Genital Anomalies Research Articles (Page 1)

The zinc finger homeobox 3 (ZFHX3) gene encodes a transcription factor involved in neurodevelopment and organogenesis. ZFHX3 haploinsufficiency is linked to intellectual disability, epilepsy and neurodevelopmental defects, but its potential involvement in neural tube defects (NTDs) and related structural anomalies is unknown. We report a female proband with a de novo heterozygous ZFHX3 variant (NM_006885.3: c.5876 A>C, p.(Gln1959Pro), identified via exome sequencing. She presented with spina bifida occulta, segmental spinal dysgenesis, bilateral clubfeet, bicuspid aortic valve and genital anomaly. This report suggests an expanded phenotypic spectrum of ZFHX3-associated disorders. Given the known interactions of ZFHX3 with Wnt/β-catenin, mTOR and Hippo signalling pathways, we hypothesise that disruptions in these networks could contribute to NTDs and skeletal defects. No functional studies were performed, so causality cannot be established. Further research and reports of similar phenotypes in ZFHX3 variants are needed to confirm its role in NTDs and other congenital structural anomalies.

Disclosure: M. Kashat: None. L. De Mattei: None. D. Shelden: None.Introduction: Septo-optic dysplasia (SOD) is a rare, congenital brain disorder characterized by a triad of optic nerve hypoplasia, midline brain malformation, and hypothalamic-pituitary axis (HPA) dysfunction, including central diabetes insipidus (CDI). This report describes a patient with CDI, optic nerve hypoplasia, attention-deficit/hyperactivity disorder (ADHD), and other neurological manifestations secondary to SOD in the absence of clinical manifestations of panhypopituitarism. Clinical Case: A 20-year-old female with a history of SOD with CDI presented with polyuria and polydipsia. She was diagnosed with SOD at the age of 2 months due to maternal cytomegalovirus (CMV) transmission. She was previously on Synthroid, hydrocortisone, and growth hormone injections for presumed hypopituitarism. She is only on desmopressin nasal spray. She has regular menses with no symptoms of adrenal insufficiency or hypothyroidism. Water deprivation test showed a copeptin proAVP <2.8, UNa: 37, serum Osm: 314, urine Osm: 149, Na: 150, and Cl:118 consistent with CDI. Thyroid function demonstrated a TSH of 1.47 and free T4 of 0.9 without therapy. FSH, LH, ACTH, and IGF-1 are pending with no hypoglycemia and electrolyte abnormalities. Brain MRI showed an absent septum pellucidum and posterior pituitary bright spot with normal pituitary gland. She was initiated on subcutaneous desmopressin per preference. It is atypical to appreciate a normal pituitary gland in SOD on imaging. Conclusion: Dysfunction of HPA is a classic finding of SOD. Panhypopituitarism is seen in 62% to 80% of SOD cases that can be seen before the age of 2 with optic nerve hypoplasia, absent septic pellucidum and corpus callosum, and hypoplastic or absent pituitary stalk. Growth hormone deficiency, central hypothyroidism, and secondary and tertiary adrenal insufficiencies are common pituitary dysfunctions associated with the condition. Severe cases of panhypopituitarism present with hypoglycemia, genital anomalies, and failure to thrive. In the rarest cases, CDI is observed. Experts recommend screening HPA dysfunction every 4 to 6 months within the first 2 years of life, and every 6 to 12 months between 2 to 8 years, and yearly throughout puberty. There are no formal guidelines on HPA evaluation in SOD after puberty. This case exhibits a variation of SOD which features optic nerve hypoplasia, absent septum pellucidum, and CDI with clinically intact HPA and a normal pituitary gland on imaging.Presentation: Saturday, July 12, 2025

ABSTRACTBackgroundPallister‐Hall syndrome (PHS) is an extremely rare genetic disorder. It presents as a polymalformative syndrome affecting craniofacial structures, the central nervous system, limbs, various internal organs, and the endocrine system. It is considered a ciliopathy, as it is associated with loss‐of‐function variants in the GLI3 gene, a transcription factor essential for primary cilium signaling. The syndrome shows marked clinical heterogeneity depending on the type of genetic variant, which makes diagnosis challenging. It is usually suspected at an early age when a hypothalamic hamartoma is associated with polydactyly. Endocrine manifestations are often linked to the hamartoma, further complicating diagnosis.Case PresentationA 23‐year‐old Colombian patient presented with a history of hypothalamic hamartoma, gelastic seizures, postaxial polydactyly of hands and feet, and craniofacial dysmorphisms. Physical examination revealed dolichocephaly, bilateral epicanthus, broad nasal bridge, short and broad neck, mild cervical kyphosis, mild scoliosis, micrognathia, bilateral ulnar deviation of the fourth and fifth fingers, and overlapping toes on both feet. No genital anomalies were found. Neuropsychological evaluation reported a borderline intellectual quotient of 78. Whole‐exome sequencing identified a de novo heterozygous pathogenic variant in GLI3 (c.2151del; p.(Gln71HisfsTer16)), confirmed by Sanger sequencing.ConclusionsWe report the first case described in Colombia of a previously unreported truncating genetic variant. We performed a clinical–molecular correlation in a 23‐year‐old adult whose diagnosis of PHS was delayed until adulthood, years after the initial identification of a hypothalamic hamartoma, refractory gelastic seizures, polydactyly, and mild cognitive impairment. This case broadens the clinical spectrum regarding the viability of patients with PHS into adulthood, showing that it is not restricted to the severe neonatal or infantile presentations classically described.

MINPP1-related pontocerebellar hypoplasia (PCH) is a rare neurodevelopmental disorder characterized by microcephaly, profound developmental delay, and a distinct neuroimaging pattern. To date, only 21 patients from 13 unrelated families have been reported. Herein, we describe five patients from four Egyptian families with homozygous MINPP1 variants. All patients presented with global developmental delay, microcephaly, hypotonia, nystagmus, severe motor impairment, seizures, and intellectual disability. Interestingly, all patients exhibited dysmorphic facies, characterized by a high forehead, long philtrum, smooth philtrum, thin upper lip vermilion, broad chin, and low-set ears. Additional variable findings were optic atrophy, strabismus, feeding difficulties, and genital anomalies. Brain MRI showed cerebellar and pontine hypoplasia, thin corpus callosum, cortical atrophic changes, white matter signal, enlarged ventricles, and striking basal ganglia hypoplasia. Exome sequencing identified four MINPP1 variants, including three novel variants (p.Trp68Ter, p.Trp141Ter, and p.Val434_Gln435dup). All variants are localized within functionally critical domains of the protein and were either absent or extremely rare in public databases. Our study increases the number of affected individuals with MINPP1 variants and reinforces the clinical and brain imaging features of the disorder. In addition, the specific facial gestalt noted in our patients along with the basal ganglia changes appear characteristic and might point to the diagnosis of this type of PCH.

Endometriosis in patients with female genital tract congenital anomalies: A retrospective cohort study.

Surgical management strategies for female genital anomalies presenting with primary amenorrhea and/or cyclic pelvic pain

Fertility and obstetrical outcomes in women born with anorectal malformations: A prospective cross-sectional study.

CHARGE syndrome is a rare, complex congenital disorder caused predominantly by mutations in the CHD7 gene, characterized by a multisystem involvement including Coloboma, Heart defects, Atresia of the choanae, Retardation of growth and development, genital anomalies, and ear abnormalities. Each patient presents a unique spectrum of anomalies, posing significant challenges for perioperative management. This case report presents the perioperative anaesthetic management of a 5 year old male child with genetically confirmed CHARGE syndrome (CHD7 mutation: c.6213delA) scheduled for full mouth rehabilitation under general anaesthesia. The child presented with multiple classical features including bilateral coloboma, atrial septal defect (ASD), bilateral sensorineural hearing loss, retrognathia, and global developmental delay. Given the known association with choanal atresia, nasal patency was assessed preoperatively. Airway examination revealed retrognathia and high arched palate, raising concerns for difficult intubation. A multidisciplinary strategy was planned. Inhalational induction with sevoflurane was used to preserve spontaneous ventilation, followed by intravenous propofol and atracurium to ensure smooth intubation while maintaining hemodynamic stability. Anticipating airway difficulty, nasal intubation was performed using a C-MAC video laryngoscope. Intraoperative management emphasized normothermia and normocapnia to ensure cerebral and hemodynamic stability. The surgery proceeded uneventfully, and the child recovered without complications. This case highlights the importance of a tailored, pathophysiology-driven anaesthetic plan and interdepartmental coordination in managing syndromic children. Key takeaways include early identification of airway and systemic risks, detailed preoperative planning, and the use of advanced airway tools to ensure safe outcomes in pediatric patients with complex congenital anomalies. Keywords: CHARGE syndrome; congenital heart defects; CHD7 mutation; general anesthesia; difficult airway

The management of cryptorchidism in Brazil: An ecological overview.

Unilateral renal agenesis (URA) is a urinary tract congenital anomaly characterized by a congenital absence or early developmental arrest of only one kidney. In the presence of a normal contralateral kidney, URA is typically considered a condition of minimal clinical significance as the solitary kidney often undergoes hypertrophy and can sufficiently perform the needed renal function after birth. However, postnatal studies suggest that URA has a significant association with other urinary and extra-urinary anomalies and may have implications for long-term health. This descriptive review focuses on the perinatal aspects of URA, emphasizing the main ultrasound findings to establish the prenatal diagnosis and to guide perinatal management. The pediatric implications of this diagnosis, particularly the high prevalence of long-term complications including hypertension, proteinuria, and a decreased glomerular filtration rate, are also briefly reviewed. URA is consistently associated with other ipsilateral urogenital anomalies. In females, there is a significant association with uterine anomalies that has significant implications for subsequent reproductive function. In males, the prevalence of both urinary and genital anomalies is also increased, which may also have implications for future fertility. Prenatal ultrasound offers the possibility of early diagnosis and parental counseling, which may result in timely intervention to reduce contralateral renal damage, prevent severe urogenital manifestations and co-morbidities, and improve fertility and the quality of life.

Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is increasingly common in society, characterized by limitations in social communication and some repetitive behaviors. Many genetic factors such as genetic syndromes and single gene mutations and many environmental factors play a role in the etiology of ASD. Many genetic syndromes accompanying ASD have been reported. Aarskog-Scott Syndrome is a rare genetic disorder characterized by facial, digital, and genital anomalies, including a broad upper lip, anteverted nostrils, ptosis, hypertelorism, shawl scrotum, short stature, flat feet, and genu recurvatum. Cases with learning difficulties, hyperactivity, or cognitive retardation have been reported to date with Aarskog Scott syndrome. However, to our knowledge, one case report of ASD and Aarskog Scott syndrome has been reported. In this report, we will present a case with Aarskog Scott syndrome and Autism Spectrum Disorder.

Introduction: Fetal magnetic resonance imaging (MRI) is commonly used as an adjunct to prenatal ultrasound (US) in identifying genitourinary abnormalities, but there is no data regarding its accuracy when identifying genital anomalies. To address this gap, this study reviewed our experience with identification of genital anomalies on fetal MRI and the correlation between fetal MRI findings and postnatal diagnosis. Case Series: An Institutional Review Board (IRB) approved retrospective review was conducted for patients with genital abnormalities noted on fetal MRI. Patients were excluded if the anomaly required no perinatal management steps, such as an isolated foreshortened phallus or due to an unrelated anomaly such as bladder exstrophy. The data collected included patient and maternal demographics, gravida status, prenatal ultrasound and fetal MRI findings, postnatal diagnosis, early postnatal course, and subsequent management. In this series of five patients with clinically significant genital findings on fetal MRI, two patients’ fetal MRI findings were confirmed by postnatal physical exam and/or imaging. Among the two patients with hypospadias in this series, only one was correctly diagnosed on fetal MRI and received postnatal follow-up by urology. Ambiguous genitalia were read in three patients’ fetal MRI with one of those confirmed postnatally. Two of these three patients underwent early rule-out congenital adrenal hyperplasia based on fetal MRI. Conclusion: A low percentage of patients with genital abnormalities received accurate prenatal diagnosis by fetal MRI. Fetal MRI may not provide an accurate diagnosis for prenatally detected genital findings but may serve as an additional data point to inform early postnatal diagnostics and level of care for patients with syndromic findings, such as ambiguous genitalia associated with congenital adrenal hyperplasia.

The primary aim of the study was to compare the incidence of congenital uterine anomalies in polycystic ovarian syndrome (PCOS) patients with the control group. This was a retrospective cohort study conducted at a tertiary center between January 2018 and January 2024. The study cohort included 297 patients, comprising 99 women with PCOS (PCOS group, 33.3%) and 198 healthy women whose partners had male factor infertility (control group, 66.7%). The uterine cavity was evaluated using hysterosalpingography (HSG) images according to the European Society of Human Reproduction and Embryology (ESHRE) and the European Society for Gynaecological Endoscopy (ESGE) consensus on the classification of female genital tract congenital anomalies and the American Society for Reproductive Medicine (ASRM) Müllerian anomalies classification guidelines. Demographic characteristics, physical examination findings, laboratory results, and HSG findings of the groups were compared. Analyses were performed with SPSS version 26.0. Variables that did not show a normal distribution were analyzed using the Mann-Whitney U-test. The chi-squared test and Fisher exact test were used to analyze categorical data. An inter-rater reliability analysis (Cohen's kappa) was performed for HSG findings. The results were reported with a 95% confidence interval (CI). The p-value of <0.05 was considered statistically significant. Of the whole study cohort, 7.7% had congenital uterine anomalies (CUAs) according to the ASRM criteria and 4.7% had CUAs according to the ESHRE/ESGE classification. CUAs were 5.7 times higher in the PCOS group than in the control group according to the ASRM criteria and 5.5 times higher in the PCOS group than the control group according to the ESHRE/ESGE classification system (17.2% vs. 3%, p < 0.0001; 10.1% vs. 2%, p = 0.003, respectively). Partial septate uterus (ASRM and ESHRE/ESGE classifications) was the most frequently detected CUA in the PCOS group (9.1% vs. 1.5%, p = 0.003). According to the ASRM classification, the partial septate uterus was followed by the arcuate uterus. It was 4.7 times more common in the PCOS group (7.1% vs. 1.5%, p = 0.01). We found that the frequency of CUA was higher among PCOS patients. Prospective studies are needed to examine anti-Müllerian hormone (AMH), serum sex steroids, and pregnancy complications in more detail to clarify pathophysiology and clinical implications.

Anorectal malformations (ARM) consist of a range of anomalies that occur in approximately 3.5 in 10,000 live births. Though variable, about half of these patients present with an associated genitourinary abnormality. Considering this high prevalence, this study aimed to assess the specific occurrence of urogenital anomalies in patients with anorectal malformations. An institution-based observational study was conducted on 156 patients with anorectal malformation, all of whom were screened for urogenital anomalies. Data were collected using a pre-structured questionnaire and analyzed using SPSS (IBM) Version 26 software. Relevant statistical analysis was performed, and the results are presented in tables. Of the 156 patients with ARM studied for associated urogenital anomalies, 91 (58.3%) were females with a male-to-female ratio of 0.7:1 and a median age of 12 months (IQR = 1-24). Forty-six of them (29.5%) had urogenital anomalies, of whom 22 (14.1%) had isolated urologic anomalies and 20 (12.8%) had both urologic and genital anomalies. Renal anomalies were found in 34 (21.8%) patients. The association between gender and genital anomalies was significant, χ 2 (1), N = 156 = 4.09, p = 0.04. The type of ARM has a highly significant association with genital anomalies χ 2 (11), N = 156 = 21.95, p = 0.009. Males were less likely to exhibit urogenital anomalies [OR = 0.386, 95% CI (0.15-0.995), p = 0.048]. Children with complex ARM have 3.4 times genital and 2.3 times urinary anomalies than less complex forms. In summary, urogenital anomalies are the most common anomalies occurring in association with anorectal malformation. Genital anomalies have an association with gender with more occurrence in females. Children with complex anorectal malformations have a higher chance of urogenital anomalies.

Purpose 46,XX disorders of sex development (DSD) involve atypical genitalia accompanied by a normal female karyotype. This study was performed to investigate the clinical characteristics and long-term outcomes of patients with 46,XX DSD.Methods The study included 34 patients with 46,XX DSD who presented with ambiguous genitalia or delayed puberty. Patients with congenital adrenal hyperplasia were excluded. Clinical phenotypes and overall outcomes were analyzed retrospectively.Results Age at presentation ranged from birth to 40 years (median, 0.6 years), and the follow-up period ranged from 0.3 to 29.7 years (median, 8.8 years). Twenty patients were assigned female (58.8%). Etiologies included disorders of gonadal development (n=22), exogenous androgen exposure during pregnancy (n=5), association with syndromic disorders or genital anomalies (n=2), and unclassified causes (n=5). Ovotestis was the most frequent gonadal pathology (41.7%). Müllerian duct remnants were usually underdeveloped (52.9%) or absent (23.5%). Spontaneous puberty occurred in 17 of the 21 patients of pubertal age, while 9 patients required sex hormone replacement therapy. Gonadal complications were observed in 4 patients (gonadal tumors [n=3], and spontaneous gonadal rupture [n=1]), and gender dysphoria occurred in 1 patient who was assigned male.Conclusions This study described the wide phenotypic spectrum and pubertal outcome of patients with 46,XX DSD. Long-term multidisciplinary monitoring for pubertal development, fertility, gender identity, and gonadal complications is recommended.

Fall in total testosterone (tT) levels in Klinefelter syndrome (KS) may occur at different times of sexual development, although overt hypogonadism generally occurs after puberty. Nevertheless, it is still debated whether patients with KS are exposed to normal androgen levels during fetal life. Anogenital distance (AGD) is an anthropometric measure reflecting androgenization during the fetal period. A shorter AGD in men was associated with infertility, genital anomalies, and testicular cancer. Although other androgen-dependent anthropometric measures such as testicular volume and stretched penile length have been investigated in KS, this is to our knowledge the first study examining AGD in this population. To investigate the role of AGD as an anthropometric marker of androgenization in adults with KS. We measured AGD, testicular volume, stretched penile length in 50 patients with KS and in 101 Caucasian men with normal total testosterone (tT) levels (>12nmol/L), using a digital caliper for AGD, an orchidometer for testicular volume and a common meter for stretched penile length. AGD was then correlated with anthropometric features and hormone levels (tT, LH, FSH). AGD was similar between patients with KS and controls (p=0.843), with mean values of 6.8±1.6cm (95% CI 6.4 to 7.3) and 6.9±1.4cm (95% CI 6.6 to 7.2), respectively. In both groups, AGD did not correlate with testicular volume, stretched penile length, arm span, or tT levels. Interestingly, AGD significantly correlated with waist circumference (p=0.004), body mass index (p<0.001) in patients with KS, while no relevant correlation was found among controls. AGD is not decreased in KS despite lower testosterone levels. This finding suggests that patients with KS are exposed to sufficient androgenization during fetal life.

BackgroundBardet–Biedl syndrome (BBS) is a rare nonmotile ciliopathy characterized by retinal dystrophy, polydactyly, obesity, genital anomalies, renal dysfunction, and learning difficulties. The objectives were to describe the retinal, oral, and metabolic characteristics relevant to adults with BBS as well as the prevalence of genetic variants.MethodsA cross-sectional study of 30 adults with BBS (15 males, 15 females, mean age 39.8 ± 13.6 years) was recruited from a single centre for rare disorders in Norway. Participants attended a one day hospital visit including medical (blood pressure, body mass index), ophthalmological and oral examinations. Blood samples were collected and genetic analyses were performed.ResultsAge at diagnosis varied from one year to 30 years. The incidence of overweight/obesity, hypertension, kidney disease, and diabetes mellitus was 82%, 67%, 27%, and 23%, respectively. All had retinitis pigmentosa. Prior to the study, 14 participants (47%) had confirmed extinguished electroretinography. Eleven participants were examined with electroretinography during the study period, and all had extinguished electroretinography. 50% perceived light, 23% saw hand motion, and one participant did not perceive light. Oral anomalies were identified in 77% of the participants, including abnormal palates (58%), crowded teeth (50%), and small teeth (60%). A genetic cause was identified in all participants, most commonly in BBS1 (n = 11) and BBS10 (n = 9). Other variants were found in BBS5, BBS7, BBS9, and MKKS. In addition to exon-located variants, a novel deep intronic variant causing mis-splicing was identified in BBS7.ConclusionsA multidisciplinary examination is important for proper management of BBS. The genotype and phenotype of this sample were heterogeneous, including kidney failure, genital anomalies and obesity. Genome sequencing increased the likelihood of identifying the genetic cause. In BBS populations, the patients will benefit from testing or reanalysis, preferably with genome sequencing, including searching for deep intronic variants.

The thousand and one kinase (TAOK) proteins are a group of serine/threonine-protein kinases involved in signaling pathways, cytoskeleton regulation, and neuronal development. TAOK1 variants are associated with a neurodevelopmental disorder (NDD) characterized by distinctive facial features, hypotonia, and feeding difficulties. TAOK2 variants have been reported to be associated with autism and early-onset obesity. However, a distinct TAOK2-NDD has not yet been delineated. We retrospectively studied the clinical and genetic data of individuals recruited from several centers with TAOK1 and TAOK2 variants that were detected through exome and genome sequencing. We report 50 individuals with TAOK1 variants with associated phenotypes, including neurodevelopmental abnormalities (100%), macrocephaly (83%), and hypotonia (58%). We report male genital anomalies and hypoglycemia as novel phenotypes. Thirty-seven unique TAOK1 variants were identified. Most of the missense variants clustered in the protein kinase domain at residues that are intolerant to missense variation. We report 10 individuals with TAOK2 variants with associated phenotypes, including neurodevelopmental abnormalities (100%), macrocephaly (75%), autism (75%), and obesity (70%). We describe the largest cohort of TAOK1-NDD to date, to our knowledge, expanding its phenotype and genotype spectrum with 30 novel variants. We delineated the phenotype of a novel TAOK2-NDD associated with neurodevelopmental abnormalities, autism, macrocephaly, and obesity.

This case report presents a rare occurrence of 49,XXXXY syndrome in a 14-month-old male, the first documented case from Nepal, highlighting several distinctive clinical features. The patient had a height and weight below the third centile at birth and exhibited dysmorphic facial features, including a flat facial profile, flat nasal bridge, broad nose, low-set ears, and clinodactyly, along with genital anomalies like micropenis and small testes. Neurologically, he demonstrated generalized hypotonia and global developmental delay. Atrial septal defect (ASD), left to right shunt, and mild tricuspid regurgitation were identified via echocardiography, adding to the complexity of the clinical presentation. Cytogenetic analysis of peripheral blood confirmed the 49,XXXXY karyotype in all 30 cells analyzed. The child also presented with a seizure episode at 11 months, a relatively uncommon manifestation in 49,XXXXY syndrome, which required symptomatic management. Neuroimaging revealed multiple abnormalities: A contrast-enhanced computed tomography scan of the head showed mild hydrocephalus, while magnetic resonance imaging (MRI) findings included mild restricted diffusion in the bilateral frontal and parietal subcortical white matter, white matter volume loss around the lateral ventricles, and previously unreported anomalies, such as aplasia of the frontal and sphenoid paranasal sinuses and aplasia of the left transverse and sigmoid dural venous sinuses. These findings emphasize the need to recognize 49,XXXXY syndrome as a separate clinical entity from Klinefelter syndrome due to its unique features and severe cognitive and physical impairments. This case underscores the importance of comprehensive genetic evaluation and individualized, multidisciplinary management strategies for patients with rare chromosomal abnormalities. Further research is warranted to better understand the syndrome's unique clinical presentations and develop optimal therapeutic interventions.

BACKGROUND The prevalence of female genital tract anomalies is around 4-6.9%. Vaginal agenesis is a form of Müllerian agenesis and defined as the congenital absence of the vagina. It affects 1 in 5000 women. During normal fetal development, the Müllerian ducts combine to form the uterus, fallopian tubes, and most of the vagina. However, in cases of vaginal agenesis, the Müllerian ducts fail to fuse to form the upper part of the vagina. This report presents the case of an 11-year-old girl with vaginal agenesis evaluated using ultrasound. CASE REPORT An 11-year-old girl, Tanner stage II, presented with cyclic abdominal pain for 3 months and no menarche. After a hymenectomy for imperforate hymen in January 2023 failed to relieve symptoms, she was referred to our hospital. Physical examination showed a tender lower abdomen with no genital abnormalities. Transabdominal ultrasound was inconclusive for differentiating between a transverse vaginal septum and cervical agenesis with hematometra, and magnetic resonance imaging suggested hematometrocolpos due to a transverse vaginal septum. Intraoperatively, distal vaginal agenesis was identified, and vaginoplasty was performed, evacuating 200 mL of thick blood. The cervix and uterus were normal, and postoperative management included gradual vaginal dilation with a soft mold. This case highlights the diagnostic challenges of distal vaginal agenesis, particularly in patients with a history of imperforate hymen. CONCLUSIONS This report emphasizes the importance of accurate imaging and clinical evaluation in diagnosing reproductive anomalies such as distal vaginal agenesis. Developing techniques to enhance the specificity of imaging modalities is crucial for distinguishing vaginal agenesis from a transverse vaginal septum, ensuring appropriate surgical management and better patient outcomes.