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OBJECTIVES: To generate normative data and validate the recently developed, gender-neutral, External Genitalia Score (EGS) in Indian preterm and term neonates and children up to 2 years of age with normal and atypical genitalia. METHODS: This observational study included 1,040 neonates born between 28 and 42 weeks of gestation and 152 children between 1 and 24 months of age. In addition, 50 children with disorders of sex development (DSD) were also enrolled in the study. The Prader stage/external masculinization score (EMS) (as applicable), anogenital ratio (AGR) and EGS were assessed for all neonates and children with typical and atypical genitalia. RESULTS: Median EGS values in newborn males with typical genitalia were 9.5 at 28-31 weeks, 10.5 at 32-33 weeks, 11 at 34 weeks and 11.5 in males at 35-42 weeks of gestation. For all females with typical genitalia, the EGS was 0. EMS and EGS showed a positive correlation in males with typical genitalia (r=0.421, p=0.000**) and all children with DSD (r=0.857, p=0.000**). Mean AGR in males and females with typical genitalia and those with DSD were 0.52±0.07, 0.31±0.05 and 0.47±0.13, respectively. EGS correlated with AGR in all males with typical genitalia (r=0.107, p=0.008**), and in all children with DSD (r=0.473, p=0.001**). CONCLUSIONS: The EGS enables accurate, gender-neutral and comprehensive assessment of external genitalia in Indian neonates and children with typical and atypical genitalia/DSD. Evaluation for DSD is recommended in any child with EGS greater than 0 and ≤10th percentile for gestation or age (10.5 in a term neonate).
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Isolated elephantiasis of the vulva refers to a gigantic swelling of the vulva without concomitant swelling of the lower limbs. It is a rarely reported entity and its occurrence during pregnancy has been reported only once. We report a case of an isolated vulval elephantiasis during pregnancy and we discuss the possible etiologies and management issues. Our patient had a successful vaginal delivery followed by a satisfactory genital reconstruction at eight months postpartum and no recurrence thereafter.
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Fifteen male dogs with squamous cell carcinoma of the external genitalia were admitted for further investigation and surgical management between 1994 and 2020. The dogs belonged to various breeds. Thirteen dogs were intact and two were castrated with a median age of 8 years and a median weight of 28 kg. Seven dogs were white-coated and eight nonwhite coated. Scrotal ablation and orchiectomy were performed in four dogs, partial penile amputation in two, partial penile amputation plus partial preputial ablation in one, penile amputation, and scrotal urethrostomy in seven, and local preputial excision in one dog. Postoperative complications included hemorrhage in 10 dogs, bruising at the urethrostomy site in seven, and urethrostomy dehiscence in one dog. Tumor recurrence was recorded in six dogs. Dogs with poorly differentiated tumors that had tumor recurrence had shorter survival and worse prognosis compared to those with well and moderately differentiated tumors. The mean survival time was 48.132 months. After a median follow-up of 23 months (range: 8 to 72 months), eight dogs were alive, five were euthanized and two dogs died from unrelated causes. Surgical excision seems to be a treatment option for dogs with squamous cell carcinoma of the external genitalia.
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Carcinoma de Células Escamosas , Enfermedades de los Perros , Animales , Perros , Masculino , Enfermedades de los Perros/cirugía , Carcinoma de Células Escamosas/veterinaria , Carcinoma de Células Escamosas/cirugía , Neoplasias de los Genitales Masculinos/veterinaria , Neoplasias de los Genitales Masculinos/cirugía , Orquiectomía/veterinaria , Recurrencia Local de Neoplasia/veterinaria , Complicaciones Posoperatorias/veterinaria , Estudios RetrospectivosRESUMEN
We present a case report of a 55-year-old male patient with congenital adrenal hyperplasia (CAH) and a large neoplastic mass in the abdomen. The patient presented with an abdominal mass and discomfort, along with a bilateral empty scrotum since birth. A diagnostic workup revealed the mass to be a uterine leiomyoma associated with CAH, a simple virilizing type. Treatment involved an exploratory laparotomy and excision of the mass, including the removal of the entire uterus. Complete removal of the mass and uterus was ensured. The patient's response to treatment was satisfactory. This case highlights how pre-operative and post-operative diagnoses can vary, along with the importance of early diagnosis of CAH and disorders of sexual differentiation (DSD), emphasizing the significance of unusual presentations and resultant complications, as they might go unnoticed. CAH in XX females may have unusual presentations, such as short stature and a male phenotype (Prader 5). The patient exhibited a normal pattern of male sexual function. This condition might go unnoticed, resulting in leiomyoma, adrenal tumors, prostate tumors if prostate tissue is present, and so on. Healthcare providers must watch out for such rare presentations.
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Worldwide, squamous cell carcinoma (SCC) incidence is rising. The literature debates the human papillomavirus (HPV)'s role in cutaneous SCC development. We examined HPV histopathology in SCC samples in this study. Retrospective study at tertiary referral skin center in 2020. Histopathological features of HPV, including koilocytosis, hyperkeratosis, acanthosis, hypergranulosis, parakeratosis, solar elastosis, papillomatosis, and tumor grade, were examined in SCC specimens. Two dermatopathologists independently reevaluated all samples. We examined 331 SCC cases (male:female ratio = 3.9:1). The mean age was 68.1, with 15.1 standard deviation. Lesions were most common on the face (40.5%), scalp (22.7%), and extremities (20.8%). Koilocytes were found in 50 (15.1%) lesions. Nail (38.1%, p=0.007), oral cavity (36.8%, p=0.014), and genitalia (60.0%, p=0.026) lesions had higher koilocytosis rates. SCCs were found in 6.6% of specimens, but in situ tumors had the highest koilocytosis (64.7%), significantly higher than other grades (p<0.001). SCC pathology often shows HPV and specific koilocyte histopathology. Well-differentiated SCC has a stronger association with nail, oral, and genital lesions.
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Genital burns are unique and complex injuries that impact patients physically and emotionally. This study investigates the specific impact of genital burns on psychosocial and physical outcomes. A retrospective cohort study was conducted using the TriNetX database, encompassing over 117 million patients from U.S. healthcare institutions. Patients with genital burns were identified and categorized into sub-cohorts based on TBSA and burn degree. Propensity score matching and cohort balancing were performed based on age, gender, race, and ethnicity. Outcomes were analyzed both short-term (1 month) and long-term (5 years), focusing on psychiatric and physical aspects. This study identified 3,496 genital burn patients over a 15-year period. Analyses revealed that genital burns significantly increased short-term risk of death (RR: 2.8), anxiety (RR: 2.656), hospitalization (RR: 2.167), and any anxiety, PTSD, or depression (RR: 2.363), and long-term risk of death (RR: 1.658) and pruritus (RR: 1.58) (all p<0.05). Interestingly, genital burn patients showed a lower risk of chronic joint pain compared to other burn injuries (RR: 0.815) (p<0.05). These results occurred independently of the extent of TBSA. Genital burns have a distinctive impact on patients, leading to higher rates of certain psychiatric morbidities and physical complications. This study highlights the need for tailored care and consideration of the unique challenges faced by patients with genital burns, both in the immediate aftermath and in the long term. Understanding the specific impacts of genital burns is vital for healthcare practitioners to develop care strategies and better support for patients recovering from such injuries.
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There have been no reports comparing neonatal external genitalia of 5α-reductase deficiency (5αRD) with those of other 46,XY differences of sex differentiation (DSD). This study enrolled 31 Japanese cases of 46,XY DSD whose external genitalia was examined during the neonatal period; four were diagnosed as 5αRD and 15 were defined as non-5αRD by genetic analysis of SRD5A2 or urinary steroid metabolites. We compared the following characteristics between 5αRD and non-5αRD groups, adjusting the severity of undermasculinization of the external genitalia: stretched penile length (SPL), glans width, location of the external urethral opening, and proportion of undescended testis. The external genitalia of all the 5αRD cases were Quigley classification grade 2 or 3. We compared the phenotypes between the four 5αRD cases and 11 non-5αRD cases with grade 2 or 3. The median (range) of SPL in the 5αRD group (14 mm [11-16]) was significantly lower than that in the non-5αRD group (22 mm [15-29]) (p = 0.003). An SPL cut-off value of <15 mm yielded a sensitivity of 50% (95% confidence interval [CI]; 7-93%) and specificity of 100% (95% CI, 72-100%) for discriminating between the groups. The median glans width, location of the external urethral opening, and proportion of undescended testis were not significantly different between the groups. The SPL of 5αRD in Quigley classification grade 2 or 3 was significantly shorter than that of other 46,XY DSDs with the equivalent grade.
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This case report focuses on a rare presentation of Epstein-Barr virus as genital ulcers in a 14-year-old girl with no sexual activity history. Despite initial misdiagnosis and failed acyclovir treatment, investigations ruled out sexually transmitted causes but revealed elevated Epstein-Barr virus antibodies. Subsequent treatment with a 14-day prednisone course led to significant improvement. This case emphasizes the importance of considering nonsexual etiologies for genital ulcers to prevent delayed or inappropriate treatment and highlights the need for broader education on such atypical presentations.
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Congenital adrenal hyperplasia (CAH) is an autosomal recessive genetic condition caused by various enzyme deficiencies that result in disruptions of pathways of adrenal steroidogenesis. 21-hydroxylase deficiency is the most common form of CAH and has a variable phenotype which ranges a spectrum, from the most severe salt-wasting type to the simple-virilizing type and the least severe nonclassical form. Patients with CAH are at risk for various comorbidities due to the underlying adrenal hormone production imbalance as well as the treatment of the condition, which typically includes supraphysiologic glucocorticoid dosing. Children and adults require frequent monitoring and careful medication dosing adjustment. However, there are multiple novel therapies on the horizon that offer promise to patients with CAH in optimizing their treatment regimens and reducing the risk of comorbidities.
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Hiperplasia Suprarrenal Congénita , Glucocorticoides , Humanos , Hiperplasia Suprarrenal Congénita/diagnóstico , Hiperplasia Suprarrenal Congénita/terapia , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Glucocorticoides/uso terapéutico , NiñoRESUMEN
Mosquitoes (Diptera: Culicidae) pose a significant threat to public health worldwide, especially in tropical and subtropical regions, where they act as primary vectors in transmission of infectious agents. In Peru, 182 culicid species have been identified and several species of the genus Culex are known to transmit arboviruses. However, knowledge of mosquito diversity and distribution remains limited, with many studies focusing on specific regions only. Here, we describe a new morphological variation of Cx. (Culex) coronator Dyar and Knab, 1906, and report the presence of Culex (Carrollia) bonnei Dyar, 1921 in the central region of Peru, Huanuco. Specimens were obtained through larvae collections and identified through morphologic characterization, including dissection of male genitalia, and molecular analyses. In total, 17 mosquitoes were analyzed, and the genitalia of the male specimens allowed the identification of Cx. coronator and Cx. bonnei. Partial sequences of the CoxI gene corresponding to these two species were obtained (N = 10). Phylogenetic analysis revealed that the sequences of Cx. coronator grouped in a monophyletic clade with sequences ascribed to other species corresponding to the subgenus Carrollia, while Cx. bonnei specimens formed a monophyletic clade with homologous sequences from GenBank. This study underscores the importance of continued efforts to study the diversity and distribution of mosquitoes in Peru, including their potential role as vectors of human pathogens, to underpin effective disease control and prevention strategies, highlighting the importance of a complemented morphological and molecular analysis.
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Culex , Animales , Perú , Culex/anatomía & histología , Culex/clasificación , Masculino , Larva/anatomía & histología , Larva/clasificación , Genitales Masculinos/anatomía & histología , Filogenia , Femenino , Mosquitos Vectores/anatomía & histologíaRESUMEN
The term 'differences of sex development' (DSD) refers to a group of congenital conditions that are associated with atypical development of chromosomal, gonadal, and/or anatomical sex. DSD in individuals with a 46,XX karyotype can occur due to fetal or postnatal exposure to elevated amount of androgens or maldevelopment of internal genitalia. Clinical phenotype could be quite variable and for this reason these conditions could be diagnosed at birth, in newborns with atypical genitalia, but also even later in life, due to progressive virilization during adolescence, or pubertal delay. Understand the physiological development and the molecular bases of gonadal and adrenal structures is crucial to determine the diagnosis and best management and treatment for these patients. The most common cause of DSD in 46,XX newborns is congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, determining primary adrenal insufficiency and androgen excess. In this review we will focus on the other rare causes of 46,XX DSD, outside CAH, summarizing the most relevant data on genetic, clinical aspects, puberty and fertility outcomes of these rare diseases.
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Hiperplasia Suprarrenal Congénita , Fertilidad , Terapia de Reemplazo de Hormonas , Pubertad , Humanos , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Hiperplasia Suprarrenal Congénita/genética , Fertilidad/efectos de los fármacos , Femenino , Masculino , Trastornos del Desarrollo Sexual/genética , Desarrollo Sexual/genéticaRESUMEN
BACKGROUND: Adult-Acquired Buried Penis is a disorder associated with systemic obesity that confers increased risks of malignancy, sexual dysfunction, urinary abnormalities, and psychological distress. Surgical correction improves patient-reported functional and psychological outcomes and often requires collaboration between plastic and urologic surgeons. To improve postoperative cosmetic outcomes and decrease wound complications following adult-acquired buried penis repair, we performed an anatomic and histologic study of the superficial fascial layers providing support to the external male genitalia and describe our approach for fascial reconstruction. METHODS: We characterized the superficial fascial anatomy in three patients undergoing adult-acquired buried penis repair, including two patients with Wisconsin Type II disease and one patient with Wisconsin Type IV disease. Gross specimens were sent from two patients histologic analysis using H&E and elastin-specific stains to characterize the identity of the superficial fibrofatty tissue. RESULTS: In all three patients, the fundiform ligament overlying the suspensory ligament was identified, isolated, and transected for removal with the suprapubic specimen. We found that reapproximation of this ligament following transection at the time of escutcheonectomy provided significant lift to the penis and genitals via improved support of dartos fascia. Histologic analysis of the superficial fibrofatty tissue located beneath the dermis revealed histologic similarities with the superficial fascial system described previously in abdominal and breast tissue. CONCLUSIONS: Reapproximation of the fundiform ligament and superficial fascial tissue following suprapubic/lower abdominal fat pad removal during adult-acquired buried penis may improve postoperative cosmesis by reducing strain on the dermal closure. LEVEL OF EVIDENCE V: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors http://www.springer.com/00266 .
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Introdução: A hipertrofia de pequenos lábios combinada com capuz clitoriano redundante é uma queixa comum entre mulheres que procuram cirurgia plástica genital cosmética por queixas funcionais, psicológicas e estéticas. O objetivo deste estudo foi descrever a técnica boomerang, um tratamento cirúrgico da hipertrofia labial que se estende a todo o capuz clitoriano. Método: Foi conduzido um estudo retrospectivo, de caráter analítico, para avaliar os prontuários médicos de 48 pacientes consecutivas submetidas a cirurgia estética genital feminina entre julho de 2017 e julho de 2021. Todos os procedimentos cirúrgicos foram realizados pela mesma cirurgiã. A técnica utilizada nas pacientes consistiu na ressecção longitudinal dos excessos de pequenos lábios vaginais associado à ressecção de capô clitoriano em forma de boomerang e à clitoropexia. Resultados: A idade média das pacientes submetidas a cirurgia foi de 36,25 anos (intervalo 18-59 anos), entre as quais 94,44% apresentaram queixas estéticas associadas ou não a queixas funcionais, e 5,56% apresentaram somente queixas funcionais. Duas pacientes apresentaram hematomas nos grandes lábios no pós-operatório imediato, e uma paciente teve deiscência de sutura nos pequenos lábios. Conclusão: A técnica boomerang é reprodutível e proporciona benefícios estéticos e/ou funcionais na genitália feminina.
Introduction: Hypertrophy of the labia minora combined with a redundant clitoral hood is a common complaint among women seeking aesthetic genital cosmetic surgery for functional, psychological, and aesthetic complaints. The objective of this study was to describe the boomerang technique, a surgical treatment for labial hypertrophy that extends to the entire clitoral hood. Method: A retrospective, analytical study was conducted to evaluate the medical records of forty-eight consecutive patients who underwent female genital cosmetic surgery between July 2017 and July 2021. The same surgeon performed all surgical procedures. The technique used in the patients consisted of longitudinal resection of excess small vaginal lips associated with resection of the boomerang-shaped clitoral hood associated with clitoroplasty. Results: The average age of patients undergoing surgery was 36.25 years (range 18-59 years), among whom 94.44% had aesthetic complaints associated or not with functional complaints, and 5.56% had only functional complaints. Two patients had bruises on the labia majora in the immediate postoperative period, and one patient had suture dehiscence on the labia minora. Conclusion: The boomerang technique is reproducible and provides aesthetic and/or functional benefits to the female genitalia.
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Features of shell and genitalia as well as nucleotide sequences of selected mitochondrial and nuclear genes of specimens of Monachacantiana from ten northern French and two Dutch populations were compared with the same features of British and Italian populations. They were found to be very similar to populations previously identified as belonging to the CAN-1 lineage of M.cantiana. This confirms previous suggestions that M.cantiana was introduced to western Europe (England, France and the Netherlands) in historical times.
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BACKGROUND: To compare the fat transfer combined with plasma energy and only fat transfer methods for genital rejuvenation and to investigate the efficacy enhancing properties of plasma energy. METHODS: Forty-six patients were equally divided into two groups according to the surgical method as the group A (n = 23) and the group B (n = 23). The patients in the group A received only fat transfer, while the patients in the group B received fat transfer combined with plasma energy. Both groups were scheduled for postoperative follow-up at 1, 3, 6, and 12 months. The lifting effect on the labia majora after the procedure was evaluated with photographs and patient satisfaction questionnaires including the female genital self-image scale (FGSIS). RESULTS: The mean age of all participants was 32.8 ± 5.1 years, and the mean body mass index (BMI) was 24.7 ± 3.4 kg/m2. The mean preoperative FGSIS scores were similar between the groups (p = 0.542). The mean total FGSIS score was 18.8 ± 1.4 in the group A and 18.3 ± 1.5 in the group B in the preoperative period. However, the mean FGSIS scores at 1, 3, and 6 months were significantly higher in the group B than the group A (p = 0.032, p = 0.012, and p = 0.009, respectively). At 6 months of follow-up, the mean total FGSIS score was 20.7 ± 1.4 in the group A and 22.3 ± 1.5 in the group B, indicating a statistically significant difference (p = 0.028). CONCLUSION: This novel technique is a more minimally invasive technique compared to other energy modalities with lower lateral and vertical energy dissipation than other conventional methods, and labia majora fat filling augmentation application can be performed with more permanent and longer-lasting outcomes than fat transfer only. LEVEL OF EVIDENCE II: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266.
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Carcinoma Basocelular , Dermoscopía , Neoplasias Cutáneas , Humanos , Estudios Retrospectivos , Femenino , Neoplasias Cutáneas/patología , Neoplasias Cutáneas/diagnóstico , Neoplasias Cutáneas/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Carcinoma Basocelular/patología , Carcinoma Basocelular/diagnóstico por imagen , Carcinoma Basocelular/diagnóstico , Anciano , Adulto , Anciano de 80 o más AñosRESUMEN
BACKGROUND: Analysing the literature about the reproductive anatomy on New World Primates, one can see the need of standardisation on the description methods and, more importantly, the lack of detailed information. The problem is aggravated by the difficult access to specimens of the endangered species such as Brachyteles sp. This paper's objective was to extend knowledge on the male reproductive anatomy of these primates. The testis and funiculus spermaticus of Brachyteles are described in detail. METHODS: We utilised one individual of Brachyteles arachnoides, two hybrids (B. arachnoides × Brachyteles hypoxanthus) and photographs of the testis of a third fresh specimen of a hybrid individual. RESULTS: The septum formed by tunica dartos adheres to the testis and separates the scrotum in two testicular cavities. Passed the spermatic cord, the external spermatic fascia continues with the tunica dartos, covering the cranial half of the testis. The fascia cremasterica divides itself in bundles of fibres and forms loops around the testicles creating a sac like structure that seems to be unique among Neotropical Primates. The appendix testis is described for the first time in platyrrhini. It is presented as a sessile structure in the extremitas capitata of the testis. Previous literature on the reproductive anatomy of platyrrhini is limited. Despite that, it can be said that the large size and volume of the testis, and complex structure of the cremaster, could consist of a heat loss reduction strategy in cold and humid forest environments. CONCLUSIONS: Except for the larger size of the testicles in hybrid individuals, no other significant morphological differences were found between B. arachnoides and hybrids (B. arachnoides × B. hypoxanthus).
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Atelinae , Testículo , Animales , Masculino , Testículo/anatomía & histología , Atelinae/anatomía & histología , Atelinae/fisiología , Cordón Espermático/anatomía & histologíaRESUMEN
PURPOSE: Varicocele is a condition known to cause damage to seminal parameters and sperm function. Furthermore, it has been hypothesized that the varicocele effect on fertility is time-dependent; however, little is known about the consequences of its establishment time on reproductive organs and/or sperm function. This study aimed to evaluate the effect of the duration of experimental varicocele on reproductive organs, sperm parameters, and sperm function. MATERIALS AND METHODS: Varicocele induction surgeries were performed in Wistar rats aged 40 or 100 days old. At 160-day-old, analyses were performed, including biometry of reproductive organs (prostate, seminal vesicles, epididymis, and testis), sperm parameters (vitality, morphology, and motility), and sperm function tests (nuclear DNA integrity, acrosome integrity, and mitochondrial activity). RESULTS: The analysis of the biometry of reproductive organs showed no differences between distinct ages in which varicocele was induced. The total abnormal sperm morphology was bigger in animals with varicocele induced to 100 days old than in animals with varicocele induced to 40 days old. Regarding nuclear DNA integrity, animals of varicocele induced to 100 days old showed worse results compared to animals of varicocele induced to 40 days old. Other parameters analyzed showed no differences between varicocele groups. CONCLUSION: In this study conducted on rats, we conclude that varicocele adversely affects sperm, particularly its function. However, we did not observe a negative progressive effect on sperm.
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Ratas Wistar , Análisis de Semen , Motilidad Espermática , Espermatozoides , Varicocele , Animales , Masculino , Varicocele/fisiopatología , Varicocele/patología , Espermatozoides/fisiología , Motilidad Espermática/fisiología , Factores de Tiempo , Modelos Animales de Enfermedad , Testículo/patología , Ratas , Factores de Edad , Epidídimo/patologíaRESUMEN
In less than 10% of cases, males may have isolated epispadias, which is caused by failure in the urethral tubularization process, leading to dorsal urethral defect. This case report presents a unique instance where epispadias was associated with ambiguous genitalia. A 5-year-old boy diagnosed with epispadias. The penis resembled external female genitalia, with scrotal skin covering it. He underwent a two-stage operation without complications. The aim of the surgical techniques is to correct these anomalies and restore urinary continence and sexual function. Long-term outcomes of the surgery can vary, which highlights the need for further research.