Congenital Unilateral Absence Research Articles

Congenital absence of anterior and posterior cruciate ligaments – A rare case report and review of literature

A rare occurrence, congenital absence of the cruciate ligaments has a prevalence of 0.017/1000 live births. A literature review on the PubMed database revealed only a few case reports of both coexisting anterior cruciate ligament and posterior cruciate ligament congenital absence. Most cases were found to be associated with other congenital abnormalities, making isolated congenital absence of the cruciate ligaments exceptionally rare. Liu et al. reported a total of nine cases to date, with our case being the second youngest and having no other associated knee pathologies. Our report presents a 4-year-old girl with unilateral congenital absence of a cruciate ligament, diagnosed through magnetic resonance imaging. It is crucial to be aware of this rare abnormality for proper management and to minimize morbidity.

A silent anomaly: congenital unilateral absence of pulmonary artery incidentally discovered in adulthood, presenting as pulmonary hypertension and chronic respiratory failure—case report

A silent anomaly: congenital unilateral absence of pulmonary artery incidentally discovered in adulthood, presenting as pulmonary hypertension and chronic respiratory failure—case report

Congenital unilateral absence of the vas deferens

Introduction: A 65-year-old male with a known history of unilateral renal agenesis was found to have concurrent absence of the vas deferens ipsilaterally. Case Report: The patient presented with organic erectile dysfunction and wanted to proceed with surgical management. Routine pre-operative evaluation confirmed history of a left solitary kidney, and physical exam revealed absence of the right vas deferens. Previous imaging confirmed right renal agenesis, and with subsequent absence of the right vas deferens noted on physical exam, this confirmed embryological arrest as the cause of the anatomic abnormality. Conclusion: Congenital unilateral absence of the vas deferens (CUAVD) is an uncommon finding that is largely found during infertility evaluations and vasectomy consults. It is important to understand genetic components and embryological origins of CUAVD to appropriately evaluate patients for additional defects.

Chest Computed Tomography Findings in Unilateral Pulmonary Fibrosis Secondary to Chronic Hypoperfusion

Purpose: Unilateral lung fibrosis is uncommon and few cases secondary to parenchymal hypoperfusion have been reported, requiring further understanding of this entity. This study aims to report the chest computed tomography (CT) findings of patients with unilateral lung fibrosis related to parenchymal hypoperfusion observed in our institution. Patients and Methods: Patients with a chest CT between 2004 and 2022 showing a condition causing hypoperfusion of either lung and ipsilateral unilateral lung fibrosis were retrospectively identified. Clinical and scintigraphic data were collected. Pattern and distribution of fibrosis were recorded, and its progression was evaluated when follow-up was available. In adequate CTs, fibrosis was quantified using data-driven textural analysis (DTA). Affected and contralateral lungs and baseline and follow-up data were compared using the Wilcoxon signed-rank test. Results: Thirteen patients (male: 7, female: 6, median age: 61 y) were included; 5 with congenital unilateral absence of a pulmonary artery and 8 with fibrosing mediastinitis. The mean scintigraphic perfusion of affected lungs was 3.3% ± 1.1 compared with 96.7% ± 1.1 contralaterally (n = 7, P = 0.017). Fibrosis had a UIP pattern in one case, indeterminate in the others, and was most commonly diffuse craniocaudally and peripheral or central axially. DTA in 12 patients showed a mean fibrotic score of 32% ± 24.6 compared with 0.5% ± 0.4 in the contralateral lungs (P = 0.002). Median follow-up was 4.5 years (minimum to maximum: 1 to 13 y). Of 10 patients, fibrosis was progressive in 60%. DTA of 5 follow-up CTs showed increased reticulations (P = 0.043). Conclusion: In patients with lung hypoperfusion, the possible complication of lung fibrosis should be considered.

(331) Whole Exome Sequencing Identifies Rare CFTR Variant in Two Brothers with CBAVD and CUAVD

Abstract Introduction Congenital Bilateral Absence of the Vas Deferens (CBAVD) is a condition leading to obstructive azoospermia and male infertility. CBAVD is associated with mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Congenital Unilateral Absence of the Vas Deferens (CUAVD), where only one vas deferens is missing, is also associated with mutations in the CFTR gene. However, the genetic causes of both conditions are not fully understood and warrant further investigation. We present two brothers, one with CBAVD and one with CUAVD, who were subjected to whole exome sequencing. Objective To assess genetic similarities using whole exome sequencing between two brothers with differing reproductive capacities. Methods Whole exome sequencing was performed in two brothers. Subject A was 39-year-old-male who had previously fathered a child and was diagnosed with CUAVD during his vasectomy. Subject B was a 37-year-old male diagnosed with CBAVD, and genetic testing significant for one copy of a mutated cystic fibrosis gene (unaffected CF carrier). Whole blood was collected. DNA was extracted and quality assessed. Finally, whole exome sequencing was completed. Results Whole exome sequencing results were subjected to annotation and filtering. Both subjects were noted to share a rare mutation in the CFTR gene (p.R347H). CFTR mutations are the most common cause of CBAVD and have also been linked to CUAVD. However, this is a unique case of two brothers with the same genetic mutation but different phenotypic expressions of the mutation. Conclusions We have identified a rare CFTR variant (p.R347H) in two brothers with different reproductive capacities. We present evidence that absence of the vas deferens (unilateral or bilateral) may be associated with CFTR mutations, even in the absence of diagnosed cystic fibrosis. Understanding the phenotypic spectrum of CFTR gene mutations is pivotal to treating associated male infertility. Disclosure Any of the authors act as a consultant, employee or shareholder of an industry for: Acerus Pharmaceuticals, Boston Scientific, Coloplast, Endo Pharmaceuticals, Empower Pharmacy, Nestle Health, Olympus, Hims Inc.

Dynamic digital radiography: a novel quantitative modality to assess the pulmonary blood flow.

A 17-year-old girl with congenital unilateral absence of the pulmonary artery underwent surgical reconstruction of the right pulmonary artery (RPA) with a 6 mm polytetrafluoroethylene vascular graft 15 years ago. She had received stent implantation (S.M.A.R.T® 7.0 × 60 mm) to control the graft stenosis at 10-years-old. Nevertheless, regular hemodynamic assessment with balloon angioplasty was required because of the recurrence of graft stenosis. The current cardiac catheterization demonstrated RPA graft stenosis with a pressure gradient of 34 mmHg (Panel A). Tecnethium-99m-macroaggregated albumin lung perfusion scintigraphy showed decreased perfusion in the right lung (right/left: 20.1%/79.9%) (Panel B). A similar result was achieved in dynamic digital radiography (DDR) captured by a flat panel detector (Aero DR fine®, KONICAMINOLTA, Japan) and a conventional X-ray system (RAD speed Pro®, SHIMADZU, Japan), using a prototype workstation (KONICAMINOLTA, Japan) (right/left: 17.4%/82.6%). (Panel C, and Supplementary data online, Video) Lung perfusion scintigraphy has been a golden standard modality for the quantitative assessment of pulmonary blood flow laterality and is inevitably accompanied by radiation exposure. DDR is a new imaging to visualize small changes in pixel value representing the pulmonary circulation without contrast media.1,2 This imaging system can facilitate both qualitative and quantitative evaluations of the dynamic pulmonary circulation with a low cost, short examination time, and reduced radiation exposure. This convenient and non-invasive method will be an effective and alternative approach to assessing lung perfusion in patients with pulmonary artery stenosis.

Congenital unilateral absence of right pulmonary artery with VSD and wide aortopulmonary window in an adult patient: a case report.

We present a case of a 28-year-old male who visited our center with the diagnosis of ventricular septal defect with Eisenmenger syndrome elsewhere for further evaluation and was found to have right-sided UAPA with ipsilateral pulmonary hypoplasia and some associated cardiac anomalies. Discussions are held regarding typical chest radiograph findings, diagnostic methods, and possible therapies. Physicians should be aware of UAPA, which might go undiagnosed for several years despite regular medical care and can show up later in life, causing chronic respiratory symptoms along with Eisenmenger syndrome and ventricular septal defect like in our case.

Correlation between CFTR variants and outcomes of ART in patients with CAVD in Central China

Biallelic variants in Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) are the main pathogenic factor of congenital absence of the vas deferens (CAVD), including congenital bilateral absence of the vas deferens (CBAVD) and congenital unilateral absence of the vas deferens (CUAVD). However, there are few reports about the correlation between CFTR variant and outcomes of assisted reproductive technology (ART) in CAVD patients of China. In this study, 104 patients with CAVD were recruited in Central China, and provided gene detection by the whole-exome sequencing, among them 69% (72/104) carried at least one variant in CFTR and one carried adhesion G protein-coupled receptor G2 (ADGRG2) variant. A total of 81 CAVD patients were treated with ART, of which 21 and 60 carried none or at least one variant in CFTR, respectively. The fertilization rate, cleavage rate, effective embryo rate, implantation rate, clinical pregnancy rate and live birth rate per fresh embryo transfer were compared between patients with and without CFTR variants. It was found that the ART outcomes had no significant difference whether the patients carried the CFTR variant or not. In addition, all of the offspring were healthy after follow-up. In conclusion, rare CFTR variants may play a major role in patients with CAVD in Central China, which were greatly different from other descent. There was no significant difference in ART outcomes in CAVD patients with or without CFTR variants. The limitations of this study were that there was no statistical analysis of the sperm quality through TESA and conclusions were relatively limited due to the small sample size of the study.

Clinical features and microsurgical reconstruction of congenital unilateral absence of the vas deferens with obstructive azoospermia: a tertiary care center experience.

Patients with congenital unilateral absence of the vas deferens (CUAVD) manifest diverse symptoms from normospermia to azoospermia. Treatment for CUAVD patients with obstructive azoospermia (OA) is complicated, and there is a lack of relevant reports. In this study, we describe the clinical features and evaluate the treatments and outcomes of CUAVD patients with OA. From December 2015 to December 2020, 33 patients were diagnosed as CUAVD with OA in Shanghai General Hospital (Shanghai, China). Patient information, ultrasound findings, semen analysis, hormone profiles, and treatment information were collected, and the clinical outcomes were evaluated. Of 33 patients, 29 patients were retrospectively analyzed. Vasoepididymostomy (VE) or cross VE was performed in 12 patients, the patency rate was 41.7% (5/12), and natural pregnancy was achieved in one of the patients. The other 17 patients underwent testicular sperm extraction as the distal vas deferens (contralateral side) was obstructed. These findings showed that VE or cross VE remains an alternative treatment for CUAVD patients with OA, even with a relatively low rate of patency and natural pregnancy.

Goldberg Shprintzen Syndrome: The Novel Association with Congenital Unilateral Anorchia (Monorchism)

Background: Goldberg Shprintzen syndrome is a very rare autosomal recessive mental-growth retardation syndrome associated with characteristic facial dysmorphism, Hirschsprung disease, and a variety of neurological abnormalities, and abnormalities on brain imaging studies. However, the association of the syndrome with congenital unilateral absence of the testis (monorchism) has not been reported before. We have previously reported the thirty fourth and thirty fifth cases of the syndrome which occurred in Iraqi brothers, and described a novel therapeutic approach which was used to treat the younger brother. The aim of this paper is to report the novel association of Goldberg Shprintzen syndrome with congenital right monorchism. Patients and methods: T.A.S, the younger of two brothers with Goldberg Shprintzen syndrome was first seen at the age of four years and 10 months at the pediatric neuro-psychiatric clinic on the 29th of August, 2019. He had spastic right hemiparesis and was unable to walk alone, and was not saying any word and had characteristic facial features including hypertelorism, narrow palpebral fissures, open mouth, and laterally lifted ear. He also had neonatal intestinal obstruction which was attributed to Hirschsprung disease, and was treated surgically with resection and colostomy. The boy was treated successfully with novel therapeutic approach and experienced improvement in cognitive abilities, speech, and motor function, and after treatment was able to walk alone. Results: During July, 2021, the family reminded us that the child had single testis in the scrotum, and during early infancy an MRI study failed to find any second testis anywhere. An ultrasound was performed and showed normal left testis. However, the right testis could not found in the right hemi-scrotal sac nor with the right inguinal canal or within the abdomen. Thus, the ultrasound confirmed the earlier MRI findings which suggested congenital absence of the right testis (monorchism). Conclusion: This paper reported the novel association of Goldberg Shprintzen syndrome with monorchism, and this case represented the third case of congenital syndromic monorchism in the world.

Unilateral Kidney Agenesis and other Kidney Anomalies in Infertile Men with Congenital Bilateral Absence of Vas deferens: A Cross-Sectional Study.

Background:We aim to determine the prevalence of renal anomalies in patients with congenital vas deferens agenesis referred for infertility assessment.Materials and Methods:This cross-sectional study was carried out on eligible infertile men from 2016 to 2019. Infertile men who were suspected of obstructive azoospermia were referred to the Ultrasound ward and they were examined by abdominal ultrasound for detecting the genital and kidney anomalies. An informed consent form was filled out by patients. Data was entered into SPSS software 21. Patients were divided into two groups in terms of congenital bilateral absence of vas deferens (CBAVD) or congenital unilateral absence of the vas deferens (CUAVD). Using the Chi-square test kidney anomalies between groups were compared. The P<0.05 was considered significant.Results:The mean age of participants was 33.05 ± 6.35. The frequency of CBAVD was 66 and the frequency of left side VD and right side VD were 23 and 21, respectively. The percentage of other comorbidities was calculated. Out of 110 cases, 12 (11%) men had coexistence of vas deferens and kidney agenesis. Other studies are in agreement with our findings. Although the percentage of CBAVD and CUAVD were 9.1% and 1.8% respectively, the difference was not significant (P=0.07).Conclusion:Considering the fact that kidney agenesis is a remarkable congenital anomaly that coexists with the majority of vas deferens agenesis cases and could not be detected by routine laboratory tests or transrectal ultrasound examination, it should be ruled out with transabdominal ultrasound examination after detection of vas deferens agenesis.

Development of a multivariable prediction model for congenital unilateral absence of the vas deferens in male partners of infertile couples.

Congenital unilateral absence of vas deferens has been diagnosed in fertile and normozoospermic males and is associated with the risk of unilateral renal absence or cystic fibrosis transmembrane conductance regulator mutations; but no prediction model currently exists to diagnose this condition. The study aims to identify clinical and biological variables that may have a predictive value for the diagnosis of congenital unilateral absence of vas deferens in male partners of infertile couples MATERIALS AND METHODS: We designed a retrospective, cross-sectional, case-control study on electronic health records of a single tertiary-care andrological centre collected between 1998 and 2018. We included all subjects diagnosed with congenital unilateral absence of vas deferens using combined scrotal and transrectal ultrasounds. Controls were confirmed free of congenital unilateral absence of vas deferens by the same way. Both groups received standardised exploration procedures. Multivariable logistic regression model was built in a backward stepwise manner. Model performance and calibration were assessed. The study is reported according to TRIPOD statement. We included 69 congenital unilateral absence of vas deferens cases and 78 controls. Cases had a lower semen volume than controls. The congenital unilateral absence of vas deferens risk was associated with history of cryptorchidism and both levels of semen fructose and α-glucosidase. These predictors were confirmed by a random forest algorithm. The area under the curve was 0.886 (95% interval: 0.81-0.92). Calibration was performed with the Hosmer-Lemeshow test (p=0.88). History of cryptorchidism, semen fructose and α-glucosidase were identified as relevant and independent predictors for the diagnosis of congenital unilateral absence of vas deferens. The model enables to identify male patients with a high risk of congenital unilateral absence of vas deferens to whom a transrectal ultrasounds would be proposed to confirm the diagnosis, whatever their semen parameters. It will also help to address the risks of unilateral renal absence and of cystic fibrosis transmembrane conductance regulator mutations carrying during the management of infertile couples.

Multimodality imaging and clinical significance of isolated congenital absence of the pericardium

Background. Congenital absence of the pericardium is a rare anomaly characterized by variable and non-specific clinical manifestations. The prevalence of this pathology in the population is approximately 0.0001 – 0.044% and it is almost three times more common in men. However, the real prevalence, including asymptomatic and undiagnosed cases, may be higher. Purpose – highlighting the echocardiographic and tomographic signs of isolated congenital absence of the pericardium. Materials and methods. A 42-year-old patient M. Echocardiography did not permit to obtain standard echo images via typical echocardiographic approaches due to poor acoustic window. Magnetic resonance imaging and computed tomography of the heart revealed marked left heart rotation and confirmed the most common variant of congenital absence of the pericardium, that is complete left-sided absence pericardial agenesis. Results. The presented case illustrates the non-specificity of clinical symptoms in patients with congenital absence of the pericardium. The electrocardiogram of the patient showed right axis deviation, right bundle branch block, poor R wave progression in the precordial leads. Chest X-ray in the anterior-posterior projection typically shows a pronounced displacement of cardiac silhouette to the left without deviation of the trachea, elongated left border of the heart and inability to delineate the right border, indicating left heart rotation. Echocardiography revealed an unusual orientation of the heart in the chest, i.e. the displacement of the heart (particularly, of the apical segments) to the left and backwards. In cases when the pericardium is absent on the right and on both sides, the right ventricle can indeed be enlarged, sometimes there is a paradoxical motion of the interventricular septum, severe tricuspid regurgitation as well as the swinging motion of the cardiac apex. Magnetic resonance imaging and computed tomography of the heart enable detection of the displacement of the heart to the left half of the chest with cardiac apex directed backwards, the interposition of lung tissue between the ascending aorta and the pulmonary artery trunk. Conclusions. Congenital absence of the pericardium is a rare pathology and thus it can be challenging in terms of diagnosis, while sometimes it remains undiagnosed. The combination of echocardiography with magnetic resonance imaging and/or computed tomography allows to accurately diagnose congenital absence of the pericardium and assess the risks associated with it. Most patients with complete unilateral or bilateral congenital absence of the pericardium have a favorable prognosis and do not require treatment.

Unilateral congenital lunate absence: A case report

Isolated congenital aplasia of carpal bones in the absence of an associated congenital syndrome is exceedingly rare. Since the first documented case report of congenital carpal bone absence in 1911, only 12 additional case reports have been published. Here we present a case report of an otherwise healthy 43-year-old male with unilateral congenital absence of the lunate, which has only been previously reported once in the literature.

A CASE OF CONGENITAL UNILATERAL ABSENCE OF THE VAS DEFERENS WITH SUSPECTED IPSILATERAL RENAL AGENESIS

A 5-month-old boy was referred to our department to examine poor development of external genitalia. The patient was diagnosed with micropenis and bilateral impalpable testes, and testosterone replacement therapy was recommended. The testes remained impalpable at 14 months of age; therefore, laparoscopy was performed to explore intra-abdominal testes. The patient was incidentally diagnosed with congenital unilateral absence of the right vas deferens. A renal sonography performed after the operation revealed a high possibility of right renal agenesis. Congenital absence of the vas deferens is associated with a high probability of renal anomalies. It is, therefore, essential to pay careful attention to renal dysfunction.

Prevalence of congenital absence of vas deferens and related genetic factors among male infertilities: A systematic review

A systematic review was conducted to describe the prevalence of congenital absence of vas deferens (CAVD) and types of cystic fbrosis transmembrane conductance regulator (CFTR) gene mutation, Adhesion G-protein coupled receptor G2 (ADGRG2) mutation leading to CAVD among male infertilities aimed at providing comprehensive counseling in the treatment of male infertility. Information and data from eligible publications were searched and selected from the PubMed and Medline e-library from 2010 to 2020 by using 8 main keywords. The results showed that the prevalence of CAVD was approximately 0.1% in male and about 80% of congenital bilateral absences of the vas deferens (CABVD) patients had the CFTR mutation. These mutations were recessive gene abnormalities on the long arm of chromosome 7. Besides the mutation, recent researches showed the mutation of the ADGRG2 gene on X chromosome also led to CBAVD. It was approximately 10 - 20% of CBAVD and 60 - 70% of the congenital unilateral absence of the vas deferens (CUAVD) that was still not diagnosed genetically. In conclusion, the genetic consultation is necessary for CAVD patients before deciding to have a baby

A comprehensive study of congenital unilateral absence of branch pulmonary artery associated with other congenital heart defects and ipsilateral non-unifocalizable major aorto-pulmonary collateral arteries: A single-center retrospective study.

Introduction:Congenital unilateral absence of pulmonary artery (UAPA) is a rare congenital anomaly with the complete absence of intrapericardial segment of one of the branch pulmonary arteries. Sixty percent are associated with other congenital heart defects (CHD) that often need correction.Aim:To analyze the data of patients with UAPA and ipsilateral non-unifocalizable major aortopulmonary collateral arteries (MAPCAs) associated with other CHD to identify the commonly associated CHD, their management strategies and outcomes.Materials and Methods:Retrospective data of patients admitted for congenital UAPA with other CHD was compiled from hospital records from 2002 to 2015. The associated CHD were categorized as group I with the decreased pulmonary flow and group II with increased pulmonary flow to the unaffected contralateral pulmonary artery. The determinants of their management were analyzed.Results:Sixty-five patients of UAPA and ipsilateral non-unifocalizable MAPCAs associated with other CHD were identified. Group I had 41 patients and Group II had 24. The most common CHD associated with UAPA was tetralogy of Fallot (TOF) in 31 patients (47.7%). Fifty-three patients underwent surgery, 48 (73.8%) underwent single lung corrective surgery, 5 (7.6%) palliative surgery and 12 (18.4) received no surgery. Four operated patients died in the immediate postoperative period. The lowest Mc Goon ratio and Nakata index to undergo corrective surgery were 1.0 and 87.4 mm2/m2. A follow-up of 21 patients was done, among which 11 patients who underwent single-stage corrective surgery, all are in NYHA class II and saturating above 95%.Conclusions:Congenital UAPA is a rare anomaly and associated with a variety of CHDs, TOF being the most common. Single lung corrective surgery in patients with ipsilateral non-unifocalizable MAPCAs has good immediate and long term survival.

Congenital unilateral absence of the lacrimal gland combined with lipoma. A rare case of unilateral congenital alacrima

The purpose of this report is to describe a case of a unilateral congenital absence of the lacrimal gland in a 7-year-old girl with, ocular symptoms, no tear production, and a conjunctival tumour at the supero-external angle of the right eye. The visual acuity was 20/20 in both the eyes. The right eye showed mucous secretion, corneal erosions , and filaments. Anamnesis , physical examination and clinical tests ruled out systemic diseases associated with congenital alacrima, as well as rheumatic, immunological, and infectious diseases. Nuclear Magnetic Resonance, with various fat suppression techniques, demonstrated the absence of the right lacrimal gland and the presence of a tumour compatible with lipoma. This case, to our knowledge, is the first report of unilateral absence of the lacrimal gland combined with lipoma. El propósito de este artículo es describir un caso de agenesia lagrimal congénita unilateral en una niña de 7 años con síntomas oculares, ausencia de secreción lagrimal y una tumoración conjuntival en el ángulo supero externo del ojo derecho. La agudeza visual era de 20/20 en ambos ojos. El ojo derecho presentaba secreción mucosa, erosiones y filamentos corneales. La anamnesis, exploración física y pruebas analíticas descartaron enfermedades sistémicas asociadas a la alacrimia congénita, así como enfermedades reumatológicas, inmunológicas o infecciosas. La resonancia nuclear magnética con diversas técnicas de supresión grasa mostró la ausencia de glándula lagrimal derecha y la presencia de una tumoración compatible con lipoma. Este caso, para nuestro conocimiento, representa la primera comunicación de una agenesia unilateral de glándula lagrimal combinada con un lipoma.

Prevalence of CBAVD in azoospermic men carrying pathogenic CFTR mutations - Evaluated in a cohort of 639 non-vasectomized azoospermic men.

BackgroundMen with obstructive azoospermia (OA) due to impaired development of the genital tract often carry at least one Cystic Fibrosis Transmembrane Conductance Regulator CFTR mutation.ObjectiveTo determine the frequency of Congenital Bilateral Absence of Vas deferens (CBAVD) in men with azoospermia carrying CFTR gene mutations.Materials and methodsNon‐vasectomized men with azoospermia referred to our andrological center were consecutively included. All men underwent palpation of the scrotal parts of the Vasa deferentia, ultrasonography of the testicles and hormone profile, and genetic analyses. Testicular biopsy was usually performed. A panel of 32 of the most important CFTR mutations was examined from genomic DNA isolated from blood lymphocytes. Either multiplex PCR analysis or a next‐generation sequencing technique was performed.ResultsAmong the 639 men with azoospermia, 69 (10.8%) had at least one CFTR mutation. Of the 43 patients with at least one of the two CFTR mutations, ΔF508 and R117H, 19 (44.2%) showed CBAVD, 2 (4.7%) Congenital Unilateral Absence of Vas deferens (CUAVD), and 22 (51.2%) presence of the scrotal parts of the Vasa deferentia. In contrast, only 1/21 men (4.8%) with an isolated IVS8‐5T variant showed CBAVD. Among the further 20 men with an isolated IVS8‐5T variant, 11 had a history of cryptorchidism. Among the 570 men without CFTR mutations, CBAVD was found in only two men and CUAVD in one. FSH level was higher and testicular volume lower in men with present Vasa deferentia compared to those without (P < .001; Student's t test). Thirty‐one men with either ΔF508 or R117H mutations, or both, had a testicular biopsy. Motile spermatozoa were found in 100% of 16 cases with CBAVD but in only 6 out of 15 cases with present Vasa deferentia (P < .01; Fisher's exact test).Discussion and conclusionsCBAVD was found in ~ 44% of men with ΔF508/R117H mutations. The data may support that CFTR mutations might affect male fertility through other mechanisms than obstruction of the genital tract. For a practical, clinical purpose analysis for only ΔF508, R117H and IVS8‐5T seems sufficient until further research shows anything else.

Congenital unilateral absence of facial nerve with hypoplastic abducens nerve: A case report of rare Moebius syndrome

Moebius syndrome is a rare congenital neurological disorder characterized by bilateral facial and abducens nerve paralysis. The syndrome may also include involvement of the other cranial nerves and various other congenital deformities and malformations. A one-month-old male infant presented with facial asymmetry, inability to close eye, and drooling of saliva from one side of the mouth, diagnosed to have Moebius syndrome. Early diagnosis of the cases by experienced clinicians and a supportive multidisciplinary approach can help children with Moebius syndrome and prevent associated complications.