Herlyn–Werner–Wünderlich syndrome: An unusual case with presentation of menorrhagia

ObjectiveHerlyn–Werner–Wünderlich (HWW) syndrome is a rare condition in which patients present with a palpable pelvic mass and pain caused by an obstructed hemivagina. Here we present a case of HWW syndrome characterized by prolonged menstrual bleeding.Case reportA 19-year-old nonsexually active unmarried women experienced irregular menstrual cycles and menorrhagia. The duration of menstrual bleeding was 10–14 days. She also suffered from mild dysmenorrhea since menarche at the age of 13. Transabdominal sonography revealed a double uterus and a heterogeneous myoma-mimicking mass over the left cervical region. The left kidney was absent. Magnetic resonance imaging revealed a double uterus, a double vagina with an unperforated left hemivagina, and ipsilateral renal agenesis. The patient underwent cervicovaginal orifice reconstruction surgery.ConclusionLeft hematocolpos compression, a partially obstructed right vaginal channel, and an orifice with local venous drainage abnormalities resulted in prolonged menstrual bleeding. In HWW syndrome, the occurrence of a pelvic mass and pain is common; however, prolonged menstrual bleeding is rare.     

Prenatal management of inherited urogenital malformation: case report

Documentation of unique kidney renal function early in pregnancy can be helpful in defining prenatal management and therefore in improving prognosis. Antenatal diagnosis of a solitary kidney was performed at 20 weeks' gestation in a foetus with a 1,7 chromosome translocation. Because of the decreasing renal function and the increasing pelvic dilatation, an early in utero stenting was placed at 23 weeks' gestation. Optimal outcome occurred and the baby was delivered at 32 weeks. Complete assessment of the malformation showed a left hydronephrosis due to a megaureter, right renal agenesis with ipsilateral cryprorchidism and agenesis of the right vas deferens. The chromosomic translocation was inherited from the mother who was affected by uterus didelphys, obstructed right hemivagina and right renal agenesis. Renal function of the unique kidney with hydronephrosis can be early diagnosed and promptly treated. This condition should also increase the index of suspicion of underlying genital and chromosomal anomalies.     

Diagnosis and gestational follow-up in a patient with Herlyn-Werner-Wünderlich syndrome,a case report

ObjectiveHerlyn-Werner-Wünderlich syndrome (HWW) is a rare congenital malformation of the urogenital tract due to a fusion failure in the Müllerian ducts. This anomaly consists of a didelphus uterus with obstructed hemivagina and sometimes associated with ipsilateral renal agenesis. The treatment of choice is surgical, it consists of a simple procedure of resection of the vaginal septum and drainage of the obstructed hemivagina and retained collections.Case reportWe report the case of a pregnancy in a 37-year-old woman with SHWW without resection of the vaginal septum.ConclusionsThe early detection is important due to the possible associated complications. Women with uterine defects are subject to an increased risk of complications in pregnancy and childbirth. Therefore, each case must be treated individually.     

MURCS association with encephalocele: report of a second case

We report a female fetus with occipital encephalocele, dysraphism of the cervical spine, right renal agenesis and Mullerian agenesis. Additional findings included posterior cleft palate, absent left umbilical artery and Meckel's diverticulum. This fetus had the features of MURCS association with occipital encephalocele. This is the second report of encephalocele with MURCS association.     

Expanding the phenotype of 22q11 deletion syndrome: the MURCS association

The MURCS association [Müllerian Duct aplasia or hypoplasia (M), unilateral renal agenesis (UR) and cervicothoracic somite dysplasia (CS)] manifests itself as Müllerian Duct aplasia or hypoplasia, unilateral renal agenesis and cervicothoracic somite dysplasia. We report on a 22-year-old woman with bicornuate uterus, right renal agenesis, C2-C3 vertebral fusion (MURCS association) and 22q11.2 deletion. Angio-MRI revealed the aberrant origin of arch arteries. Hashimoto thyroiditis, micropolycystic ovaries with a dermoid cyst in the right ovary and mild osteoporosis were also diagnosed. Accurate revision of radiographs enabled us also to identify thoracolumbar and lumbosacral vertebral-differentiation defects. Audiometry and echocardiogram were normal. Bone densitometry showed osteoporosis. As per our evaluation, the patient had short stature, obesity (BMI 30.7) and facial features suggestive of the 22q11 deletion syndrome. Multiplex ligation-dependent probe amplification analysis showed a de-novo 22q11.2 deletion confirmed by array-comparative genomic hybridization analysis. We discuss whether this is a casual association or whether it is an additional syndrome owing to the well known phenotype extensive variability of the 22q11 deletion syndrome.     

OHVIRA with a Twist: Obstructed Hemivagina Ipsilateral Renal Anomaly with Urogenital Sinus in 2 Patients

BackgroundOHVIRA syndrome is a rare diagnosis involving the triad of obstructed hemivagina, uterine anomaly, and ipsilateral renal anomaly. OHVIRA syndrome can be associated with other anomalies due to abnormal embryologic development of the urogenital system.CasesA 14-year-old female with known left renal agenesis, long-standing urinary incontinence, and history of recurrent urinary tract infections presented with abdominal distention.A 4-year-old female with known right renal agenesis and urinary incontinence was found to have a single common channel at the introitus that communicated with the bladder and a hemivagina on the left.Summary and ConclusionIt is important to identify the presence of a urogenital sinus in the OHVIRA setting, as surgical management for these patients may be affected. In both cases, the urogenital sinus was preserved as the vaginal opening.     

Unilateral Non-communicating Cervical Atresia in a Patient with Uterus Didelphys and Unilateral Renal Agenesis

A 16-year-old adolescent girl presented with chronic pelvic pain. Pelvic ultrasound and MRI showing a uterus didelphys, normal left uterus and cervix, right pelvic fluid collection and right unilateral renal agenesis. After two unsuccessful vaginal surgeries for drainage of hematotrachelos and creation of an outflow tract, patient underwent unilateral total abdominal hysterectomy with final pathology confirming hematotrachelos and non-communicating cervical atresia on the right. Patient on postoperative follow-up doing well.     

Hydronephrosis: A Rare Presentation of Uterine Didelphys with Obstructed Hemivagina and Ipsilateral Renal Anomaly

BackgroundObstructed hemivagina and ipsilateral renal anomaly syndrome is a Müllerian duct anomaly characterized by uterine didelphys, obstructed hemivagina, and ipsilateral renal anomalies.CaseA 12-year-old girl with a history of right renal agenesis presented to the emergency department with abdominal pain, dysuria, and urinary retention. Imaging identified a uterine didelphys with a large obstructed right hemivagina compressing the left ureter, causing hydronephrosis. She underwent vaginal septum resection for curative treatment.Summary and ConclusionIn female patients who present with abdominal pain and a history of renal abnormalities, obstructed hemivagina and ipsilateral renal anomaly syndrome must be considered in the differential diagnosis. This consideration is important in preventing complications such as hydronephrosis seen in this patient.     

Mayer-Rokitansky-Küster-Hauser syndrome associated with unilateral gonadal agenesis. A case report

BACKGROUND: Mayer-Rokitansky-Küster-Hauser syndrome is the second most frequent cause of primary amenorrhea, with a reported incidence of 0.002%. Patients have a normal karyo-type and usually normal ovaries. Associated ovarian abnormalities are rarely reported. CASE: A 17-year-old woman with primary amenorrhea was evaluated by diagnostic laparoscopy, which showed complete müllerian agenesis. On the left side, the uterine tube and round ligament were hypoplastic, and the ovary was absent. The karyotype was 46, XX. Intravenous urography revealed a right kidney below the normal site with malrotation abnormality. CONCLUSION: Müllerian duct agenesis coexisting with unilateral ovarian agenesis and a contralateral renal abnormality has not been widely described before. Unilaterality might play a role in the etiologic factor of Mayer-Rokitansky-Küster-Hauser syndrome.     

Endocrine evaluation in a patient with MURCS association and ovarian agenesis

A new case of Mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia (MURCS association) in a 16-yr-old female patient is reported. In addition, agenesis of the right ovary plus hypoplasia of the right craniofacial bones were also present. Dynamic tests of anterior pituitary reserve (LH-RH, TRH and hypoglycemia) showed normal responsiveness of this gland in terms of LH, FSH, TSH, prolactin and growth hormone secretion, whilst a subnormal plasma cortisol response to hypoglycemia and exogenous ACTH (in the presence of unilateral adrenal agenesis) was found. Functional integrity of the hypothalamic-pituitary-ovarian axis was also documented. The presence of two additional and previously unreported congenital anomalies in this patient with MURCS association underlines the wide spectrum of the syndrome.     

Hemivaginal Septum Resection in a Patient With a Rare Variant of Herlyn-Werner-Wunderlich Syndrome

Herlyn-Werner-Wunderlich syndrome is characterized by a triad of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. The syndrome should be suspected in any young woman with abdominal pain or cyclic dysmenorrhea, and radiologic evidence of müllerian duct and renal anomalies. Herein is presented the case of a 25-year-old woman with a rare variant of Herlyn-Werner-Wunderlich syndrome, characterized by an anomalous connection between the 2 endocervical canals, who underwent hemivaginal septum resection to relieve progressively worsening dysmenorrhea. The right hemivaginal septum was resected medially from the left cervix and laterally off the right vaginal wall. Hydrodissection between the hemivaginal septum and right cervix facilitated surgical resection. After resection of the hemivaginal septum there was complete resolution of dysmenorrhea and no recurrence of hematometra or hematocolpos.     

Anhydramnion im zweiten Trimenon

A 32-year-old woman pregnant with her second child in the 30th week of gestation presented with anhydramnios since the 27th week of gestation. Prenatal diagnostics presumed fetal renal agenesis of the right kidney and a hypoplastic-dysplastic left fetal kidney as well as lung hypoplasia. The neonatologists were able to confirm this diagnosis after birth, and the female newborn received prompt dialysis and artificial respiration.     

Bilateral renal agenesis in insulin-dependent maternal diabetes mellitus (IDDM)--a case report

We report a fetal bilateral renal agenesis in a woman suffering from insulin-dependent diabetes mellitus. Early diagnosis of this lethal congenital anomaly allows well-timed termination of pregnancy. Transvaginal sonography in combination with color flow mapping render possible an accurate diagnosis of bilateral renal agenesis. Sonographic and color flow mapping features of the above described malformation as well as invasive diagnostic possibilities and causes of renal agenesis in maternal IDDM are discussed.     

Arteria umbilical única aislada. Feto polimalformado. Cariotipo normal

We report a case of isolated single umbilical artery, diagnosed by ultrasound in the second trimester. The peculiarity of this case lies in ultrasound findings of left renal agenesis, hypospadias, and pyelectasis in the right kidney at week 29 of pregnancy. These diagnoses were confirmed at birth in addition to membranous ventricular septal defect, intrauterine growth restriction and normal karyotype.     

Gestational hypertension and preeclampsia associated with unilateral renal agenesis in women with uterine malformations

OBJECTIVE: To evaluate the possible connection between gestational hypertensive disorder and unilateral renal agenesis in women with congenital uterine anomalies. STUDY DESIGN: Thirty-three (16%) out of 206 women with uterine anomalies had unilateral renal agenesis. Nineteen of them had delivered and comprised the study group. The control group consisted of 44 women among the 206 with similar uterine malformations who had normal bilateral kidneys and matched in age and parity with the study group. Retrospective analysis considered the presence of gestational hypertension, proteinuria, preeclampsia, perinatal outcomes and manifestations of hypertension and renal disease during the follow-up period in both groups. The median follow-up was 166 months (range 24-372 months). RESULTS: Women with unicornuate uterus most frequently (25%) evinced unilateral renal agenesis. Eight (42%) out of 19 women with malformed uterus and unilateral renal agenesis had in at least one pregnancy gestational hypertension, preeclampsia or gestational proteinuria compared to 8 (18%) out of 44 women with two kidneys (relative risk, RR 2.33, 95% CI 1.02, 5.29). Seventeen (35%) out of all 49 pregnancies in the study group were complicated by gestational hypertensive disorder or proteinuria as against 10 (11%) out of 90 pregnancies in the control group (RR 3.12, 95% CI 1.55, 6.28). Perinatal outcomes were similar in both groups. During follow-up none had diagnosed proteinuria or chronic renal disease, but two out of 19 women (11%) with unilateral renal agenesis had commenced medication for chronic hypertension. CONCLUSION: Unilateral renal agenesis predisposes women with uterine anomalies to preeclampsia.     

Recurrent bilateral renal agenesis

Bilateral renal agenesis is usually a sporadic occurrence; recurrence in the same family is rare. A case of recurrent bilateral renal agenesis is presented.     

Unilateral tibial agenesia with preaxial polysyndactyly and renal disorder in two patients: a new syndrome?

Left tibial agenesis, polysyndactyly with talipes equinovarus deformity and Grade IV vesicoureteral reflux of the right kidney are described in a 40-day-old male and an unrelated 1-month-old male, is also reported with right tibial agenesis, polysyndactyly with talipes equinovarus deformity and right kidney agenesis and left Grade V vesicoureteral reflux. No other pathology was recorded. Follow up at 1 year and 3 years, respectively, revealed normal motor and mental development. As this combination has been unpublished before, we believe that this a new syndrome.     

Role of transvaginal sonography in the diagnosis of bilateral renal agenesis.

Bilateral renal agenesis with lethal pulmonary hypoplasia, characteristic facial abnormalities, and limb deformities is a relatively common congenital defect. However, it is rarely diagnosed antenatally because of the virtual absence of amniotic fluid. We report the use of transvaginal sonography in diagnosing two cases of bilateral renal agenesis antenatally.     

Lesión quística en la pelvis: un caso de útero doble con hemivagina ciega

We report a case of uterine duplicity with blind hemivagina, hematocolpos and ipsilateral renal agenesis that manifested in adulthood with a cystic lesion in the pelvis. Uterine duplicity is a mesonephric or Wolffian anomaly inducing alterations in the fusion and resorption of the Müllerian duct during embryonic development, resulting in the presence of blind hemivagina and ipsilateral renal agenesis.     

Successful Pregnancy Following Surgery in the Obstructed Uterus in a Uterus Didelphys with Unilateral Distal Vaginal Agenesis and Ipsilateral Renal Agenesis: Case Report and Literature Review

SynopsisAfter surgical correction of unilateral distal vaginal agenesis, the obstructed didelphic uterus was able to harbor 2 subsequent pregnancies.BackgroundThere was a congenital anomaly syndrome of uterus didelphys, unilateral distal vaginal aplasia, and ipsilateral renal aplasia. Intuition suggests that later pregnancy would be in the unobstructed uterus.ObjectiveThe purpose is to report pregnancy occurring twice in a previously obstructed didelphic uterus after surgical correction.CaseA girl aged 13 years, 8 months presented with the syndrome of didelphic uterus, upper right hematocolpos, and right renal aplasia. Right vaginal marsupialization was done. Subsequently, she had 2 pregnancies in the right didelphic uterus.ConclusionPregnancy occurred in the obstructed uterus despite a large hematometra, extensive right pelvic peritoneal endometriosis, and hematocolpos. The surgeon should make every effort to preserve the obstructed uterus.