Unilateral Suprainguinal Ectopic Scrotum: Case Report and Literature Review.

Ectopic scrotum is an infrequent congenital scrotal anomaly. Different surgical methods of correcting ectopic scrotum have been used, but none have produced optimal cosmetic results for all types. We describe a case of left ectopic suprainguinal scrotum in a 14-month-old boy who had an undescended left testicle and a left-sided scrotal skin tag. Single-stage rotational flap scrotoplasty and unilateral orchiopexy were performed; however, we modified the surgical technique of scrotal rotation by excising the intervening longitudinal skin. Eight months after surgery, the repositioned scrotum had a better appearance, and the affected testicle was similar in size to the contralateral one. In comparison with other surgical methods, pedicle flap rotation of the ectopic scrotal skin with excision of the intervening longitudinal skin may produce a better cosmetic outcome.

A novel corporoplasty technique with a urethral plate flap in hypospadias repair.

OBJECTIVES: To report a novel corporoplasty technique with a urethral plate flap in hypospadias repair and evaluate its safety and efficacy for ventral lengthening. METHODS: Data were retrospectively collected from consecutive patients with hypospadias who underwent urethral plate flap corporoplasty between July 2021 and March 2022. All patients underwent hypospadias repair using the Duckett technique. The corporoplasty procedure involved the following key steps: the half-spongiosum of the urethral plate was harvested as a flap (with a pedicle attached to the corpus cavernosum); a transverse incision of the tunica albuginea was made adjacent to the pedicle; and the flap was patched onto the corporal defect. RESULTS: The study included 10 patients, with a median age of 20 months. The initial meatal location was penile in two patients, penoscrotal in four patients, and scrotal in four patients. The median ventral curvature was 45° after degloving and urethral plate transection. The median ventral lengthening distance proportional to penis length was 0.21. During the median follow-up of 13.8 months, complications occurred in three cases, including two cases of fistula and one case of urethral stricture with secondary diverticulum. No cases of recurrent ventral curvature, meatal stenosis, or urethral dehiscence were noted. Postoperative ultrasonography showed a good continuation of the tunica albuginea and integrity of the stratum spongiosum at the corporoplasty site. CONCLUSIONS: Urethral plate flap corporoplasty is a simple and effective ventral lengthening procedure. The novel corporoplasty technique allows for anatomical and architectural repair of corporal disproportion.

Novel androgen receptor gene variant containing a frameshift mutation in a patient with complete androgen insensitivity syndrome.

A variety of mutations in the androgen receptor (AR) gene are linked to androgen insensitivity syndrome (AIS). AIS is the most common specific cause of 46, XY disorder in sex development. Here, we reported a patient which presented as a female with 46, XY karyotype and normal female external genitalia. The patient was diagnosed with complete AIS caused by a novel mutation (NM_000044, c.2678-2726del, p. Pro893Leufs*35) in the AR gene. Targeted exome sequencing was used to detect the patient's androgen receptor gene mutations. Sanger sequencing was used to validate the mutation. This study showed that a novel mutation of the AR gene can cause complete AIS; the study also broadened the AR mutation spectrum and indicated that targeted exome sequencing could help facilitate the diagnosis of complicated disorders in sexual development.

Splenogonadal fusion: a case report and review of the literature.

BACKGROUND: Splenogondal fusion (SGF) is a rare congenital anomaly characterized by abnormal association between the splenic tissue and the gonads or mesonephric remnants. SGF that requires separate two-stage laparoscopic staged Fowler-Stephen orchiopexy on both the left and right sides is extremely rare. SGF could be misdiagnosed as testicular malignancy and leads to unnecessary orchiectomy. CASE PRESENTATION: This is a case of an 8-month old male infant presented with bilateral cryptorchidism, B-mode ultrasound visualized the left and right testes in the lower abdominal cavity and the upper margin of the left testicle as a hypoechoic mass extending to the spleen, indicating an undescended right testis and possible SGF on the left side. Single-site laparoscopic examination confirmed the diagnosis of SGF on the left side and an undescended right testis. As both testes were high and the right spermatic vessel was poorly developed and short, a routine single stage orchiopexy would be difficult and risky, therefore, separate two-stage laparoscopic staged Fowler-Stephen orchiopexies for both sides were implemented. Stage 1 of the staged Fowler-Stephen orchiopexy for the right side was performed first without treating the left side, Stage 2 for the right side, separation of the left testis from the spleen as well as Stage 1 for the left side were performed 7 months later, and Stage 2 for the left side was performed 7 months after that. Follow-up ultrasound 1 year after the surgery revealed no obvious abnormalities in the shapes of the testes or their blood supply. This treatment strategy prevented unnecessary orchiectomy. CONCLUSIONS: We reported a rare case of SGF that needed separate two-stage laparoscopic staged Fowler-Stephen orchiopexies for both sides, and a review of the recent literature. SGF is a rare congenital anomaly often diagnosed incidentally during exploration/surgery for scrotal swelling/mass, cryptorchidism or inguinal hernia in young patients. Surgeons, especially pediatric surgeons should be aware of this rare condition to avoid unnecessary, life-altering radical orchiectomy. When routine single stage orchiopexy is not feasible or risky for either side, separate two-stage laparoscopic staged Fowler-Stephen orchiopexies could be performed on both the left and right sides to avoid unnecessary orchiectomy.

[Progress on evaluation, diagnosis and management of disorders of sex development].

Disorders of sex development (DSD) refer to a group of diseases characterized by abnormal congenital development of chromosomes, gonad or genitals with different pathophysiological changes and clinical manifestations. DSD is more common in neonates and adolescents, and neonates often show genital abnormalities while adolescents show abnormal sexual development during puberty. It is the international consensus that the scope of DSD should include basic clinical evaluation (internal and external genitalia and endocrine hormones), diagnostic confirmation (chromosome, genetic diagnosis), psychological assessment for children and family, treatment (sex assignment, hormone replacement and surgical intervention), potential fertility protection and long-term follow-up, which require the expertise of pediatric endocrinology, pediatric urology, clinical psychology, genetic disciplines, medical images and other related disciplines; that is, individualized management of children with DSD requires an experienced multidisciplinary team (MDT). This article reviews the recent progress on the evaluation, diagnosis and management of disorders of sex development.

[Fetal anteroposterior renal pelvic diameter for predicting antenatal hydronephrosis requiring postnatal surgery].

OBJECTIVE: To assess the value of fetal anteroposterior renal pelvic diameter (APD) in predicting antenatal hydronephrosis requiring surgical treatment after birth. METHODS: A total of 525 cases of antenatal hydronephrosis detected by prenatal ultrasonography (ultrasound index APD ≥ 4 mm in the second trimester and APD ≥ 7 mm in the third trimester) in Zhejiang Prenatal Diagnosis Center from June 2007 to June 2018 were retrospectively analyzed. ROC curve was used to analyze the relationship between these ultrasound indicators and the requirement for surgical treatment after birth. RESULTS: There were 162 cases (30.9%) diagnosed in the second trimester and 363 cases (69.1%) diagnosed in the third trimester; 131 cases were diagnosed pathologically after birth, of which 121 finally underwent surgical treatment. The area under ROC curve (AUC) of APD in middle pregnancy for prediction of requiring surgery 1-12 years after birth was 0.910; the cut-off value of APD was 8.45 mm with a sensitivity of 97.1%, specificity of 70.9%, positive predictive value (PPV) of 47.9%, and negative predictive value (NPV) of 98.9%. The AUC of APD in late pregnancy for prediction of requiring surgery 1-12 years after birth was 0.800; the cut-off value of APD was 12.25 mm with a sensitivity of 66.7%, specificity of 81.2%, PPV of 51.7%, and NPV of 89.1%. CONCLUSIONS: APD in pregnancy can be used to predict whether the fetus with hydronephrosis needs surgical treatment after birth, and the prediction value of APD in the middle pregnancy is better.

Width proportion of the urethral plate to the glans can serve as an appraisal index of the urethral plate in hypospadias repair.

OBJECTIVES: To find a new appropriate evaluation for urethral plate quality in hypospadias repair, with particular interest in the width proportion of the urethral plate to the glans, serving as an appraisal index. METHODS: Data were prospectively collected from prepubertal boys who underwent primary tubularized incised plate hypospadias repair between January 2014 and April 2016 in one center. Intrinsic parameters of the penis (meatal location, glans width, urethral plate width and curvature degree) were measured during the operation. Urethroplasty complications were recorded during follow up. The correlation between width proportion of the urethral plate to the glans and urethroplasty complications was analyzed. RESULTS: Primary tubularized incised plate repair was carried out in 442 patients (mean age 2.8 years, range 0.5-12 years). At mean follow up of 26 months (range 12-38 months), urethroplasty complications occurred in 59 (13.3%) patients. The width proportion of the urethral plate to the glans was weakly correlated to both the glans width and meatal location. The width proportion of the urethral plate to the glans ranged from 0.18 to 0.73, with a mean of 0.39. The cut-off value of width proportion of the urethral plate to the glans was determined to be 0.36 by the receiver operating characteristic curve. Urethroplasty complications occurred in 17 out of 254 patients (6.7%) with width proportion of the urethral plate to the glans >0.36, and 42 out of 188 patients (22.3%) with width proportion of the urethral plate to the glans ≤0.36. The width proportion of the urethral plate to the glans ≤0.36 showed an increased odds of 4.819-fold (95% confidence interval 2.548-9.112, P < 0.001) risk of urethroplasty complications compared with width proportion of the urethral plate to the glans >0.36. Midshaft and proximal meatal location also increased the risk of urethroplasty complications. CONCLUSIONS: The present study highlights the value of the width proportion of the urethral plate to the glans for objectivity and accuracy in urethral plate evaluation, which in turn serves as an independent factor influencing outcomes in tubularized incised plate repair.

Management and prognosis of adrenocortical tumors in children: can we find out an appropriate points-scoring system to predict prognosis?

BACKGROUND/PURPOSE: Adrenocortical tumors (ACTs) are rare in childhood. There are no recognized criteria to exactly distinguish between benign and malignant forms, or predict prognosis. The incidence of tumor varies across geographic regions or ethnicities, as well as malignant proportion. The aim of this study is to examine a single institution's experience with pediatric ACTs and to validate the prognostic value of the biologic/pathologic criteria of Wienecke. METHODS: Records of 26 pediatric ACTs between 1994 and 2016 in our center were reviewed retrospectively. The data recorded of each patient included clinical characteristics, treatment, pathologic findings, disease stating, and outcome. Tumors were categorized according to the Wienecke criteria. RESULTS: All patients underwent primary surgical excision, including negative margins in 20 cases. Stage distribution at diagnosis was: ST I 12, ST II 8, ST III 5, and ST IV 1. According to Wienecke scoring system, 13 cases were <3 criteria, 6 cases were =3 criteria, and 7 cases were >3 criteria. At median follow-up of 34.5 months, 18 patients survived without evidence of disease and 8 patients had lethal outcome. There was a strong association between high Wienecke score and both high stage and adverse outcome. CONCLUSIONS: Wienecke criteria can be an appropriate points-scoring system to predict prognosis for adrenocortical tumors in children. Complete surgical resection with negative margins is optimal for survival.

Neoadjuvant Intraarterial Chemotherapy for Treatment of Malignant Vaginal Tumors in Children: A Single-Center Experience.

Six patients (aged 3-36 mo) with vaginal tumors (rhabdomyosarcoma and endodermal sinus tumor [EST]; n = 3 each) received intraarterial chemotherapy (IAC) and intravenous chemotherapy. Patients underwent internal iliac artery infusion with cisplatin, pirarubicin, and vindesine. Intravenous chemotherapy with vindesine, ifosfamide, and etoposide was administered after 3 weeks. Vaginal tumors disappeared in all patients after 2 or 3 cycles of alternating therapy. Two patients underwent resection of pelvic metastases. Intravenous consolidation chemotherapy was applied. Four patients were disease-free at a median follow-up of 5.8 years. One patient had pelvic recurrence treated with "salvage" therapy with IAC and surgery and was disease-free for 2.5 years.

[Advances in the diagnosis and hormone replacement treatment of 46, XY disorders of sex development].

Disorders of sex development (DSD) is defined as a congenital condition or atypical development of the chromosomal, gonadal, or anatomic sex. The diagnosis, gender assignment, and treatment of DSD require the guidance from experienced multidisciplinary teams. So far there has been no consensus about it in China. Due to dysgenetic gonads, defects in sex steroid biosynthesis or action, or gonadectomy during the prepubertal years, those with DSD suffer from hypogonadism. The hormone replacement therapy of DSD aims at general physiological health and long-term prognosis as well as the avoidance of unnecessary genital and gonadal surgery. This review focuses on the advances in the studies of the diagnosis and hormone replacement therapy of 46,XY DSD.

Malignant Inflammatory Myofibroblastic Tumor of the Urinary Bladder in a 14-Year-Old Boy.

Inflammatory myofibroblastic tumor (IMT) is an uncommon lesion with variable clinical behaviors from benign to mimicking malignant tumors. On rare occasions, IMT may exhibit malignant transformation, and the strategy of malignant IMT is remained undetermined. Herein, we report an extremely unusual case of IMT with malignant transformation of the urinary bladder in a 14-year-old boy characterized by local aggressive behavior and was successfully treated by combined surgery and perioperative chemotherapy.

[Management of moderate to severe pediatric concealed penis in children by Devine's technique via incision between the penis and scrotum].

OBJECTIVE: To search for a simple and effective surgical approach to the management of moderate to severe pediatric concealed penis in children. METHODS: We used Devine's technique via incision between the penis and scrotum in the treatment of 68 cases of moderate to severe pediatric concealed penis. The patients were aged 3 -13 (mean 6.5) years, 30 with moderate and 38 with severe pediatric concealed penis. RESULTS: This strategy achieved good near- and long-term effects and satisfactory appearance of the penis, which was similar to that of circumcision. At 3 months after surgery, the penile length was 3 - 5.2 cm, averaging (2.35 +/- 0.35) cm. CONCLUSION: Devine's technique via incision between the penis and scrotum is a simple and effective surgical option for moderate to severe pediatric concealed penis in children.

Ureteropelvic Junction Obstruction Caused by Crossing Vessels in Infants and Young Children.

BACKGROUND: To analyze the clinical characteristics of ureteropelvic junction obstruction (UPJO) caused by crossing vessels (CV) in infants and young children. METHODS: A retrospective analysis was performed on children with UPJO who underwent primary surgery. Patients were classified into laparoscopic pyeloplasty (LP) and open pyeloplasty (OP) groups and classified as ≤3 or >3 (years old) groups. Children with CV-caused UPJO were identified. RESULTS: A total of 747 patients were included. Ninety cases of CV were identified. The CV discovery rate was higher in the LP group (78/457, 17.1%) than in the OP group (12/290, 4.1%) (P < 0.001). In the ≤3 group, the CV discovery rate in the LP group (27/144, 18.8%) was higher than that in the OP group (11/274, 4.0%) (P < 0.001). In the LP group, there was no significant difference between ≤3 (27/144, 18.8%) and >3 (51/313, 16.3%) groups in the CV discovery rate. The rate in children with UPJO was not significantly different at any age (P > 0.05). Progressive aggravation of hydronephrosis (21/27, 77.8%) and symptomatic hydronephrosis (44/51, 86.3%) were the main surgical indications in the ≤3 and > 3 groups, respectively. There were no preoperatively confirmed cases of CV in the ≤3 group. In the OP group, five patients underwent reoperation, three of whom were due to failure to detect CV during the initial operation. CONCLUSIONS: The CV distribution is similar in children with UPJO across all ages; CV in infants and young children are not rare. LP should be considered as CV are prone to being missed during OP. LEVELS OF EVIDENCE: III.

[Measurement of penile length in children and its significance].

Nowadays, more and more parents are paying increasing attention to the penile length of their children. At present, the methods of measuring penile length mainly include manual measurement and ultrasonography. The former can be used to measure the flaccid, stretched and erected penile lengths, and its use for measuring the stretched penile length has been internationally accepted for its precise definition, unified description, and high repeatability. The latter, as a new method, is being gradually accepted for its imaging visualization and measurement accuracy. This article reviews different measurements of penile length in the mainstream literature of recent years, with an analysis of their advantages and disadvantages.

Role and significance of SIRT1 in regulating the LPS-activated pyroptosis pathway in children with congenital hydronephrosis.

Objective: To explore the characteristics and mechanism of sirtuin 1 (SIRT1) in lipopolysaccharide (LPS)-activated pyroptosis in the renal tissue of children with congenital hydronephrosis (CHn). Methods: We detected the expression characteristics and clinical significance of SIRT1 and pyroptosis pathway proteins in CHn renal tissues by immunohistochemistry. The degree of renal fibrosis was detected by Masson staining. The human renal tubular epithelial cell line (HK-2) was cultured in vitro and treated with LPS (1 µg/mL), the SIRT1-specific agonist SRT1720 (2.5 µmol/L) and small interfering RNA (siRNA)-SIRT1 for 48 hours. After 48 hours, Cell Counting Kit-8 was used to detect the changes in cell proliferation ability, and ELISA was used to detect the changes in the expression of interleukin (IL)-1ß and IL-18 in the cell supernatant. Real-time PCR (quantitative RT-PCR) and western blot analysis were used to detect the expression of SIRT1, caspase-1, caspase-4, NOD-like receptor thermal protein domain associated protein 3(NLRP3), and cleaved gasdermin D (GSDMD) in each group. Results: Serum inflammatory cytokines were significantly elevated in 13 children with CHn with urinary tract infection, mainly caused by Gram-negative bacteria. Severe renal fibrosis occurred in children with CHn. Compared with the control group, the expression of SIRT1 in CHn kidney tissues was decreased, and the expression of caspase-4 and GSDMD was increased. LPS inhibited the expression of SIRT1 in HK-2 cells, promoted the expression of caspase-1, caspase-4, NLRP3, cleaved GSDMD, promoted the expression of IL-1ß and IL-18 in the supernatant, and promoted pyroptosis in HK-2 cells. SRT1720 can inhibit LPS-activated pyroptosis by promoting SIRT1 expression, while siRNA-SIRT1 can further aggravate LPS-activated pyroptosis after inhibiting SIRT1 expression. Conclusions: LPS can promote the inflammatory response in children with CHn by activating non-canonical pyroptosis and inhibiting SIRT1 expression. Promoting SIRT1 expression can inhibit pyroptosis of renal tubular epithelial cells, reduce the release of IL-18 and IL-1ß, and alleviate the progression of renal fibrosis in children with CHn.

Laparoscopic versus robot-assisted pyeloplasty in infants and young children.

OBJECTIVE: To compare the characteristics of conventional laparoscopic pyeloplasty (LP) and robotic-assisted laparoscopic pyeloplasty (RALP) in infants and young children with ureteropelvic junction obstruction (UPJO). METHODS: We performed a retrospective study of patients (age: 0-36 months) who underwent dismembered pyeloplasty (Anderson-Hynes) with the fourth-generation RALP or traditional LP between April 2020 and December 2020. RESULTS: A total of 33 patients with UPJO were enrolled: 12 underwent RALP (9 left side; 3 right side) and 21 underwent LP (18 left side; 3 right side). In the RALP group, the median patient age was 17 months (range: 5-36 months). In the LP group, the median patient age was 9 months (range: 2-36 months) (P = 0.182). The mean operation times were 120.25 ± 37.54 min (RALP) and 156.10 ± 51.11 min (LP) (P = 0.042), and the mean lengths of hospital stay were 6.42 ± 1.62 days (RALP) and 8.19 ± 2.25 days (LP) (P = 0.023). Removal of the drainage tube was performed after 3.08 ± 0.69 days (RALP) and after 4.76 ± 1.81 days (LP) (P = 0.001). The postoperative pain showed no significant difference. The mean hospitalization costs were 61464.75 ± 2800.53 yuan (RALP) and 22169.52 ± 3442.15 yuan (LP) (P < 0.001). The mean follow-up time was 10-18 months. Significant improvements in the anteroposterior diameter and parenchymal thickness were observed after surgery. Conversion to laparotomy was not performed. No short-term complications occurred during postoperative hospitalization and follow-up. CONCLUSION: RALP has the advantages of less trauma and faster recovery. It can be safely and effectively performed in infants and young children, and its effectiveness is similar to that of traditional LP.

Primary splenic angiosarcoma in a 2.5-year-old boy with hepatic metastasis.

Primary splenic angiosarcoma in children is extremely rare and has a very poor prognosis. We reported a 2.5-year-old boy who had this rare entity and hepatic metastasis. The patient presented with left upper quadrant abdominal mass and anemia. The patient received multidisciplinary treatment and died 32 months after splenectomy.

Histopathological Features of Vanishing Testes in 332 Boys: What Is Its Significance? A Retrospective Study From a Tertiary Hospital.

The purpose of this study is to analyze the histopathological features of resected testicular remnant specimens, ascertain the incidence of the presence of either germ cells (GCs) or seminiferous tubules (SNTs), and assess whether surgical excision of the remnant is necessary. A total of 332 boys with vanishing testis underwent surgical removal of unilateral testicular remnants, with age 7-164 months (median age 25 months). Among the total 332 cases, 212 (63.8%) were younger than 36 months and 143 (66.5%) were found to have hypertrophied contralateral testes larger than 1.6 cm in longitudinal diameter under sonography. SNTs were only present in 21 (6.3%) cases and GCs were present in 7 (2.1%) cases. Compared to the review studies, the very low incidence of SNTs and GCs in which implies extremely low chances of potential malignancy. We propose that surgical removal of vanishing testis remnants in an inguinal or scrotal position may not be necessary.

Novel compound heterozygous mutations in the desert hedgehog (DHH) gene in cases of siblings with 46,XY disorders of sexual development.

BACKGROUND: Disorders of sex development (DSD) are congenital disorders in which the development of the chromosomal, gonadal, or anatomical sex is atypical. Mutations in various genes can impede gonadal development, hormone synthesis, or hormone function and cause DSD. METHODS: Exome sequencing was performed for two siblings with 46,XY DSD. All mutations identified by exome sequencing were confirmed by Sanger sequencing. RESULTS: The 13-month-old younger sibling had a female appearance of the external genital with a clitoris that was assessed as Prader III and scored 2 in the external masculinization score evaluative test. The 16-year-old elder sibling had severe hypospadias. Exome sequencing revealed compound heterozygous mutations in exon 3 of DHH in the siblings with 46,XY DSD. The frameshift mutation (NM_021044.3: c.602delC) was derived from the father and was predicted to be deleterious. The (c.937G > T) substitution mutation was derived from the mother. CONCLUSIONS: Novel compound heterozygous mutations of DHH led to 46,XY DSD in two siblings. This study expands the phenotypic mutation spectra of DHH in patients with 46,XY DSD.

Mental health status of children with disorders of sexual development and their correlates.

Disorders of sexual development (DSD) refer to the congenital abnormalities of chromosomes, gonads, or gender anatomy. Children with DSD usually experience more stress. The present study aims to evaluate the mental health status of children with DSD, and to explore the potential relevant factors. We included 30 children with DSD and 30 age- and gender-matched children without DSD as the control group. All the children and their parents completed the scales of the Hamilton Anxiety Scale (HAMA). Children over 8 years old (n = 22) completed the Screen Scale for Child Anxiety Related Emotional Disorders (SCARED), the Depression Self-rating Scale for Children (DSRSC), and the Egna Minnen av Barndoms Uppfostran-own memories of parental rearing practices in childhood. DSD children had significantly higher somatic anxiety, mental anxiety, and total anxiety scores than the control group (p < 0.001). The scores of the SCARED, anxiety, and depression subscales of DSD children were higher than those of control children (p < 0.05 and p < 0.001, respectively). The correlation analysis showed that the score of generalized anxiety was positively related to age and entertainment. The regression analysis showed that age was a major factor that affected generalized anxiety in DSD children, and neuroticism was a major factor of anxiety disorder and separation anxiety in DSD children. Children with DSD have obvious anxiety problems, which are associated with family environmental factors (entertainment, success, and conflicts) and age. It is important to focus emphasis on emotional stability in children with DSD for detecting anxiety-related emotional disorders early.