mutation leads to different genders of twinning: a case report and literature review.

Background: Loss-of-function variants in protein phosphatase 1 regulatory subunit 12A () can lead to urogenital and/or brain malformation syndrome (UBMS). When UBMS individuals exhibit genital abnormalities, it is combined with disorders of sex development (DSD). To report a variation in a case of 46,XY twins exhibiting different phenotypes of genital development.

Medium- and long-term outcomes of tunneled labial mucosa tube grafts for the repair of primary severe hypospadias and failed hypospadias.

Objective: This study aimed to evaluate the medium and long-term outcomes of tunneled labial mucosa tube graft urethroplasty in the treatment of primary severe hypospadias and failed hypospadias.

Methods: We retrospectively reviewed the medical records of the patients who underwent tunneled labial mucosa tube graft urethroplasty at a single center between 2007 and 2020. Data collected included patient demographic, operative and post-operative characteristics.

Diagnostic role of contrast-enhanced voiding urosonography (ceVUS) in pediatric duplex kidneys - a comparison with voiding cystourethrography (VCUG).

Aim: The present study aimed to assess the diagnostic efficacy of contrast-enhanced voiding urosonography (ceVUS) using SonoVue for evaluating duplex kidneys, and to compare it with fluoroscopic voiding cystourethrography (VCUG).

Material And Methods: Forty-six children with duplex kidneys confirmed by surgical intervention or cystoscopy were included in the study, resulting in a total of 46 duplex kidneys and 46 normal kidneys (138 pyeloureteral units).

Results: The overall sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of RBUS for diagnosing duplex kidney disease were 73.

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.

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.

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.

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.

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).

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.

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.

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.

Surgical management and molecular diagnosis of persistent Müllerian duct syndrome in Chinese patients.

Persistent Müllerian duct syndrome (PMDS) is a rare clinically and genetically overlapping disorder caused by mutations in the anti-Müllerian hormone (AMH) gene or the anti-Müllerian hormone receptor type 2 (AMHR2) gene. Affected individuals present uterus and tubes in normally virilized males and are discovered unexpectedly during other surgeries. Since it is rare and complex, a definitive clinical diagnosis can be missed, and there are no guidelines regarding how to deal with the uterus.

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 Characteristics and Distribution of Nerve Plexuses in the Dartos Fascia From Concealed Penis Children.

The purpose of this study is to analyze the nerve plexus distribution in dartos fascia of concealed penis (CP). A total of 28 CP patients met ASA categories I and II were included, with median age of 3.5 years (8 months-5 years).

Asymptomatic obstructive hydronephrosis associated with diabetes insipidus: a case report and review.

The treatment of asymptomatic hydronephrosis due to ureteropelvic junction obstruction (UPJO), as well as the timing and indications for surgical intervention, remain controversial. Diabetes insipidus (DI) is a rare disease in infants that is known to cause non-obstructive hydronephrosis, while its association with obstructive hydronephrosis has not been reported. Some studies have found that increased water intake is a predisposing risk factor of developing hydronephrosis.

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.

Identification of risk factors associated with numerous reoperations following primary hypospadias repair.

Introduction: Complications remain the top evaluation priority subsequent to hypospadias repair. Complications vary in further management, and usually require one or more reoperations. Patients and/or their parents concern not only with the success rate of reoperation, but also with the risk of numerous reoperations.

Renal malignant tumor with the loss of INI1 expression and WT1 positive in a 3-year-old boy: a case report.

Wilms' tumor is the most common primary renal malignancy in children (80%) and the less common tumors include renal cell carcinoma, rhabdoid tumor, clear cell sarcoma, cellular congenital mesoblastic nephroma and medullary carcinoma, all of which originate from renal parenchyma. The tumors originating from renal pelvis are rare. The immunohistochemistry (IHC) showed INI1 deletion with the WT1 positive which has not been reported as we know.

Prevention and control strategies for emergency, limited-term, and elective operations in pediatric surgery during the epidemic period of COVID-19.

The outbreak of coronavirus disease 2019 (COVID-19) caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has spread to more than 100 countries. Children approved to be susceptible to SARS-CoV-2 infection. Preventing and controlling the epidemic while ensuring orderly flows of pediatric surgery clinical work has proven to be a big challenge for both patients and clinicians during the epidemic.

[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).

[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.

Infantile synchronous primary bilateral testicular germ cell tumor: a case report and review of the literature.

Testicular tumors are uncommon in adults, accounting for <1% of all cancers, with testicular germ cell tumors (TGCTs) representing the majority (>95%) of reported cases. Adult and prepubertal TGCTs are fundamentally distinct and the latter is extremely rare, representing 1% of all pediatric solid tumors and having an annual incidence rate of 0.5-2/100,000 boys.

Neoadjuvant transcatheter arterial chemoembolization and systemic chemotherapy for treatment of clear cell sarcoma of the kidney in children.

Background: Clear cell sarcoma of the kidney (CCSK) is a rare and aggressive malignant renal tumor. We describe our experience with neoadjuvant transcatheter arterial chemoembolization (TACE) and systematic chemotherapy for the treatment of advanced CCSK in children.

Methods: Between January 2010 and December 2016, seven patients (3 boys and 4 girls; median 2.