Malformations In Females Research Articles

Rene singolo congenito

In recent years, several studies have been published on the prognosis of children with congenital solitary kidney (CSK), but a worldwide consensus on management and follow-up is still lacking. Recently, the Italian Society of Pediatric Nephrology has published a consensus statement with recommendations for the diagnosis and management of the CSK. This article presents a compendium of the recommendations, including diagnostic approach, nutritional and lifestyle habits - with special attention to sports participation - and follow-up. Any antenatal suspicion/diagnosis of CSK should be confirmed by neonatal ultrasound (US), however the routine use of further imaging is not recommended. A normal CSK is expected to undergo compensatory enlargement, which should be assessed by US. In infants and children that show compensatory enlargement of the CSK at diagnosis, urinalysis is recommended but blood tests or genetic analysis are not. Extra-renal malformations should be searched for, in particular genital tract malformations in females. Protein and salt intake should not be restricted, but excess should be avoided. Sport participation should not be limited. A lifelong follow-up is recommended, tailored on risk stratification as follows: low risk - CSK with compensatory enlargement -, - medium risk - CSK without compensatory enlargement and/or additional malformations of the kidney or urinary tract - and high risk - decreased glomerular filtration rate and/or proteinuria, and/or hypertension -.

Delayed vs. early enteral feeding after repair of congenital recto-vestibular fistula: The effect on perineal wound healing.

congenital Recto vestibular fistula represents the commonest type of anorectal malformation in females. The treatment of this anomaly is mainly approached either through anterior or posterior sagittal ano-rectoplasty approach. Several perioperative factors may affect the outcome. One of major postoperative complications is the occurrence of wound infection. We aimed to study the effect of delayed vs. early enteral feeding on the occurrence of perineal wound infection (PWI) after repair of congenital recto vestibular fistula. Fifty-five infants with recto-vestibular fistula were included. They were managed by single stage anterior sagittal anorectoplasty (ASARP) at an age ≥3 months. Groups A and B included infants who started oral intake on the 6th and 2nd postoperative days respectively. Group A infants were kept on peripheral parenteral nutrition (PPN) during the fasting period. Superficial wound infection occurred in three cases in group A while it developed in seven cases in group B. Deep perineal infection occurred in two and five cases in group A and group B respectively. The mean hospital stay was 8 days in group A vs. 13 days in group B when PWI developed. Delayed enteral feeding with PPN keeps the perineal wound less contaminated with stool. This promoted proper and fast healing with lower incidence of PWI. Also, PPN compensates the catabolic effects of both surgical trauma and fasting during the postoperative period and ensures maintenance of normal levels of essential nutrients that allow for proper healing.

Comparative study between one-stage versus three-stage repair of anorectal malformation with recto-vestibular fistula

BackgroundThis is a retrospective comparative study that aimed to compare the short-term and intermediate-term outcomes of the one-stage and three-stage repair in the treatment of female neonates with a recto-vestibular fistula. Female patients who were presented with recto-vestibular fistula between 2017 and 2020 have been included in the study, and they were divided into two groups. Group A is the group of patients that underwent one-stage repair, and Group B is the group of patients that underwent three-stage repair. Short- and intermediate-term outcomes were recorded in both groups and the results were compared.ResultsThirty-six female infants with recto-vestibular fistula were included in our study divided into two groups. Group A included 20 cases for whom we performed one-stage posterior sagittal anorectoplasty, and Group B also included 16 cases for whom the three-stage repair was done. The results showed that the three-stage repair had lower hospital stay (8 days) than the one-stage repair (15 days), and the three-stage repair has lower rates of wound infection, wound dehiscence, and recurrence than the one-stage repair.ConclusionThe three-stage repair of anorectal malformations in females with recto-vestibular fistula is a safer technique, has lower rates of complications, and achieves comparable functional results to the one-stage repair.

The Outcome of Single Stage versus Two Stage Repair in Anorectal Malformations with Recto-Vestibular Fistula

Background: Imperforate anus with recto-vestibular fistula is one of the most common anorectal malformations in females. Wound infection and disruption after recto-vestibular fistula repair may affect the fecal continence and functional outcome. Fecal incontinence may cause long term social, economical and psychological problems in children. Although a protective colostomy reduces the infectious complications and dehiscence, it is also associated with many problems. Aim: To compare the safety, feasibility, post operative complications and functional outcomes of limited posterior sagittal anorectoplasty with or without colostomy. Study design: Prospective descriptive study. Place and duration of sudy: Department of Pediatric Surgery, Sahiwal Teaching Hospital Sahiwal, from 1st January 2019 to 31st December 2021. Methodology: Forty-one patients with congenital recto-vestibular fistula were managed by two techniques. Patients were divided into two groups. Group A (19 patients): were operated by single stage limited posterior sagittal anorectoplasty without covering colostomy. Group B (22 patients): were operated by two stage technique. Limited posterior sagittal anorectoplasty and covering colostomy in first stage and stoma closure was done in second stage. The patients in both groups were evaluated for hospital stay, operation time, postoperative complications, fecal continence, constipation, bowel function. Results: The age of patients ranged from 11-56 months (mean 26.93 months) in Group A and 9-60 months (mean 27.03 months) in Group B. The total length of hospital stay in Group A ranged from 7-11 days (mean 9.20 days); however, in Group B, it ranged from 4-6 days (mean 5.01 days) for first stage procedure and 8-11 days (mean 9.27 days) for second stage colostomy closure procedure. In Group A, complications were, wound infection 03 (15.78%), anal stenosis 02 (10.52%), mucosal prolapse 01 (5.26%), constipation 04 (21.05%), soiling 04 (21.05%), perineal excoriation 03 (15.78%) and recurrent H-type recto-vestibular fistula 01 (5.26%). In Group B, during the first stage of repair, one patient (4.54%) developed wound infection. Mucosal prolapse was observed in one patient (4.54%). Constipation was reported in 03 (13.63%) and soiling in 01 (4.54%). Peri stoma skin excoriation was seen in five patients (22.72%). Stomal prolapse was observed in two patients (9.09%). Two patients (9.09%) developed wound infection after colostomy closure. Conclusion: Single stage repair of congenital recto-vestibular fistula increases the risk of postoperative complications. Two stage approach is associated with less postoperative complications. However it is associated with lengthy hospital stay, long operation time and complications related to stoma formation and closure. Keywords: Recto-vestibular fistula, Limited posterior sagittal anorectoplasty, Single stage technique, Two stage technique.

Understanding H-type anorectal malformation in females for a suitable surgical approach – A single center experience from central India

Background: H-type anorectovestibular fistula is a rare anorectal malformation (ARM) in females where the child passes stool through a vestibular opening in addition to the normal anus. The diagnosis is easy and largely clinical but controversies exist regarding the most suitable surgical approach and technique to minimize complications. Objectives: This study aims to discuss the different possible presentations of the anomaly and the most suitable surgical approach to it. Materials and Methods: We analyzed a total of ten patients with this condition treated over a period of 3 years from January 2017 to December 2019. All underwent definitive surgery by the anterior perineal approach without any protective colostomy. They were analyzed with respect to age, presentation, coanomalies, fistula location, internal opening to anus distance, wound related complications or recurrence, need for colostomy later, and presence of constipation over 8 months of follow-up. Results: Incidence was 8.77% (10/114) of all ARMs in females. Mean age at presentation was 47.1 days and 3 (30%) had coanomalies. Vestibular staining was the most common manifestation. Mean internal opening to anus distance was 2.04 cm. Two (20%) had wound breakdown postoperatively and one (10%) had recurrence in long-term follow-up. These patients underwent colostomy. Two had constipation but all allowed adequate dilatation during mean follow-up of 8 months. Conclusion: H-type ARM in females can be suitably managed with the anterior approach. However, a proximal colostomy appears to significantly decrease the complication rate of the definitive surgery.

Impact of Spinal Defects on Urinary and Sexual Outcome in Adults With Anorectal Malformations—A Cross-sectional Study

To examine the impact of spinal defects on urinary function, sexual outcome and quality of life in adult patients born with anorectal malformations. A prospective cohort study at Odense University Hospital in Denmark was conducted. From 1985 to 2000, 93 patients were found eligible for participation. Twenty-seven (29%) consented to participate. One patient refrained from clinical examinations. Patients were examined with magnetic resonance imaging, uroflowmetry, and validated questionnaires on urinary function, sexual function, and quality of life. There were 14 were females and 13 were males, median age of 25 (range 19-31) years and 23 (18-32) years, respectively. The type of anorectal malformations in females were vestibular fistula (n=6), anocutaneous fistula (n=4), anal stenosis (n=3), and cloaca (n=1). In males the type of malformations were anocutaneous fistula (n=4), bulbar fistula (n=4), rectovesical fistula (n=2), anal stenosis (n=1), rectal atresia (n=1), and anal atresia with no fistula (n=1). Patients with spinal defects had a lower average voiding rate compared to patients with normal spinal anatomy (P .03), a lower voiding-related quality of life (P .02), and a tendency was observed toward a worse total urinary incontinence-related quality of life score (P .06). Moreover in patients with spinal defect a tendency was seen toward a worse general quality of life (P .09). Spinal defects detected by magnetic resonance imaging in adults with anorectal malformations were found to be associated with urinary voiding function.

Experiences of Rectovaginal Fistula in Anorectal Malformation

BackgroundRectovaginal fistulas (RVFs) are very rare malformations in females with anorectal malformations (ARMs). Here, we share the clinical features of RVF and report the long-term outcomes. MethodsRVF patients were classified using a retrospective analysis of ARM patients who underwent operations at Seoul National University Hospital between January 1999 and May 2017. The Krickenbeck continence scoring system was used to evaluate bowel function 5 and 10 years after surgery. ResultsOf the total 460 ARM patients, 203 were female, 7 of whom were diagnosed with RVF. The median age and weight at the time of anorectoplasty were 292 days (range, 140–617) and 8.2 kg (range, 5.5–12), respectively. Six patients had associated anomalies and three patients underwent redo-anorectoplasty. Voluntary bowel movements were observed in 6 out of 7 patients at 5 and 10 years of age. Soiling was observed in all patients at the age of five years and in 6 out of 7 patients at the age of ten years. Constipation was observed in 6 out of 7 patients at both five and ten years of age. ConclusionsAn RVF is a very rare malformation, accounting for 1.5% of total ARMs and 3.4% of ARMs in females. Long-term counseling, education, and guidance are needed for effective management of patients' bowel movements. Type of studyPrognosis study Level of evidenceLevel IV

One-stage repair of anorectal malformations in females with vestibular fistula: a systematic review and meta-analysis.

Females with recto-vestibular fistula (RVF) can be managed either by one-stage sagittal anorectoplasty (SARP) or by conventional multi-stage approach with colostomy followed by SARP. Our aim was to define which approach, one-stage or multi-stage, is safer and more beneficial. Using a defined search strategy, two investigators identified all comparative studies on the mentioned procedures. The study was conducted under PRISMA guidelines. The meta-analysis was performed using RevMan 5.3. Data are mean ± SD. Of 649 titles/abstracts screened, 13 full-text articles were analyzed. Three studies were included (156 females). One-stage SARP was associated with increased risk of wound infection (24.3 ± 8.7%) compared to multi-stage approach (10.9 ± 2.5%; p < 0.01) and increased risk of wound dehiscence (16.2 ± 4.8% vs. 2.4 ± 1.1%, respectively; p < 0.01). The incidence of anorectal stenosis was higher following one-stage repair (33.3%) vs. multi-stage approach (10.7%; p < 0.05). No differences were found with regards to redo SARP in both groups (12.9 ± 7.3% vs. 4.8 ± 0.8%; p = ns). At follow-up, the prevalence of soiling and constipation were similar after one-stage (19.7 ± 10.3% and 29.5 ± 5.4%) and multi-stage repair (13.7 ± 8.9% and 28.7 ± 4.4%; p = ns). In females with RVF, the SARP performed without protective colostomy increases the risk of postoperative complications. However, this one-stage approach seems not to be associated with reduced fecal continence.

Investigation of the feasibility and safety of single-stage anorectoplasty in neonates with anovestibular fistula.

Anovestibular fistula (AVF) is the most common type of anorectal malformation in females. Delayed anorectoplasty with fistula dilatation is commonly performed during infancy; however, we have been actively performing anorectoplasty in neonates. We report the surgical complications and postoperative defecation function associated with single-stage anorectoplasty performed in neonates. Patients who underwent surgery for AVF between 2007 and 2017 at two institutions were retrospectively studied. The operation time, amount of bleeding, time to start oral intake, perioperative complications, and Kelly's score were compared among patients who underwent surgery as neonates and those who underwent surgery as infants. Eighteen neonates and 17 infants underwent anterior sagittal anorectoplasty. The median operation time and time to start oral intake were significantly shorter in the neonatal group (72min; 3days, respectively) than in the infant group (110min, p = 0.0002; 5days, p = 0.0024, respectively). Postoperative wound disruption was significantly more frequent in the infant group. Of the ten patients each in the neonatal and infant groups, there was no significant difference in Kelly's score at age ≥ 4years. Single-stage anorectoplasty in neonates with AVF can be feasibly performed and does not impair postoperative defecation function. III.

Primary Definitive Procedure versus Conventional Three-staged Procedure for the Management of Low-type Anorectal Malformation in Females: A Randomized Controlled Trial.

Introduction:Females with Krickenbeck low-type anorectal malformations - vestibular fistula (VF) and perineal fistula (PF) - are managed either by a primary definitive or conventional three-staged approach. Ultimate outcome in these children may be affected by wound dehiscence leading to healing by fibrosis. Most of the literature favors one approach over other based on retrospective analysis of their outcomes. Whether a statistically significant difference in wound dehiscence rates between these approaches exists needed to be seen.Materials and Methods:A randomized controlled trial for girls <14 years with VF or PF was done. Random tables were used to randomize 33 children to Group I (primary procedure) and 31 to Group II (three-staged procedure). Statistical analysis was done for significance of difference (P < 0.05) in the primary outcome (wound dehiscence) and secondary outcomes (immediate and early postoperative complications).Results:Of the 64 children randomized, 54 (84%) had VF. Both groups were comparable in demography, clinical profile and age at surgery. The incidence of wound dehiscence (39.4% vs. 18.2%; P = 0.04), immediate postoperative complications (51.5% vs. 12.9%; P = 0.001), and early postoperative complications (42.4% vs. 12.9%; P = 0.01) was significantly higher in Group I as compared to Group II. Six of 13 children (46.2%) with dehiscence in Group I required a diverting colostomy to be made.Conclusions:Females with VF or PF undergoing primary definitive procedure have a significantly higher incidence of wound dehiscence (P = 0.04), immediate (P = 0.001) and early postoperative complications (P = 0.01).

One or Two Stages Procedure for Repair of Rectovestibular Fistula: Which is Safer? (A Single Institution Experience).

Background:Rectovestibular fistula (RVF) is the most common type of anorectal malformations in females. The need for a diverting colostomy during correction of defect has ignited a heated debate. In this study, we reviewed the girls with RVF that had been treated by either one or two stage procedure in the past 10 years in our institution to define whether one stage or two stage procedures is safer and more beneficial for the patients.Materials and Methods:Seventy girls with RVF that had been operated from January 2005 to January 2015 were studied retrospectively. Data were obtained from medical hospital records. The cases were divided into two groups. Group A (46 patients): were operated by two stages technique (simultaneous sigmoid colostomy and anterior sagittal anorectoplasty [ASARP]). Group B (24 patients): were operated by one stage (ASARP without covering colostomy). The short-term outcome as regard wound infection, wound dehiscence, anal stenosis, anal retraction, recurrence of fistula as well as complications of colostomy was reported. The long-term outcome as regard soiling, constipation and voluntary bowel movement was evaluated.Results:The age of patients at the time of surgery ranged from 3 months to 2 years (mean; 9.5 months). In Group A, seven patients (15.2%) developed wound infection, two patients developed wound disruption. One patient developed anterior anal retraction and required redo-operation, anal stenosis was noticed in five (10.9%) patients. Complications from colostomy had occurred in nine patients (19.5%). In Group B, wound infection occurred in ten patients (41.7%). Seven patients (29.2%) developed wound disruption. Anal stenosis occurred in eight patients (33.3%). Five patients required redo-operation because of anal retraction in three patients and recurrence of fistula in the other two patients. Constipation recorded in 15 patients (32.6%) of Group A and in ten patients (41.3%) of Group B. Soiling was reported in six girls (13.04%) of Group A and five girls (20.8%) of Group B.Conclusion:The avoidance of colostomy is not outweighed achieving sound operation and continent child. Two stages correction of RVF is safer and more beneficial than one stage procedure, especially in our locality and for our paediatric surgeons during their learning curve.

Cloacal malformation patients report similar quality of life as female patients with less complex anorectal malformations

PurposeCloacal malformations are the most complex type of anorectal malformation in females. This study aimed to report quality of life (QoL) of patients with a cloacal malformation for the first time in literature. Materials and MethodsFemale patients with an anorectal malformation participating in a follow-up program for congenital malformation survivors aged 5 or older were eligible for this study. QoL was assessed with the PedsQL™ 4.0 inventory. Scores of patients with a cloacal malformation (CM) were compared with those of female patients with rectoperineal or rectovestibular fistulas (RP/RV) and with reference data. ResultsA total of 59 patients (67% response rate; 13 patients with cloacal malformation) were included, QoL was assessed by patient self-report at median age of 12years (8–13), and by parent proxy-report at median age of 8years (5–12). There were no differences between groups regarding the presence of associated anomalies, with also no differences regarding anomalies in the urinary tract (CM vs. RP/RV=31% vs. 15%, p=0.237). Scores of the cloacal malformations group were similar to those of the comparison group, except the proxy-reported scores on school functioning (60.0 vs. 80.0, p=0.003). Proxy-reported scores of cloacal malformation patients were significantly lower than reference values on total QoL-score, psychosocial health, and emotional and school performance. Patients (irrespective of type of ARM) who suffered from fecal soiling reported significantly lower scores with regard to psychosocial health (71.7 vs. 81.7, p=0.034) and its subscale school performance (65.0 vs. 80.0, p<0.001). QoL-scores reported by cloacal malformation patients did not differ significantly from the reference values of the healthy population. Parents of cloacal malformation patients reported significantly lower total QoL, emotional and school performances, as well as a lower general psychosocial health for their children relative to reference data of healthy children. ConclusionPatients with cloacal malformations and females with less complex anorectal malformations report similar QoL. Parents of cloacal malformation patients report more problems on several psychosocial domains relative to the healthy reference group. To monitor these matters, long-term follow-up protocols should contain multidisciplinary treatment including periodical assessment of psychosocial well-being.

Treatment of Adults with Unrecognized or Inadequately Repaired Anorectal Malformations: 17 Cases of Rectovestibular and Rectoperineal Fistulas

Study ObjectiveTo analyze all cases of congenital rectovestibular and rectoperineal fistulas diagnosed and treated later in life, and to describe presenting complaints, treatment, and outcome. DesignRetrospective cohort study. SettingPediatric surgery departments of 3 major referral centers in the US and Europe. ParticipantsSeventeen women with untreated or inadequately treated rectovestibular or rectoperineal fistulas. InterventionsAnalyses of all eligible patients: charts were analyzed for the classification of the malformation, main complaints, continence, sexual function, indications for surgery, associated anomalies, surgical procedure, complications, and outcome. Main Outcome MeasuresPatients' complaints, continence, constipation, and sexual function. ResultsMajor complaints at time of diagnosis were fecal incontinence, and concerns for hygiene and cosmesis. All patients were repaired by a posterior sagittal approach. In all but 1 patient the complaints disappeared or improved after surgery. ConclusionsAnorectal malformations in females are congenital malformations mostly seen and treated in early childhood. If unrepaired or inadequately repaired the patient, when reaching adulthood, can suffer from significant morbidity. Surgical treatment is similar as in childhood and has an excellent clinical outcome.

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

Abnormalities in WNT signaling are implicated in a broad range of developmental anomalies and also in tumorigenesis. Here we demonstrate that germline mutations in WTX (FAM123B), a gene that encodes a repressor of canonical WNT signaling, cause an X-linked sclerosing bone dysplasia, osteopathia striata congenita with cranial sclerosis (OSCS; MIM300373). This condition is typically characterized by increased bone density and craniofacial malformations in females and lethality in males. The mouse homolog of WTX is expressed in the fetal skeleton, and alternative splicing implicates plasma membrane localization of WTX as a factor associated with survival in males with OSCS. WTX has also been shown to be somatically inactivated in 11-29% of cases of Wilms tumor. Despite being germline for such mutations, individuals with OSCS are not predisposed to tumor development. The observed phenotypic discordance dependent upon whether a mutation is germline or occurs somatically suggests the existence of temporal or spatial constraints on the action of WTX during tumorigenesis.

Selective activation of estrogen receptor alpha in Japanese quail embryos affects reproductive organ differentiation but not the male sexual behavior or the parvocellular vasotocin system

Estradiol is crucial for normal female differentiation in birds. Developmental effects of estrogen are believed to be mediated by slow genomic actions through the nuclear estrogen receptors alpha (ERα) and/or beta (ERβ). Consequently, exogenous compounds that interfere with the ERs may disrupt sexual differentiation of the reproductive organs and of the brain areas controlling sexual behaviors. The present study was conducted to elucidate the role of ERα in xenoestrogen-induced disruption of sexual differentiation in the Japanese quail ( Coturnix japonica). Embryonic treatment with the synthetic estrogen, ethinylestradiol (EE 2), and with the ERα-selective agonist, propyl pyrazole triol (PPT), induced oviductal malformations in females and retention of oviducts in males. Both EE 2 and PPT caused weight asymmetry between left and right testes and reduced the cloacal gland area in males. EE 2 significantly reduced the copulatory behavior in males whereas PPT had no effect on this behavior. The sexually dimorphic parvocellular vasotocin-immunoreactive (VT-ir) system in the medial preoptic nucleus (POM), the lateral septum (SL) and the medial part of the nucleus of the stria terminalis (BSTm), was not affected by EE 2 or PPT. Our results suggest that xenoestrogen-induced effects on reproductive organ differentiation are mediated by ERα, whereas demasculinization of male copulatory behavior and the VT-ir system appears not to be induced by activation of ERα alone.

Anorectal malformations in females—facts for the gynaecologist

Anorectal malformations in females are characterized by an abnormal position of the anal orifice, anterior to the normal site. In such children, there is a close association between the anorectum and the genitourinary systems, with possible gynaecologic and obstetric implications. The malformations include a spectrum of defects, ranging from the least severe, where the anus opens on the perineum, to the most severe—the common cloaca. Here the urinary, genital and alimentary systems open into a common orifice. There is a high incidence of genital and urinary anomalies associated with the cloaca. At times, the vagina may have to be reconstructed. The surgery of anorectal anomalies is usually done through the posterior sagittal approach. This approach allows for good visualization and access to the anorectal and genital region. Frequently, it is possible to observe, but not correct the associated genital anomalies, which are usually asymptomatic in childhood. However, on attaining menarche, such anomalies may be manifest. Also, these anomalies may be of significance at the time of conception and childbirth.

The value of mechanistic studies in laboratory animals for the prediction of reproductive effects in wildlife: Endocrine effects on mammalian sexual differentiation

AbstractWildlife populations from contaminated ecosystems display a variety of reproductive alterations, including cryptorchidism in the Florida panther, small baculum in young male otters, small penises in alligators, sex reversal in fish, and altered social behavior in birds. The formation of biologically plausible hypotheses regarding disruption of reproduction in wildlife can be facilitated by mechanistic studies on laboratory animals. To this end, we are investigating the in vivo and in vitro effects of endocrine‐disrupting toxicants in rodents. In vitro studies have used receptor binding and transfected cell assays to confirm the suspected mechanism of action, whereas in vivo rodent studies examine altered sexual differentiation. Antiandrogenic pesticides compete with the natural ligands for both rat and human androgen receptors, block androgen‐induced gene expression in vitro and in vivo, delay puberty, reduce sex accessory gland size, and alter male rat sex differentiation. In contrast, xenoestrogens affect female central nervous system sex differentiation and fecundity without producing malformations or infertility in male offspring. Prenatal administration of 2,3,7,8‐tetrachlorodibenzo‐p‐dioxin (TCDD) or the TCDD‐like polychlorinated biphenyls produce yet another profile of effects in the offspring, reducing numbers of ejaculated sperm in male progeny and inducing urogenital malformations in females. Although phthalates are reported to be estrogenic in vitro, in vivo exposure causes developmental alterations that more closely resemble antiandrogenic activity. The mammalian data indicate that exposure to endocrine‐disrupting chemicals produces effects that are pathognomonic for mechanisms by which they act. Mechanistic information derived from mammalian studies can enhance our ability to predict toxicant effects on reproduction in fish and wildlife.

Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome.

The aim of the study was to establish the prevalence of cardiovascular malformations in females with Turner's syndrome and analyse possible associations with the various karyotypes. One hundred and seventy nine of 393 females who had Turner's syndrome diagnosed in Denmark were examined. Complete chromosome analysis was available in all cases. Clinical examination, electrocardiography, and echocardiography including Doppler were performed. The distribution of the various karyotypes was 45,X, 58%; mosaic monosomy X, 35%; and structural abnormalities of the X chromosome, 7%. In 46 (26%) of the females a total of 69 cardiovascular malformations were found; aortic valve abnormality (18%) and aortic coarctation (10%) being the most common. There was a significant difference in the prevalence of cardiovascular malformations between 45,X and mosaic monosomy X (38% v 11%), primarily due to a significant difference in the prevalence of aortic valve abnormalities and aortic coarctation. Pulmonary valve abnormalities were seen only in females with mosaic monosomy X but the prevalence was low (3%). No patient with structural abnormalities of the X chromosome had cardiovascular malformations.