Embryology and Anatomy of Hypospadias

Hutson, John M.; Penington, Beth

doi:10.1007/978-3-662-07841-9_5

Cited by 8 publications

(8 citation statements)

References 18 publications

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“…Cryptorchidism may also be associated with other anomalies/malformations, and an early diagnosis is also very important to prevent the risk of a not infrequent malignant transformation of the gonads [126][127][128][129][130][131][132]. During childhood, germ cell tumors are more common, and they are often revealed at the stage of an in situ neoplasia.…”

Section: Discussionmentioning

confidence: 99%

Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli–Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review

Karseladze,

Asaturova,

Kiseleva

et al. 2024

JCM

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Androgen insensitivity syndrome (AIS) is a rare Mendelian disorder caused by mutations of the androgen receptor (AR) gene on the long arm of the X chromosome. As a result of the mutation, the receptor becomes resistant to androgens, and hence, karyotypically male patients (46,XY) carry a female phenotype. Their cryptorchid gonads are prone to the development of several types of tumors (germ cell, sex cord stromal, and others). Here, we report a 15-year-old female-looking patient with primary amenorrhea who underwent laparoscopic gonadectomy. Histologically, the patient’s gonads showed Sertoli cell hamartomas (SCHs) and adenomas (SCAs) with areas of Sertoli–Leydig cell tumors (SLCTs) and a left-sided paratesticular leiomyoma. Rudimentary Fallopian tubes were also present. The patient’s karyotype was 46,XY without any evidence of aberrations. Molecular genetic analysis of the left gonad revealed two likely germline mutations—a pathogenic frameshift deletion in the AR gene (c.77delT) and a likely pathogenic missense variant in the RAC1 gene (p.A94V). Strikingly, no somatic mutations, fusions, or copy number variations were found. We also performed the first systematic literature review (PRISMA guidelines; screened databases: PubMed, Scopus, Web of Science; ended on 7 December 2023) of the reported cases of patients with AIS showing benign or malignant Sertoli cell lesions/tumors in their gonads (n = 225; age: 4–84, mean 32 years), including Sertoli cell hyperplasia (1%), Sertoli cell nodules (6%), SCHs (31%), SCAs (36%), Sertoli cell tumors (SCTs) (16%), and SLCTs (4%). The few cases (n = 14, 6%; six SCAs, four SCTs, two SLCTs, and two SCHs) with available follow-up (2–49, mean 17 months) showed no evidence of disease (13/14, 93%) or died of other causes (1/14, 7%) despite the histological diagnosis. Smooth muscle lesions/proliferations were identified in 19 (8%) cases (including clearly reported rudimentary uterine remnants, 3 cases; leiomyomas, 4 cases). Rudimentary Fallopian tube(s) were described in nine (4%) cases. Conclusion: AIS may be associated with sex cord/stromal tumors and, rarely, mesenchymal tumors such as leiomyomas. True malignant sex cord tumors can arise in these patients. Larger series with longer follow-ups are needed to estimate the exact prognostic relevance of tumor histology in AIS.

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Section: Discussionmentioning

confidence: 99%

Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli–Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review

Karseladze,

Asaturova,

Kiseleva

et al. 2024

JCM

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“…The majority of respondents (n ¼ 138) do not administer HT to facilitate testicular descent (►Fig. 1). A small number prescribed human chorionic gonadotropin or gonadotropin releasing hormone in bilateral impalpable or palpable testes (n ¼ 13 and n ¼ 8, respectively).…”

Section: Medical Therapymentioning

confidence: 99%

“…Undescended testis (UDT) or cryptorchidism is a common congenital anomaly affecting around 1 in 20 males at birth. 1,2 Cryptorchidism can be divided into palpable and nonpalpable testis (NPT), according to the location of the testis and NPT accounts for approximately 20% of the cases. 3 Proper management of UDT is paramount, as the late descent of the testis can cause decreased fertility, increased incidence of testicular tumors, inguinal hernia or testicular torsion, and psychological morbidity.…”

Section: Introductionmentioning

confidence: 99%

European Paediatric Surgeons' Association Survey on the Adherence to EAU/ESPU Guidelines in the Management of Undescended Testes

Aubert,

Zaidan,

Garnier

et al. 2023

Eur J Pediatr Surg

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Introduction The aim of this study was to assess the adherence to the European Association of Urology (EAU)/European Society for Pediatric Urology (ESPU) 2016 guidelines in the management of undescended testes (UDT). Materials and Methods An online questionnaire was sent in 2023 to members of the European Paediatric Surgeons' Association (EUPSA). Results Among 157 members, 46 and 44% perform orchidopexy before 12 and 18 months, respectively. In total, 92% recommend conservative management of retractile testes and 58% offer close follow-up. In case of nonpalpable testes, 78% favor laparoscopy and 18% ultrasonography. If a peeping testicle is identified at laparoscopy, 76% perform a single-stage orchidopexy. In case of a high testicle, a staged procedure is preferred (84%). Management of blind-ending spermatic vessel is heterogenous with a majority ending the operation, followed by exploration of the inguinal canal and removal of the testicular nubbin with optional fixation of the contralateral testis. Only a minority recommends hormonal therapy to improve fertility potential in bilateral UDT. A majority (59%) discuss testis removal in UDT in postpubertal boys. In addition, 77% declare following the EAU/ESPU guidelines. Unawareness of guidelines was the most common reason cited for nonadherence. International guidelines were found to have the greatest influence on clinical practice; however, personal experience and institutional practice seem to play an important role. Conclusion Most recommendations of the EAU/ESPU guidelines are being followed by EUPSA members; however, personal and institutional practice impact decision making. Hormonal therapy in bilateral UDT, management of vanishing testes, and UDT in postpubertal boys could be improved.

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“…The spectrum of lesions varies from fairly minor lesions (e.g. anal stenosis) to some of the most complicated urogenital lesions including anal agenesis, rectal agenesis and rectal atresia, as well as complex abnormalities, the level being determined by the relationship to the pelvic floor (1,2,3,4) .An arrest of division of the cloaca may occur at any stage in the emberyological development process leading to a wide spectrum of ARMs (16,17).The reported incidence of ARM is approximately 1 of every 4,000-5,000 live births (3,5).ARMs occur more frequently in boys than girls, with a 56:44 male:female ratio was reported in large collective series.) 19).…”

Section: Introductionmentioning

confidence: 99%

Augmented Pressure Distal Colostogram.

Khalaf

2014

J. Fac. Med Baghdad

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Background: Anorectal malformations (ARMs) represent a complex group of congenital anomalies resulting from abnormal development of the hindgut, allantois and Mullerian duct, leading to incomplete or partial urorectal septal malformations. Objectives: The objective of this study is the accurate demonstration of the anatomy of the level of rectal atresia and any associated recto-urinary fistula by using APDC for optimal surgical management using APDC. Patients and methods: This is a prospective study including sixty-five male patients with high ARMs who were admitted to the department of pediatric surgery in Children Welfare Teaching Hospital in Medical City Complex-Baghdad-Iraq ; during the period from April 2009 to November 2011 ; they were subjected to divided descending colostomy in the postnatal period ;Augmented-Pressure Distal Colostogram (APDC) was performed at a later age for demonstration of the level of rectal atresia and the presence of the recto-urinary fistulas which then were confirmed at operation. Results: Rectourinary fistulas were demonstrated in 52 patients (80%) by APDC technique and were confirmed at operation in each case. In the remaining 13 patients (20%), this technique failed to demonstrate a fistula; in 8 of them no fistula was identified during operation or thereafter, while in the remaining 5 patients fistulas were detected during operation. Conclusion: The APDC readily demonstrated the level of the rectal atresia and the associated recto-urinary fistulas in the majority of the patients , providing a road map for definitive surgical repair of ARMs.

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Embryology and Anatomy of Hypospadias

Cited by 8 publications

References 18 publications

Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli–Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review

Androgen Insensitivity Syndrome with Bilateral Gonadal Sertoli Cell Lesions, Sertoli–Leydig Cell Tumor, and Paratesticular Leiomyoma: A Case Report and First Systematic Literature Review

European Paediatric Surgeons' Association Survey on the Adherence to EAU/ESPU Guidelines in the Management of Undescended Testes

Augmented Pressure Distal Colostogram.

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