Psychiatric Comorbidities in Women with Complete Androgen Insensitivity Syndrome or Müllerian Aplasia/Agenesis.

CONTEXT: Understanding mental health issues facing individuals with disorders/differences of sex development (DSD) is crucial for optimizing evidence-based practices in this population. OBJECTIVES: To compare the prevalence of psychiatric diagnoses among patients diagnosed with complete androgen insensitivity syndrome (CAIS) or Müllerian duct aplasia/agenesis (MA) to male and female reference groups. DESIGN: Retrospective cohort study. SETTING: Three large integrated health systems. PARTICIPANTS: All individuals with confirmed CAIS or MA enrolled in one of three Kaiser Permanente healthcare systems between January 1, 1988, and January 31, 2017. For each DSD patient, age-, race/ethnicity- and health system-matched male and female referents with typical sex development were randomly selected. OUTCOMES/MEASURES: Mental health diagnoses and use of psychiatric medications. RESULTS: The prevalence of anxiety and depressive disorders in the CAIS and MA cohorts was approximately twice as high as in male referents without DSD, but the corresponding differences relative to female referents were less evident. A subgroup of MA patients with uterine agenesis had higher prevalence of bipolar disorder than either reference group, but these results were accompanied by wide confidence intervals. Women with CAIS and MA more frequently filled psychiatric medications compared to male but not female referents. CONCLUSION: On balance, these findings are reassuring, albeit requiring confirmation in other settings. Future studies using longitudinal designs and patient-reported outcomes are needed to evaluate changes in mental health status of CAIS and MA patients at different ages and different intervals following initial diagnosis.

Recurrent positional unilateral pulmonary edema following CABG: an uncommon case report.

We reported a case of pericardial agenesis discovered at the age of 60 during coronary artery bypass grafting surgery. However, this anomaly was not treated during the initial surgery. During the post-operatory period, the patient developed recurrent unilateral right pulmonary edema whenever assuming a semi-upright position. We hypothesized that the positional hemodynamic alterations in this patient were related to this rare congenital anomaly. The patient underwent reoperation, 48 hours later, with synthetic pericardial reconstruction and experienced an uneventful recovery during follow-up.

Corpus callosal agenesis with gray matter heterotopia and bilateral eye coloboma in an infant: A case report.

Corpus callosal agenesis (CCA) is a rare congenital disorder characterized by the partial or complete absence of the corpus callosum, a structure crucial for interhemispheric communication. CCA can occur in isolation or be associated with other anomalies such as heterotopia, holoprosencephaly, cerebellar hypoplasia, coloboma, and hydrocephalus. The prevalence of CCA ranges from 0.020% to 0.025%, though some reports suggest higher rates. This case report describes a 1-year-old male with developmental delays and no significant antenatal or family history. MRI revealed a complete absence of the corpus callosum, asymmetrically dilated lateral ventricles, subependymal gray matter nodules suggestive of gray matter heterotopia, and bilateral posterior globe defects with vitreous herniation, indicating severe ocular anomalies. The child received supportive care including physical therapy and special education services, with regular follow-ups for developmental and ophthalmologic evaluation. This case report details the rare occurrence of CCA, accompanied by gray matter heterotopia and bilateral posterior eye coloboma in a pediatric patient. The combination of these congenital anomalies presents unique diagnostic and management challenges requiring multidisciplinary care. We discuss the clinical presentation, radiological findings, and implications for supportive care and improving the prognosis.

Complete dorsal wall agenesis of the sacral canal in a Greek population: an osteological study.

INTRODUCTION: The failure of closure of the dorsal wall of the sacral canal (SC) has been known since the eve of modern osteology, appearing in prehistoric times. Variants include partial or complete absence of the dorsal wall of the SC. SC presents a pathway for minimally invasive therapeutic and diagnostic procedures for spinal diseases and for ensuring analgesia and anesthesia in operations, including labor and genitourinary surgery.

Agenesis of the Ductus Venosus and Its Association With Genetic Abnormalities.

OBJECTIVE: To investigate the association of agenesis of the ductus venosus (ADV) with genetic abnormalities using genetic studies-Chromosomal Microarray Analysis (CMA) and Exome Sequencing (ES). DESIGN: Retrospective study of all fetuses diagnosed with ADV between January 2013 and December 2022 in a tertiary center. RESULTS: ADV was diagnosed in 33 fetuses. The diagnosis was made at a mean gestational age of 21.2 ± 8.4 weeks. Conventional karyotype was applied in a single fetus (3.0%), CMA was applied in 21 fetuses (66.7%), and five fetuses (22.8%) were additionally tested with ES. ADV was isolated in eight fetuses (24%), whereas in 25 (76%) it was associated with abnormal ultrasound findings, including increased nuchal translucency (NT), intrauterine growth restriction (IUGR) and variable structural malformations, mostly cardiac (42%) followed by central nervous system (CNS) and skeletal malformations (24%). Genetic abnormalities were found in six fetuses out of 22 investigated (27%), of which 3 were detected by ES, 3 by CMA and 1 by conventional karyotype. A higher incidence of genetic aberrations was evident among ADVs associated with abnormal ultrasound findings. Genetic abnormalities were indicative of Prader Willi/Angelman syndrome, Noonan syndrome, CASK related disorder, 16q24.3 microdeletion syndrome and Trisomy 21. CONCLUSION: ADV associated with abnormal ultrasound findings is commonly correlated with genetic abnormalities and consequently unfavorable pregnancy outcomes. Our study emphasizes the value of genetic studies chiefly among cases associated with abnormal ultrasound findings, enabling early diagnosis of fetal pathologies associated with ADV, and providing better parental counseling.

Psychological impact of neovagina creation and uterus transplantation in the patients affected from Mayer-Rokitanski-Kuster-Hauser syndrome: A narrative review.

Mayer-Rokitanski-Kuster-Hauser (MRKH) syndrome consists of a congenital aplasia of the uterus and the upper part of the vagina. It is the most frequent congenital cause of absolute uterine factor infertility, determining psychological disorders due to infertility and reduced quality of sexual activity. Being the necessity of baseline and prolonged assessments, clinicians need evaluation parameters for the monitoring of patients to plan a suitable management strategy and for efficient support before and after interventions, such as neovagina and uterus transplantation. Research of the literature was performed in PubMed and SCOPUS by searching for the terms "Mayer-Rokitanski-Kuster-Hauser" AND "psychological disorders"; from the 60 articles obtained, only 35 articles regarding neovagina creation and uterus transplantation were considered for the present manuscript. Based on the literature, management of MRKH syndrome by neovagina creation, either surgically or not, can restore a satisfactory sexual life and to reduce stress, signs of mental disorder and depression and improve sexual activity and quality of life. A psychological assessment of candidates to UT and of their partners is necessary. Recipients had low levels of anxiety compared to the normal population at baseline but a transiently lowered physical quality of life 1 year after surgery; elevated anxiety scores are associated with childlessness in the long-term evaluation. Further research is necessary to develop suitable evaluation protocols and adequate supportive services, to improve the outcomes of patients who undergo neovagina creation and uterus transplantation.

Development of a new antibody drug to treat congenital tooth agenesis.

BACKGROUND: This study aimed to develop a therapeutic agent promoting teeth regeneration from autologous tissues for congenital tooth agenesis, specifically for hypodontia (≤ 5 missing congenital teeth, 10% prevalence) and oligodontia (≥ 6 missing congenital teeth, 0.1% prevalence). HIGHLIGHT: We studied mice genetically deficient in the USAG-1 protein, an antagonist of BMP/Wnt which forms excessive teeth. We identified USAG-1 as a target molecule for increasing the number of teeth. Crossing USAG-1-deficient mice with a congenital tooth agenesis model restored tooth formation. We produced anti-USAG-1 neutralizing antibodies as potential therapeutic agents for the treatment of congenital tooth agenesis. Mice anti-USAG-1 neutralizing antibodies can potentially rescue the developmentally arrested tooth germ programmed to a certain tooth type. A humanized anti-USAG-1 antibody was developed as the final candidate. CONCLUSION: Targeting USAG-1 shows promise for treating missing congenital tooth. Anti-USAG-1 neutralizing antibodies have been developed and will progress towards clinical trials, which may regenerate missing congenital teeth in conditions, such as hypodontia and oligodontia. The protocol framework for a phase 1 study has been finalized, and preparation for future studies is underway.

The corpus callosum and creativity revisited.

In 1969 Joseph Bogen, a colleague of Roger Sperry and the neurosurgeon who performed commissurotomy on Sperry's "split-brain" study participants, wrote an article subtitled "The Corpus Callosum and Creativity." The article argued for the critical role of the corpus callosum and hemispheric specialization in creativity. Building on a four-stage model of creativity (learning, incubation, illumination, refinement) and Sperry's innovative studies, the Bogens posited that in the intact brain, creativity relies on two opposing functions of the corpus callosum: (a) interhemispheric inhibition to facilitate simultaneous and independent activity of uniquely-specialized processing centers during learning and incubation and (b) interhemispheric facilitation to support the increased bi-hemispheric integration and coordination which produces illumination. This article revisits the Bogens' theory considering scientific discoveries over the past 50 years. We begin by reviewing relevant findings from split-brain studies, and then briefly consider findings from studies that examine the association of creativity with callosal structure and function in neurotypical participants. Finally, we provide an in-depth discussion of creativity in persons with agenesis of the corpus callosum (ACC)-the congenital absence of the corpus callosum. These three lines of inquiry strongly support the theory suggested by Bogen and Bogen in 1969 and provide further clarification regarding the critical and unique role of the corpus callosum in creative cognition.

Congenital Abnormalities Causing Hematocolpos: A Pictorial Essay.

Hematocolpos, characterized by the accumulation of menstrual blood in the vagina, is a rare condition often misdiagnosed due to its uncommon occurrence and non-specific symptoms. Main causes include imperforate hymen, obstructed hemivagina with ipsilateral renal anomaly (OHVIRA), congenital lower vaginal atresia, and complete transverse vaginal septum. Without early diagnosis and treatment, complications such as tubal adhesion, pelvic endometriosis, and infertility can occur. This article reviews the differential diagnosis and treatment of hematocolpos.

Creation of neovagina in women with Müllerian agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome) using fresh human amnion.

Objective: Several graft options can be used to construct a neovagina. This study aimed to evaluate the efficacy of creating a neovagina using a fresh human amnion in women with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Methods: Ten patients were analyzed retrospectively. Anatomical success was defined by a postoperative vaginal length ≥5 cm, and a width sufficient to comfortably accommodate the insertion of two fingers. Functional success was achieved when a score of >26.5 was attained on the Arabic validated version of the functional sexual function index (FSFI). Results: The mean vaginal length before surgery was 2.15±0.85 cm (range, 1.5-4.5). The mean vaginal length after surgery was 5.5±0.53 cm (range, 5-6), and all patients (n=10) achieved anatomical success. The FSFI score after surgery was 29.2±2.4, and eight patients achieved functional success. The mean operative time and estimated blood loss were 83.5±50.31 minutes (range, 42-210) and 122.0±75.69 mL (range, 20-250), respectively. None of the patients required intraoperative blood transfusion or experienced injury to vital organs. Four patients developed postoperative leukocytosis within 48 hours, and one patient experienced chronic pelvic pain that lasted more than 6 months postoperatively. No major postoperative complications, such as pelvic abscesses, open wounds, chronic vaginal discharge, or reoperation, were reported. Conclusion: Surgical dissection of the vesicorectal space and utilization of fresh human amnion to create a neovagina over a vaginal mold are technically feasible and safe, and are linked to favorable anatomical and functional outcomes in MRKH patients with vaginal agenesis.

Bronchogenic Cyst and Pericardial Agenesis: A Case Report.

Bronchogenic cysts are a rare congenital condition, and their association with pericardial agenesis is even more uncommon. We present the case of a 23-year-old patient who was diagnosed with an upper lobe bronchogenic cyst and subsequently underwent an upper lobectomy. Further evaluation revealed the presence of complete left pericardial agenesis.

Zinner syndrome: A rare congenital cause of infertility.

Zinner syndrome is a rare congenital malformation characterized by cystic seminal vesicles and ejaculatory duct obstruction in association with ipsilateral renal agenesis. It appears to be frequently linked to infertility. However, recent advances in imaging, notably MRI, have led to an increase in the diagnosis of this pathology. We describe the case of a 39-year-old patient receiving examination for primary infertility who was identified with Zinner syndrome using ultrasound, CT, and MRI; the patient did not report hemospermia, lower urinary tract symptoms, or perineal pain. Examining the abdomen and external genitalia revealed no abnormalities, and examining the rectal area revealed none at all. Zinner syndrome is a rare congenital condition; we report this case to highlight the etiopathogenesis of this seminal anomaly, its relationship with renal dysgenesis, and to illustrate the imaging of this condition through various diagnostic methods.

Rare Segmental Agenesis of Internal Carotid Artery without Rete-Like Collaterals: A Case Report.

Objective: Internal carotid artery (ICA) agenesis has been classified into six types: A-F. Type F demonstrates distal reconstitution of the ICA via anastomosis with distal branches of the external carotid artery. Herein, we report the ICA agenesis of type F without rete-like collaterals, which has not been previously reported. Case Presentation: An 80-year-old woman presented with segmental agenesis of the right ICA accompanied by an unruptured intracranial aneurysm. Stent-assisted coil embolization was successfully performed. Digital subtraction angiography showed segmental agenesis of the right ICA from the cervical to the ascending foramen lacerum segment, which was preoperatively supplied with collateral blood flow by a dilated right accessory meningeal artery (AMA) anastomosed with the inferolateral trunk (ILT)-posteromedial branch. Based on the segmental concept, the case was diagnosed with segment 7 (horizontal intracavernous portion until ICA branches off the ILT) agenesis, which may have resulted in secondary regression of the ICA proximal to segment 7. According to the ICA agenesis classification, this was of type F because the case showed collateral flow to the distal ICA via transcranial anastomoses from the AMA without carotid rete-like collaterals. Conclusion: These findings suggest that the carotid rete-like collaterals did not form because the AMA was first developed during embryonic development.

Prenatal Ultrasound Diagnosis of Unilateral Pulmonary Agenesis.

Pulmonary agenesis (PA) is a rare developmental malformation, with a frequency of approximately 1 in 10-15,000 pregnancies. Unilateral PA is often associated with other congenital anomalies, whereas bilateral PA is fatal. Prenatal diagnosis is rare and is diagnosed more frequently in the postnatal period than in the prenatal period. Is a challenge that may be difficult as it shares similar features with other more common pathologies. Ultrasound plays a crucial role in early diagnosis and management. Ultrasonographic findings for a correct prenatal diagnosis include mediastinum displacement with the absence of parenchymal or cystic tissue, decreased thoracic volume, an elevated diaphragm, cardiac axis deviation, and a hemithoracic cavity largely occupied by the heart. Cases of right PA have a worse prognosis compared to left PA, probably due to higher frequency of cardiac and great vessel abnormalities. A rare case of early prenatal ultrasound diagnosis of unilateral fetal PA, at 18 weeks of gestation, is reported.

Abnormal dental phenotypes in GAPO syndrome: A descriptive study with a new ANTXR1 variant & insights on teeth eruption.

Objective: GAPO syndrome is usually diagnosed clinically owing to its characteristic features of growth retardation, alopecia, pseudoanodontia, and ophthalmic anomalies. Pseudoanodontia describes the failure of eruption of the two sets of teeth in these patients. Thus, the abnormal dental phenotype is the emergence of a set or part of a set of dentitions. Purpose: This study reports the physical, oro-dental, and molecular findings of two new sibs with GAPO syndrome and provides a description of the dental phenotype of one of the patients reported before. Materials & Methods: The patients were subjected to full medical history taking and three generations-pedigree construction. They were phenotyped according to the elements of morphology: Standard terminology series. After parental consents were acquired, molecular analysis was carried out for the two sibs (Patient 1 & 2). Results: These included a new gene variant associated with erupted teeth in GAPO syndrome and new clinical features. A new classification for the terminologies of eruption disturbances was suggested. Conclusion: The study asserts the importance of oro-dental examination and follow-ups as dental updates may occur in these cases.

Successful pregnancy in a woman with Herlyn-Werner-Wunderlich syndrome: A case report and literature review.

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital condition characterized by renal agenesis, uterine didelphys, and obstructed hemivagina. This report presents the case of a 19-year-old woman who reported lower abdominal pain and offensive vaginal discharge. Imaging revealed a didelphys uterus, two vaginas, two cervixes, hematocolpos, and an absent right kidney. Surgical intervention involved draining the hematocolpos and excising the uterine septum. After surgery, the patient successfully conceived and had a full-term pregnancy, delivering via cesarean section without complications. This case highlights the importance of early diagnosis and surgical management in preventing complications such as endometriosis and infertility. Prompt recognition and treatment are crucial for preserving fertility in patients with HWW syndrome.

Practical Approach to Congenital Anomalies of the Kidneys: Focus on Anomalies With Insufficient or Abnormal Nephron Development: Renal Dysplasia, Renal Hypoplasia, and Renal Tubular Dysgenesis.

Congenital anomalies of the kidney and urinary tract (CAKUT) accounts for up to 30% of antenatal congenital anomalies and is the main cause of kidney failure in children worldwide. This review focuses on practical approaches to CAKUT, particularly those with insufficient or abnormal nephron development, such as renal dysplasia, renal hypoplasia, and renal tubular dysgenesis. The review provides insights into the histological features, pathogenesis, mechanisms, etiologies, antenatal and postnatal presentation, management, and prognosis of these anomalies. Differential diagnoses are discussed as several syndromes may include CAKUT as a phenotypic component and renal dysplasia may occur in some ciliopathies, tumor predisposition syndromes, and inborn errors of metabolism. Diagnosis and genetic counseling for CAKUT are challenging, due to the extensive variability in presentation, genetic and phenotypic heterogeneity, and difficulties to assess postnatal lung and renal function on prenatal imaging. The review highlights the importance of perinatal autopsy and pathological findings in surgical specimens to establish the diagnosis and prognosis of CAKUT. The indications and the type of genetic testing are discussed. The aim is to provide essential insights into the practical approaches, diagnostic processes, and genetic considerations offering valuable guidance for pediatric and perinatal pathologists.

A case study of transneovaginal oocyte retrieval after novel Lee's neovaginoplasty in Mayer-Rokitansky-Küster-Hauser syndrome.

OBJECTIVE: Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is a rare congenital disorder that results in vaginal agenesis. Lee's neovaginoplasty is a novel surgery for reconstructing the vagina. Transneovaginal oocyte retrieval completely changes the scope of fertility for patients with MRKH syndrome who have undergone neovaginal reconstruction. CASE REPORT: A 22-year-old female with type 1 MRKH syndrome underwent Lee's neovaginoplasty successfully. Four years later, she sought embryo cryopreservation consultation and underwent controlled ovarian hyperstimulation. Upon examination, her anti-Müllerian hormone level was 1.97 ng/ml and she had only eight antral follicles. The neovaginal length was 8 cm with elasticity and extensibility. Transneovaginal oocyte retrieval was performed under ultrasound guidance, and seven oocytes were retrieved. The follicle-to-oocyte index was 87.5%. CONCLUSION: Lee's neovaginoplasty is a promising surgery for reconstructing the vagina in MRKH syndrome, and this case shows that transneovaginal oocyte retrieval can be successfully performed after vaginal reconstruction. This technique provides a minimally invasive option for retrieving oocytes in patients of MRKH syndrome.

Evaluating the efficiency of mandibular molar protraction using Herbst appliances versus temporary anchorage devices: a retrospective case-controlled study.

BACKGROUND: Mandibular second premolar agenesis is a common problem in orthodontics and is often treated in conjunction with maxillary counterbalancing extractions. However, in cases without maxillary crowding or dental protrusion, space closure may pose challenges leading to compromised occlusal results or patient profile. Multiple techniques have been described to treat these patients; nevertheless, there is a paucity of data comparing effectiveness of space closure utilizing various anchorage techniques. The goal of this study is to assess the effectiveness of the Herbst device during mandibular molar protraction and compare it to the use of temporary anchorage device (TADs) in patients with mandibular second premolar agenesis. MATERIALS AND METHODS: This retrospective study included 33 patients with mandibular premolar agenesis treated without maxillary extractions. Of these patients, 21 were treated with protraction Herbst devices and 12 with TADs. Changes in molar and incisor positions, skeletal base positions and occlusal plane angulations were assessed on pretreatment (T0) and post-treatment (T1) lateral cephalograms. Scans/photographs at T0 and T1 were used to evaluate canine relationship changes representing anchorage control. Space closure and breakage/failure rates were also compared. Data was analyzed with paired and unpaired t-tests at the significance level of 0.05. RESULTS: Within the Herbst group, changes in mandibular central incisor uprighting and mandibular molar crown angulations were statistically significant. However, no significant differences were noted between the Herbst and TAD groups. Protraction rates as well as overall treatment times were comparable (0.77 mm/month vs. 0.55 mm/month and 3.02 years vs. 2.67 years, respectively). Canine relationships were maintained or improved toward a class I in 82.85% of the Herbst sample, compared to in 66.7% of the TAD sample. Emergency visits occurred in 80.1% of the Herbst group, with cementation failures or appliance breakages as the most common reasons. CONCLUSION: The Herbst device could be a viable modality in cases with missing mandibular premolars where maximum anterior anchorage is desired, or if patients/parents are resistant to TADs. Furthermore, they could be beneficial in skeletal class II patients with mandibular deficiency who also need molar protraction. However, the increased incidence of emergency visits must be considered when treatment is planned.

Evaluation of the scrotal thermal environment and the testicular sizes in prepubertal hemiscrotal agenesis without cryptorchidism.

Introduction: Hemiscrotal agenesis is a rare scrotal developmental disorder. Orchiopexy on the opposite side of the scrotum with rugae or scrotoplasty combined with orchiopexy is usually performed as a surgical treatment for hemiscrotal agenesis with cryptorchidism. Till date, there are only eight published case studies of hemiscrotal agenesis. Case presentation: A 6-year-old boy, who had been previously treated for infantile hemangiomas, was referred by a pediatrician to our hospital for the follow-up of hemiscrotal agenesis without cryptorchidism. Thermography demonstrated that the temperature of the right scrotal skin with no rugae was higher than that of the left scrotal skin with rugae. The patient's parent declined scrotoplasty because the hemiscrotal agenesis was to be followed up without scrotoplasty and scrotal ultrasonography revealed no abnormal findings in both testes. Conclusion: High-temperature environment may not impair the testicular growth in prepubertal hemiscrotal agenesis without cryptorchidism.