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.     

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.     

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.     

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.     

The BOR syndrome and renal agenesis--prenatal diagnosis and further clinical delineation

This is the first report of prenatal diagnosis of a fetus with brachio-oto-renal dysplasia (BOR) syndrome with right-sided renal agenesis and severe left hypoplasia. The father of this fetus had malformed external ears, a left-sided preauricular pit and branchial cyst, and bilateral mild to moderate deafness without a demonstrable renal anomaly. This family highlights the variable expressivity seen in the autosomal dominant BOR syndrome, the importance of genetic counselling for families with BOR syndrome, and the aetiologic heterogeneity of renal agenesis.     

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.     

Mosaic trisomy 11 in a fetus with bilateral renal agenesis: co-incidence or new association?

We report a fetus with mosaic trisomy 11 who also had bilateral renal agenesis. We describe the post-mortem examination findings in the fetus and cytogenetic analysis. There are no earlier reports of full trisomy 11, presumably because it is lethal and results in early spontaneous miscarriages. There is only one report published earlier in a fetus with mosaic trisomy 11. There have been a few case reports of trisomy 11 identified in pre-natal samples, where it was associated with normal outcome. Bilateral renal agenesis has not been reported earlier in association with mosaic nor non-mosaic trisomy 11. We describe this rare cytogenetic finding in a fetus with bilateral renal agenesis. We also discuss the issues around genetic counselling when this is encountered in clinical practice.     

Accuracy of prenatal diagnosis of renal agenesis with color flow imaging in severe second-trimester oligohydramnios

OBJECTIVE: Our purpose was to examine the potential of color flow imaging to assess the presence of renal arteries in second-trimester pregnancies complicated by severe oligohydramnios.STUDY DESIGN: Thirty-three consecutive second-trimester pregnancies referred with severe oligohydramnios were prospectively studied with high-resolution color Doppler ultrasonography to establish the presence or absence of renal arteries. Prenatal findings were correlated with the presence or absence of fetal kidneys at postmortem or postnatal examination.RESULTS: Neither renal artery was visualized in eight fetuses; postmortem examination confirmed bilateral renal agenesis in seven and unilateral renal agenesis with a contralateral atrophic multicystic kidney in the other. Only one renal artery was seen in three; postmortem examination demonstrated unilateral renal agenesis in two fetuses and bilateral multicystic dysplastic kidneys in the other. Postmortem or postnatal evaluation confirmed the presence of both kidneys in all 22 fetuses in which both renal arteries were identified prenatally.CONCLUSIONS: Color Doppler ultrasonography is useful in the prenatal evaluation of fetuses with severe second-trimester oligohydramnios to demonstrate the presence or absence of renal arteries. This technique should be added to the armamentarium of prenatal tests to evaluate second-trimester fetuses with severe oligohydramnios.     

Síndrome de Herlyn-Werner-Wunderlich

Uterus didelphys with obstructed hemivagina frequently associated with ipsilateral renal agenesis is a rare congenital anomaly known as Herlyn-Werner-Wunderlich syndrome (HWW). We report the case of a 31-year-old woman with no relevant medical history, with scant, intermittent and ill-smelling metrorrhagia for the last 2-3 months. Intraoperative vaginal exploration revealed a hypotrophic cervix and the external orifice of a fistula communicating with the right uterine cavity and draining a dark hematic fluid. Intravenous urography showed right renal agenesis and confirmed the suspected diagnosis of HWW.     

Magnetic resonance imaging in the evaluation of uterus didelphys with obstructed hemivagina and renal agenesis: a case report

Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis usually presents after menarche with progressive abdominal pain during menses secondary to hematocolpos. Initially, the anomaly remains unrecognized, while patients most frequently referred to surgeons for assistance. The method of choice for diagnosis is magnetic resonance imaging. A greater awareness of the syndrome of uterus didelphys, obstructed hemivagina and ipsilateral renal agenesis should lead to its prompt diagnosis, allowing for early and appropriate surgical treatment as well as decreased long-term morbidity. Transvaginal excision of the septum is the appropriate mode of treatment.     

Unilateral renal agenesis associated with ipsilateral blind vagina

All cases of unilateral renal agenesis are associated with an ipsilateral blind vagina except when there is agenesis of a urogenital ridge. Herlyn-Werner syndrome and some G?rtner's duct cysts or Wolffian remnants also represent a blind vagina and lend support to the idea that the caudal segments of the Wolffian ducts participate in the formation of the human vagina.     

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.     

Prenatal diagnosis of del(15)(q26.1) and del(18)(q21.3) due to an unbalanced de novo translocation: ultrasound, molecular cytogenetic and autopsy findings

A case of partial deletion of the distal parts of chromosomes 15 and 18 [(15)(q26.1)(18)(q21.3)] due to a de novo translocation is reported. Cordocentesis and fetal karyotyping was done because of severe oligohydramnios and bilateral absence of kidneys. Renal defects are a frequent finding in fetuses with different chromosomal anomalies; this particular chromosomal rearrangement however has not been reported yet in a fetus with bilateral renal agenesis. FISH was performed for detailed clarification of the chromosomal anomaly. Prenatal karyotyping appears to be important in fetuses with renal agenesis.     

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.     

Pregnancies in women with uterine malformation, treated obstruction of hemivagina and ipsilateral renal agenesis

Purpose

The aim of this study was to evaluate the outcome of pregnancies in women who had uterine malformation and surgically treated obstructed hemivagina with ipsilateral renal agenesis.

Methods

The study group comprised 21 women with malformed uterus (12 didelphic, 6 septate and 3 bicornuate uterus). All of them had a history of surgical excision of the longitudinal vaginal septum caused obstructed hemivagina and ipsilateral renal agenesis. All pregnancies and possible surgical interventions were evaluated during the follow-up period (median 13.2 years).

Results

Thirteen out of 21 women attempting pregnancy conceived. They produced 22 pregnancies, 17 (77 %) were contralateral to the treated obstructed hemivagina and unilateral renal agenesis. The median interval between surgical treatment of obstructed hemivagina and the first pregnancy was 10.5 years. Twenty (91 %) pregnancies ended in delivery of a living infant. Preeclampsia (14 %), preterm delivery (36 %), high frequency (38 %) of fetal breech presentation and the cesarean section rate (67 %) were found.

Conclusions

Accurate diagnosis and appropriate surgery to open an obstructed hemivagina in adolescence assure fertility. Preterm birth is associated with malformed uterus and unilateral renal agenesis may predispose to preeclampsia.     

ACOG Committee Opinion. Number 274, July 2002. Nonsurgical diagnosis and management of vaginal agenesis

Vaginal agenesis occurs once in every 4,000-10,000 females. The most common cause of vaginal agenesis is congenital absence of the uterus and vagina, which is also referred to as müllerian aplasia, müllerian agenesis, or Mayer-Rokitansky-Küster-Hauser syndrome. The condition usually can be managed nonsurgically with the use of successive dilators if it is correctly diagnosed and the patient is sufficiently motivated. Besides correct diagnosis, effective management also includes evaluation for associated congenital, renal, or other anomalies and careful psychologic preparation of the patient before any treatment or intervention. If surgery is preferred, a number of approaches are available; the most common is the Abbe-McIndoe operation.     

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.     

Bilateral renal agenesis (Potter's syndrome) in two consecutive infants.

Bilateral renal agenesis is a relatively rare congenital anomaly; its frequency is 1 : 3000-4000 deliveries, with a remarkable predominance of male infants. This anomaly is most often found in combination with characteristic facial features ('Potter's face') and pulmonary hypoplasia, the combination being known as Potter's syndrome. In the course of pregnancy an increasing oligohydramnios becomes manifest; during labor, virtual absence of amniotic fluid is found in most cases. This oligohydramnios should alert the obstetrician to suspect Potter's syndrome; serial ultrasonography may confirm the diagnosis. Most affected children are born alive but die within a few hours due to respiratory difficulties caused by the pulmonary hypoplasia. Despite the remarkable facial characteristics of these infants, it was only in a small minority that the diagnosis was considered before autopsy. This stresses the need for a full post-mortem examination in all cases of perinatal death. The etiology is still uncertain, though multifactorial inheritance is the most likely. As a consequence, the recurrence risk is not negligible; the small number of 'familial occurrence' observations, however, does not allow estimation of a risk figure. Genetic counseling is indicated in any family giving birth to a child with bilateral renal agenesis. A family is described in which two consecutive male infants with bilateral renal agenesis were born alive and survived 19 and 38 h.     

女性生殖道畸形患者发生泌尿系统畸形的临床特点分析

目的 探讨生殖道畸形患者发生泌尿系统畸形的临床特点、诊断和治疗。方法对我院近4年来收治的生殖道畸形患者的临床资料进行回顾性分析。结果289例生殖道畸形患者,年龄在13—47岁,平均年龄(23.4±2.8)岁。根据生殖道畸形发生的情况分为对称性畸形及不对称性畸形两类。其中对称性生殖道畸形213例,包括子宫完全或不完全纵隔135例,处女膜或阴道闭锁20例,先天性无子宫无阴道58例。对称性生殖道畸形中只有1例合并同侧肾脏缺如,发生率为0.50％(1/213),占总生殖道畸形的0.35％(1/289)。不对称性生殖道畸形76例,包括阴道斜隔综合征59例,其中伴同侧肾脏缺如43例,盆腔异位单肾畸形2例,双侧马蹄肾1例,左侧马蹄肾伴右侧肾代偿性增大1例,双侧各有1对肾盂、肾盏,输尿管中下段合并1例;残角子宫13例及单角子宫4例,均合并同侧肾脏缺如。不对称性生殖道畸形合并泌尿系统畸形发生率为85.53％(65/76),占总生殖道畸形的22.49％(65/289)。结论生殖道畸形尤其是不对称性生殖道畸形合并肾脏畸形并非少见,但其临床表现也各有差异。患者就诊时已为成人期,且多以生殖系统异常症状就诊,因此及早发现生殖系统畸形有重要的临床意义。     

Coexistent renal, müllerian and alimentary tract developmental defects. A case report

Unilateral renal agenesis has been found independently in relation to müllerian tract and alimentary tract abnormalities. We treated a woman for coexistent developmental defects in the renal, müllerian and alimentary tracts.