephric duct abnormality encompassing unilateral renal agenesis or dysgenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction. Literature has reported 214 cases, with the most common presentation being lower urinary tract symptoms and abdominal pain. Most cases are incidentally diagnosed, and MRI has been the choice of radiological diagnosis. We report the case of an 81-year-old male who presented with a three-month history of a fungating elbow lesion, elbow pain, and weight loss...

A functioning noncommunicating rudimentary horn is a rare uterine malformation. The presence of rudimentary uterine horn with adenomyosis is even rarer situation. Clinical presentation varies from mild pain that might present late in the clinical course with complications that can be gynecological such as pelvic pain and endometriosis or obstetrical such as preterm delivery, cesarean section, and ectopic pregnancy. We are reporting a case of a young woman who presented with acute abdominal pain that was superimposed by chronic pelvic pain due to endometriosis and deep pelvic vein thrombosis secondary to an enlarging noncommunicating rudimentary uterine horn containing extensive adenomyosis...

Congenital renal anomalies are among the most common birth defects. They are often detected antenatally. If not, they can manifest in adulthood with variable clinical presentations. Herein, we present a case of a 72-year-old male patient who was incidentally found to have an extremely rare combination of urinary tract defects comprising: right-sided unilateral renal agenesis, blind ureter, and ectopic ureterocele.

Congenital anomalies of the kidney and urinary tract (CAKUT) are frequently associated with Mullerian anomalies. This can be explained by the fact that Mullerian duct elongation depends on the preformed Wolffian duct during embryogenesis. While CAKUT such as unilateral renal agenesis and multicystic dysplastic kidney are commonly identified prenatally by routine ultrasound, the diagnosis of Mullerian anomalies is often delayed, increasing the risk of complications such as endometriosis or pelvic inflammatory disease...

OBJECTIVES: Congenital hypogonadotropic hypogonadism (CHH) is a rare congenital gonadal dysplasia caused by defects in the synthesis, secretion or signal transduction of hypothalamic gonadotropin releasing hormone. The main manifestations of CHH are delayed or lack puberty, low levels of sex hormones and gonadotropins, and may be accompanied with other clinical phenotypes. Some patients with CHH are also accompanied with anosmia or hyposmia, which is called Kalman syndrome (KS). ANOS1 , located on X chromosome, is the first gene associated with CHH in an X-linked recessive manner...

Caesarean section with associated ureteric injuries that damage kidney function is uncommon. Such injury in women with a solitary kidney has far-reaching effects if the diagnosis is delayed. The case report describes the successful acute management with stenting of ureteric damage after caesarean section in a woman with a solitary kidney. A 29-year-old woman presented with anuria, hypertension (174/101 mmHg) and flank pain 3 days after caesarean section. Physical examination was significant for peri-orbital oedema, left flank tenderness, pallor and delirium...

Obstructed hemivagina and ipsilateral renal anomaly syndrome also known as Herlyn-Werner-Wunderlich syndrome is a rare congenital urogenital anomaly characterised by Mullerian duct anomalies associated with mesonephric duct anomalies. A 10-year old female presented with acute lower abdominal pain, urinary retention and scanty menstrual flow during her first menstruation. Ultrasonography and contrast computed tomography showed uterine didelphys, hematocolpos, obstructed hemivagina and left renal agenesis. Hemivaginal septal resection and drainage of the hematocolpos were done and operative findings also confirmed the final diagnosis...

INTRODUCTION: Despite the well-established embryological relationship in the development of renal and Müllerian structures, no clear guidelines exist regarding screening for Müllerian anomalies (MA) in the setting of a renal anomaly (RA). Delayed diagnosis of MA can have significant reproductive consequences. OBJECTIVE: To investigate the prevalence of coexisting MA in patients with congenital RA. STUDY DESIGN: This is a retrospective cohort study of females age 12-35 years with a diagnosis of RA, identified by diagnosis codes, who were followed for care between 2013 and 2020...

Zinner Syndrome is a rare urogenital tract anomaly with unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ipsilateral ejaculatory duct obstruction. The syndrome occurs due to an insult to the development of the paramesonephric duct during embryogenesis. Patients may present late due to dysejaculation as a result of obstruction of the ejaculatory duct or commonly remain asymptomatic. Here, we present such a case presenting with dysejaculation which was diagnosed with Zinner syndrome on ultrasound...