The pectoralis minor (PMi) is a key muscle of the pectoral region, situated deep to the pectoralis major. It plays a crucial role in connecting the upper limb to the thoracic cage. During a routine dissection of a male cadaver, we observed a rare case of unilateral congenital absence of the PMi. This finding highlights the clinical significance of anatomical variations of the pectoral muscles. Awareness of such variations is essential for physicians, surgeons, and anesthesiologists, as it impacts the diagnosis and management of patients with congenital chest, shoulder, and limb deformities, as well as surgical procedures in this region.

BackgroundPediatric inguinal surgeries, including procedures for inguinal hernias, undescended testes, and hydroceles, are among the most common surgical interventions in children. While these conditions are well-understood, rare intraoperative findings and anatomical variations can complicate surgical management. This study reviews a decade of experience at a single institution to evaluate the incidence, management, and outcomes of such rare findings.MethodsA retrospective observational study was conducted at a tertiary pediatric surgery center in Egypt, analyzing all inguinal surgeries performed between 2013 and 2022. Patients aged ≤14 years with complete operative records were included. Rare findings were defined as anomalies not typically encountered in standard procedures and were independently reviewed by two surgeons. Data were extracted from surgical logs, operative notes, and electronic records.ResultsAmong 8,756 patients (85.5% male, 14.5% female), rare intraoperative findings were identified in 69 cases (0.8%). These included Amyand's hernia (n = 12), looping vas deferens (n = 34), splenogonadal fusion (n = 2), complete androgen insensitivity syndrome (CAIS, n = 7), congenital unilateral absence of the vas deferens (CUAVD, n = 5), crossed ectopic testes (n = 5), ureteroinguinal hernia (n = 1), Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome (n = 1), and encysted hydrocele (n = 1, female). Most anomalies were identified incidentally, with management tailored to preserve function and minimize complications.ConclusionRare findings in pediatric inguinal surgery, though uncommon (<1%), necessitate surgical adaptability and awareness. Preoperative imaging and laparoscopic techniques enhance detection and management. Training programs should emphasize these anomalies to optimize outcomes.

The genetic etiology is unknown for 30-40% of men with congenital bilateral absence of the vas deferens (CBAVD) and 70% of those with congenital unilateral absence of the vas deferens (CUAVD). The study aimed to investigate the genetic etiology of CBAVD/CUAVD, both with and without renal anomalies, in individuals who are negative for CFTR pathogenic variants. We included 19 cases of congenital absence of vas deferens (CAVD) that were negative for CFTR variants on Sanger sequencing. Whole-exome sequencing (WES) was performed in 16 men with CAVD. Targeted resequencing was carried out in a total of 19 CAVD cases [16 CAVD cases for which WES was performed and an additional 3 CBAVD cases without renal anomalies]. A novel, hemizygous ADGRG2 pathogenic variant (c.1706 C > T; p.T569I) was identified in two men with CBAVD without renal anomalies. Additionally, we detected pathogenic variants in AR, NCKPAL1, FSHR, and SLC26A4 genes in CBAVD without renal anomalies. Pathogenic variants were detected in FREM1, WNT2B, and TBX6 genes in CBAVD men with renal abnormalities. No variants were detected in CUAVD with renal anomalies. In addition to a novel pathogenic variant in the ADGRG2 gene, we report novel candidate genes AR, NCKPAL1, FSHR, and SLC26A4, for CBAVD. We identified variants in the FREM1, WNT2B, and TBX6 genes in CBAVD with renal anomalies. ADGRG2 testing could be useful for appropriate genetic counselling for the X-linked transmission of the molecular defect in CFTR-negative CBAVD. We recommend whole-exome sequencing for genetic screening of CBAVD for CFTR, ADGRG2, and other candidate genes prior to undergoing Intracytoplasmic sperm injection (ICSI).

Comprehensive rehabilitation of cleft lip and palate (CLP) necessitates a meticulously coordinated, multidisciplinary approach due to the complexity of skeletal and dental anomalies involved. This report outlines the phased management of a growing female patient presenting with unilateral CLP and congenital absence of the upper left lateral incisor. Treatment involved a sequence of orthodontic and surgical interventions including maxillary expansion with a quad-helix appliance, secondary alveolar bone grafting, canine mesialization through a tooth-borne distractor, mandibular repositioning through the inferior subapical osteotomy, genioplasty, and secondary rhinoplasty. At the 5-year follow-up, both functional and esthetic outcomes remained stable underscoring the efficacy of the interdisciplinary treatment strategy.

BackgroundVasoepididymostomy (VE) is an important surgical treatment to achieve natural conception for patients with obstructive azoospermia (OA), and only unilateral VE can be performed under certain conditions, such as OA patients with congenital unilateral absence of the vas deferens (CUAVD) and some acquired OA. There is a lack of relevant reports assessing the clinical outcomes of unilateral VE in OA patients with different causes. This study is aimed to describe the clinical features and evaluate treatments and outcomes of unilateral single-armed VE in OA patients.MethodsFrom December 2015 to June 2021, 46 OA patients (including 13 CUAVD-associated OA and 33 acquired OA) underwent unilateral single-armed VE in Shanghai General Hospital (Shanghai, China). Patient information, semen analysis, hormone profiles, and treatment information were collected, and the clinical outcomes were evaluated.ResultsObstruction in distal of unilateral vas deferens (16/46) was the most common cause for OA patients underwent unilateral VE, and CUAVD accounts for 28.4% (13/46). The overall patency rate was 50.0% (23/46), with 38.5% (5/13) for the CUAVD group and 54.5% (18/33) for the acquired group (p > 0.05). The natural pregnancy rates in CUAVD group and acquired group were 20.0% and 33.3%, respectively (p > 0.05).ConclusionsThese findings suggest unilateral single-armed VE can achieve high patency and pregnancy rates in OA patients, whether for CUAVD or acquired OA patients.

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

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.

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 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. 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). In patients with lung hypoperfusion, the possible complication of lung fibrosis should be considered.

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.

Journal Article Dynamic digital radiography: a novel quantitative modality to assess the pulmonary blood flow Get access Daisuke Toyomura, Daisuke Toyomura Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University Hospital, 3-1-1, Maidashi, Higashi-ku, Fukuoka 812-8582, Japan https://orcid.org/0000-0001-9503-7903 Search for other works by this author on: Oxford Academic PubMed Google Scholar Kenichiro Yamamura, Kenichiro Yamamura Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University Hospital, 3-1-1, Maidashi, Higashi-ku, Fukuoka 812-8582, Japan Corresponding author. Tel: +81 92 642 5421, Fax: +81 92 642 5146, Email: yamamura.kenichiro.542@m.kyushu-u.ac.jp Search for other works by this author on: Oxford Academic PubMed Google Scholar Yuzo Yamasaki Yuzo Yamasaki Department of Clinical Radiology, Kyushu University Hospital, 3-1-1, Maidashi, Higashi-ku, Fukuoka 812-8582, Japan Search for other works by this author on: Oxford Academic PubMed Google Scholar European Heart Journal, Volume 44, Issue 16, 21 April 2023, Page 1479, https://doi.org/10.1093/eurheartj/ehad112 Published: 08 March 2023

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.

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.

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.

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.

Background:We aim to determine the prevalence of renal anomalies in patients with congenital vas deferens agenesisreferred 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 wereexamined by abdominal ultrasound for detecting the genital and kidney anomalies. An informed consent form wasfilled out by patients. Data was entered into SPSS software 21. Patients were divided into two groups in termsof 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 consideredsignificant.Results:The mean age of participants was 33.05 ± 6.35. The frequency of CBAVD was 66 and the frequency of leftside VD and right side VD were 23 and 21, respectively. The percentage of other comorbidities was calculated. Outof 110 cases, 12 (11%) men had coexistence of vas deferens and kidney agenesis. Other studies are in agreement withour findings. Although the percentage of CBAVD and CUAVD were 9.1% and 1.8% respectively, the difference wasnot significant (P=0.07).Conclusion:Considering the fact that kidney agenesis is a remarkable congenital anomaly that coexists with themajority of vas deferens agenesis cases and could not be detected by routine laboratory tests or transrectal ultrasoundexamination, it should be ruled out with transabdominal ultrasound examination after detection of vas deferensagenesis.

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.

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.

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 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.