Natural pyrethrins induce cytotoxicity in SH-SY5Y cells and neurotoxicity in zebrafish embryos (Danio rerio).

Natural pyrethrins are widely used in agriculture because of their good insecticidal activity. Meanwhile, natural pyrethrins play an important role in the safety evaluation of pyrethroids as precursors for structural development of pyrethroid insecticides. However, there are fewer studies evaluating the neurological safety of natural pyrethrins on non-target organisms. In this study, we used SH-SY5Y cells and zebrafish embryos to explore the neurotoxicity of natural pyrethrins. Natural pyrethrins were able to induce SH-SY5Y cells damage, as evidenced by decreased viability, cycle block, apoptosis and DNA damage. The apoptotic pathway may be related to the involvement of mitochondria and the results showed that natural pyrethrins induced a rise in Capase-3 viability, Ca2+ overload, a decrease in adenosine triphosphate (ATP) and a collapse of mitochondrial membrane potential in SH-SY5Y cells. Natural pyrethrins may mediate DNA damage in SH-SY5Y cells through oxidative stress. The results showed that natural pyrethrins induced an increase in reactive oxygen species (ROS) levels, superoxide dismutase (SOD) activity, malondialdehyde (MDA) content and catalase (CAT) activity, and induced a decrease in glutathione peroxidase (GPx) activity in SH-SY5Y cells. In vivo, natural pyrethrins induced developmental malformations in zebrafish embryos, which were mainly characterized by pericardial edema and yolk sac edema. Meanwhile, the results showed that natural pyrethrins induced damage to the Huc-GFP axis and disturbed lipid metabolism in the head of zebrafish embryos. Further results showed elevated ROS levels and apoptosis in the head of zebrafish embryos, which corroborated with the results of the cell model. Finally, the results of mRNA expression assay of neurodevelopment-related genes indicated that natural pyrethrins exposure interfered with their expression and led to neurodevelopmental damage in zebrafish embryos. Our study may raise concerns about the neurological safety of natural pyrethrins on non-target organisms.

A nomogram for predicting risk factors of testicular salvage after testicular torsion in children.

OBJECTIVES: This study aimed to establish a nomogram for predicting the probability of testicular salvage after testicular torsion in children. METHODS: We retrospectively collected data of children with testicular torsion who were treated at Shenzhen Children's Hospital between September 2005 and August 2022. Of the training cohort, 113 patients who underwent orchiectomy and five with testicular atrophy after orchiopexy were included in the failed testicular salvage group. Additionally, 37 patients who underwent orchiopexy without postoperative testicular atrophy were included in the successful testicular salvage group. The predictive factors affecting testicular salvage were determined using univariate and multivariate logistic regression analyses; a nomogram was constructed. The nomogram was verified using data from the validation group. RESULTS: Using multivariate logistic regression analysis, the independent risk factors of testicular salvage after testicular torsion were symptom duration (p = 0.034), intratesticular blood flow (p = 0.003), spermatic cord torsion degree (p = 0.037), and monocyte count (odds ratio: 0.012, p = 0.036). A nomogram was established based on these four risk factors. In the training cohort, the area under the receiver operating characteristic curve was 0.969. The area under the receiver operating characteristic curve of the verification cohort was 0.965, indicating good discrimination ability of the nomogram. Increased symptom duration without intratesticular blood flow increased the monocyte count and spermatic cord torsion degree and decreased the success rate of testicular salvage. CONCLUSION: This prediction model could obtain the corresponding probability of testicular salvage according to the clinical characteristics of different patients with testicular torsion, providing reference for clinicians and parents.

Advantages of single-site laparoscopic orchiopexy for palpable undescended testes in children: a prospective comparison study.

PURPOSE: To evaluate the feasibility of single-site laparoscopic orchiopexy for palpable undescended testes in children. METHODS: We prospectively studied patients with undescended testes between July 2021 and June 2022. In total, 223 patients were included in our study: 105 underwent single-site laparoscopic orchiopexy and 118 underwent conventional laparoscopic orchiopexy. During single-site laparoscopic orchiopexy, 3 ports were inserted within the umbilicus. RESULTS: No differences were observed between the groups in terms of age and laterality. For unilateral undescended testes, the operating time was longer in the single site group than in the conventional group at the early stages (55.31 ± 12.04 min vs. 48.14 ± 14.39 min, P = 0.007), but it was similar to the conventional group at the later stages (48.82 ± 13.49 min vs. 48.14 ± 14.39 min, P = 0.78). Testicular ascent occurred in one patient from each group. There was no significant difference in the success rate between the single-site group and the conventional group (99.0% vs. 99.2%, P = 0.93). In the single-site group, no visible abdominal scarring was observed, while in the conventional group, there were two noticeable scars on the abdomen. CONCLUSION: Single-site laparoscopic orchiopexy offers superior cosmetic results and comparable success rates compared to conventional laparoscopic orchiopexy for palpable undescended testes.

Risk factors associated with recurrent febrile urinary tract infection in children with neurogenic bladder who perform clean intermittent catheterization.

OBJECTIVE: To identify the clinical and urodynamic risk factors associated with the development of recurrent febrile urinary tract infections (FUTIs) in children with neurogenic bladder (NB) who perform clean intermittent catheterization (CIC). METHODS: Children with NB receiving CIC were prospectively enrolled from January to December 2019 and followed up prospectively for 2 years. All data were compared between occasional (0-1 FUTI) and recurrent FUTIs (≥2 FUTI) groups. In addition, the risk factors for recurrent FUTIs in children were evaluated. RESULTS: Complete data from 321 children were analyzed. Occasional FUTIs occurred in 223 patients, and 98 patients experienced recurrent FUTIs. Univariate and multivariate analyses, showed late-initiation and low-frequency CIC, vesicoureteral reflux (VUR), small bladder capacity and low compliance, and detrusor overactivity were associated with an increased risk of recurrent FUTIs. Children with high-grade VUR (grades IV-V) had a higher risk of recurrent FUTIs than those with low-grade VUR (grades I-III) (odds ratio [OR]: 26.95 vs. OR: 4.78, p < 0.001). CONCLUSIONS: Our study suggests that late-initiation and low-frequency CIC, VUR, small bladder capacity and low compliance, and detrusor overactivity were associated with recurrent FUTIs in patients with NB. In addition, high-grade VUR is a crucial risk factor for recurrent FUTIs.

Clinical characteristics and long-term management of prepubertal testicular teratomas: a retrospective, multicenter study.

Prepubertal testicular teratomas are rare tumors with limited practical guidance for their management. This study aimed to analyze a large multicenter database to establish the optimal management of testicular teratomas. We retrospectively collected data on testicular teratomas in children younger than 12 years who underwent surgery without postoperative chemotherapy in three large professional children's institutions in China between 2007 and 2021. The biological behavior and long-term outcomes of testicular teratomas were analyzed. In total, 487 children (with 393 mature teratomas and 94 immature teratomas) were included. Among mature teratomas, 375 cases were testis-sparing, 18 were orchiectomies, 346 were operated through the scrotal approach, and 47 underwent the inguinal approach. The median follow-up period was 70 months, and no recurrence or testicular atrophy was observed. Among the children with immature teratomas, 54 underwent testis-sparing surgery, 40 underwent orchiectomy, 43 were operated through the scrotal approach, and 51 were operated through the inguinal approach. Two cases of immature teratomas with cryptorchidism had local recurrence or metastasis within 1 year of the operation. The median follow-up duration was 76 months. No other patients had recurrence, metastasis, or testicular atrophy.  Conclusion: Testicular-sparing surgery is the first treatment choice for prepubertal testicular teratomas, with the scrotal approach being a safe and well-tolerated strategy for these diseases. Additionally, patients with immature teratomas and cryptorchidism may have tumor recurrence or metastasis after surgery. Therefore, these patients should be closely followed up in the first year after surgery. What is Known: • There is a fundamental difference between testicular tumours in childhood and those in adulthood - not only in terms of the difference and incidence but also in terms of histology. • For surgical techniques, the inguinal approach is recommended for the treatment of testicular teratomas in children. What is New: • The scrotal approach being a safe and well-tolerated strategy for testicular teratomas in children. • Patients with immature teratomas and cryptorchidism may have tumor recurrence or metastasis after surgery. These patients should be closely followed up in the first year after surgery.

Long-term, single-center study comparing open and laparoscopic procedures for congenital midureteral obstruction in children.

PURPOSE: To compare the safety and outcomes of open and laparoscopic procedures in the management of congenital midureteral obstruction in children (CMO). METHODS: Between February 2008 and February 2022, a total of 18 patients underwent open ureteroureterostomy (OU group), and 26 underwent laparoscopic ureteroureterostomy (LU group). The operative time, postoperative hospital stay, hospital costs, postoperative complications, and success rates of the two groups were compared. RESULTS: The median age of the patients was 59 months, with 29 patients presenting with asymptomatic hydronephrosis, 12 with intermittent abdominal pain, and 3 with flank mass. The median follow-up time was 42 months, and all patients were successfully treated surgically. The operative time and postoperative hospital stay in the LU group were shorter than those in the OU group (106.3 ± 21.4 vs. 85.8 ± 16.5 min, 11.6 ± 1.9 vs. 8.3 ± 1.7 days, respectively; p < 0.05). The OU group had two postoperative complications, both of which were classified as Clavien-Dindo grade II based on the Clavien-Dindo classification. One case of postoperative complication occurred in the LU group, which was classified as Clavien-Dindo Grade II. There was no significant statistical difference in complications between the two groups (P > 0.05). CONCLUSIONS: Our data showed that laparoscopic ureteroureterostomy is a safe and effective treatment for congenital midureteral obstruction in children, and provides several advantages, including fewer postoperative complications, shorter postoperative hospital stay, and a shorter operative time. Laparoscopic procedures should be the first choice for treating children with congenital midureteral obstructions.

Single-stage versus staged interposition urethroplasty for glandular hypospadias with severe penile curvature: 15-year experience.

PURPOSE: Our study examined the benefit of an alternative interposition urethroplasty (IU) procedure for glandular hypospadias (GH) with severe penile curvature (SPC). The technique involved transecting and reconstructing the urethra to preserve the distal glandular and coronal urethra and correct the curvature. We compared procedural characteristics, outcomes, and surgical complications for the single-stage and staged IU techniques. METHODS: We retrospectively studied 44 patients with GH with SPC who underwent single-stage or staged IU between March 2005 and June 2020. Demographics, operative details, complications, and uroflometry findings were analyzed. RESULTS: The median age at initial surgery was 37.5 months. Ten patients underwent single-stage IU repair, and 34 patients underwent staged IU repair. The median length of the interposition neourethra was 3.2 cm (2.2-4.3). The median follow-up duration was 58 months, and the overall complication rate was 13.6%. Complications were noted in 30% (3/10) and 8.8% (3/34) of patients in the single-stage and staged IU groups, respectively (p > 0.05). Fistula formation was noted in one and three patients in the single-stage and staged groups, respectively (8.8% vs. 10%, p > 0.05). Two cases of urethral stricture were documented in the single-stage group only. No chordee recurrence or urethral diverticula was noted in any of the patients. CONCLUSION: IU is a reliable and durable technique for GH with SPC. It avoided penile shortening, preserved the distal urethra, and reduced the risk of chordee recurrence. The staged IU technique had more superior outcomes compared to the single-stage IU technique.

A multicenter study on surgical procedure selection and risk factor analysis of postoperative complications after TIP and Duckett hypospadias repair.

BACKGROUND: Hypospadias is a common congenital malformation in pediatric urology with surgery being the only curative treatment. Although there are hundreds of surgical methods for hypospadias, no single method can treat all types, and there are still high rates of postoperative complications. We performed this study to investigate surgical procedure selection and perform risk factor analysis of postoperative complications in hypospadias repair. METHODS: Retrospective analysis was performed of complete clinical and follow-up data of children with hypospadias who were treated and followed up at 15 children's clinical centers in Mainland China from December 2018 to December 2019. Children were divided into groups according to Barcat classification and surgical methods in order to analyze the surgical choice for different types of hypospadias and the influencing factors of different surgical methods for complications. RESULTS: In total, 1011 patients were followed up for 26 months. According to Barcat classification, there were 248 cases of distal type hypospadias, 214 of intermediate, and 549 of proximal type. Transverse preputial island flap urethroplasty (Duckett) and tubularized incised plate urethroplasty (TIP) were performed in 375 (37.1%) and 336 cases (33.2%), respectively. The postoperative complication rate of distal hypospadias was 23.4% (15.8-57.1%), mid shaft 29.0% (22.7-40.0%), and proximal 43.7% (30.2-52.9%). Among the 375 patients in Duckett group, 192 had complications. Multivariate logistic analysis showed that the length of prepuce island flap (OR = 3.506, 95% CI: 2.258-5.442) was an independent risk factor for complications after Duckett operation (P < 0.001). In TIP group, there were 336 cases with 84 complications. Multivariate logistic analysis showed that the width of urethral plate after longitudinal resection (OR = 0.836, 95% CI: 0.742-0.942) and glans width (OR = 0.851, 95% CI: 0.749-0.965) were independent risk factors for postoperative complications after TIP (P = 0.003, P = 0.012). CONCLUSION: Several anatomical features play a role during the selection process among the different surgical approaches, including glans size, urethral plate width, and the meatal position. The width of the urethral plate and glans width were risk factors for postoperative complications after TIP. The length of prepuce island flap was a risk factor for complications after Duckett operation.

Risk factors for postoperative complications in children with proximal hypospadias with severe chordee who underwent urethral plate transection.

OBJECTIVES: To identify the risk factors associated with developing complications after transection of the urethral plate for proximal hypospadias with severe chordee. METHODS: We used a prospective database to identify patients with proximal hypospadias and severe chordee who underwent transection of the urethral plate and primary hypospadias repair in 2011 and 2021. All patients underwent urethroplasty with a follow-up period of >12 months. The association between variables (age, surgical technique, length of urethral defect, and surgeon volume) and postoperative complications (fistulas, urethral strictures, diverticula and glans dehiscence) was analyzed. RESULTS: Altogether, 493 patients were included, of whom 133 (26.9%) had postoperative complications. Univariate and multivariate analyses revealed that the preoperative proximal meatal position, one-stage repair, longer urethral defect length, and low surgeon volume were significant risk factors for postoperative complications with proximal hypospadias with severe chordee who underwent transection of the urethral plate. A urethral defect length of ≥4.55 cm was considered the best cutoff value for predicting postoperative complications. CONCLUSIONS: Preoperative proximal meatal location, one-stage repair, longer urethral defect length, and low surgeon volume were associated with postoperative complications in patients with proximal hypospadias with severe chordee who underwent transection of the urethral plate. A urethral defect length of ≥4.55 cm was significantly associated with the development of complications.

Efficacy of one- and two-stage segment urethroplasty for severe chordee with congenital short urethra.

OBJECTIVES: The aim of this study was to analyze the efficacy of segment urethroplasty to treat severe chordee with congenital short urethra and compared one-stage and two-stage segment urethroplasty. This procedure involved urethral transection to correct the chordee, and urethroplasty was performed to restore natural penile length. METHODS: We retrospectively studied a cohort of patients with severe chordee and congenital short urethra who underwent one- or two-stage segment urethroplasty at our institution between February 2006 and May 2020. We evaluated the efficacy of the procedures based on the incidence of complications. RESULTS: A total of 37 children were included in this study: 25 were treated with two-stage segment urethroplasty and 12 were treated with one-stage segment urethroplasty. The median length of neourethra in the one-stage repair group (3.21 cm) was similar to that in the two-stage repair group (3.23 cm; P > 0.05). Of the 37 patients, 32 (86.5%) were cured after urethroplasty. There were three patients with complications in the one-stage repair group (one urethral fistula and two urethral strictures) and two patients with fistula in the two-stage repair group. Among the five patients with complications, the three fistulas were successfully repaired through reoperation and the two urethral strictures were cured after urethral dilatation. No patient had diverticulum or recurrent chordee. CONCLUSIONS: Segment urethroplasty achieved satisfactory outcomes in the treatment of severe chordee with congenital short urethra. This can restore natural penile length, and the recurrence rate of severe chordee is low. The overall success rate of the two-stage procedure tends to be better than that of the one-stage procedure.

Urethroplasty for chordee with a paper-thin hypoplastic urethra: A long-term study.

OBJECTIVES: To establish a standard surgical procedure for children with chordee with a paper-thin hypoplastic urethra, which was based on the degree of curvature and urethral plate quality. To guidelines for the management of this disorder. METHODS: We reviewed 58 cases of chordee with a paper-thin hypoplastic urethra, managed between March 2006 and September 2020. The age of the patients ranged from 23 to 89 months. Operative details and postoperative complications were analyzed. RESULTS: Mild-moderate chordee with a paper-thin hypoplastic urethra correction was performed using a tubularized incised plate (13 cases) or onlay island flap (five cases) technique after penile degloving. Severe chordee with a paper-thin hypoplastic urethra required transection of the urethra and underwent a Duckett (11 cases) or staged (29 cases) urethroplasty. Complications in the tubularized incised plate and onlay island flap groups were 7.7% and 20%, respectively. The overall complication rate was 10.3% in the staged group and 27.3% in the Duckett group. CONCLUSIONS: Reconstruction of the entire hypoplastic urethra should be recommended in the management of chordee with a paper-thin hypoplastic urethra. We propose an algorithm based on the degree of curvature and urethral plate quality. The tubularized incised plate or onlay island flap technique can be used for mild to moderate chordee with a paper-thin hypoplastic urethra, and the outcome of the tubularized incised plate technique tends to be better than that of the onlay island flap technique. Duckett or staged urethroplasty is suitable for severe chordee with a paper-thin hypoplastic urethra, and the staged technique can improve the overall success rate.

Single-port laparoscopic percutaneous extraperitoneal internal ring closure for paediatric inguinal hernia using a needle grasper.

BACKGROUND: Single-site laparoscopic percutaneous extraperitoneal closure has been widely used for the repair of paediatric inguinal hernia. In this study, we aimed to introduce the usage of a needle grasper in single-port laparoscopic herniorrhaphy in children. METHODS: In our study, 447 children with inguinal hernia underwent single-port laparoscopic percutaneous extraperitoneal closure between October 2018 and October 2021 in Shenzhen Children' hospital were retrospectively reviewed. RESULTS: Among 447 patients, there were 396 males and 51 females with a mean age of 2.24 ± 0.36 years. A contralateral patent processus vaginalis was present in 165 unilateral hernia patients. All patients underwent laparoscopic percutaneous extraperitoneal closure successfully without converting to open operation. The mean operating time in unilateral and bilateral hernia patients were 10.23 ± 2.25 mine and 14.54 ± 2.81 mine respectively. One patient had subcutaneous emphysema, two male patients had inguinal hernia recurrence and none had complications such as hydrocele and testicular atrophy. Additional 0.3 cm port was done in 4 cases. The mean follow-up time was 22.36 ± 4.56 months. CONCLUSIONS: Single-port laparoscopic percutaneous extraperitoneal closure of paediatric inguinal hernia using a needle grasper is a feasible and safe procedure. It has the advantages of fewer skin surgical incisions, short operating time, low complication and low recurrence rate.

Association between winter season and desmopressin treatment efficiency in children with monosymptomatic nocturnal enuresis: a pilot study.

OBJECTIVES: The purpose of our study was to assess the association between the winter season and desmopressin treatment failure in South Chinese children with monosymptomatic nocturnal enuresis (MNE). MATERIALS AND METHODS: A retrospective study was conducted to analyze the clinical data of children with monosymptomatic nocturnal enuresis who have visited our urology clinic from January to December 2019. All patients received desmopressin treatment. Final treatment outcomes were categorized as successful (complete response) or failed (absent and partial response). The relationship between winter season and treatment response to desmopressin was evaluated. Additionally, associated risk factors were investigated with both univariate and multivariate regression analysis. RESULTS: In total, 393 patients diagnosed with MNE were included in the present study. There were no statistically significant differences in pretreatment variables at first visit between patients who visited the clinic in winter and those who did so in other seasons. However, the treatment failure rate of MNE in the winter season was higher than that of other seasons (77.50% vs. 52.74%). Multivariate logistic regression analysis demonstrated that the severity of symptoms and an initial clinic visit in the winter season were significantly related to desmopressin treatment failure in MNE patients. CONCLUSION: Winter season and severity of symptoms are two risk factors associated with desmopressin treatment failure in MNE patients.

Case Report:clinical experience of bilateral giant pediatric Testicular adrenal rest tumors with 3 Beta-Hydroxysteroid Dehydrogenase-2 family history.

BACKGROUND: We reported a patient with Testicular adrenal rest tumors(TARTs) caused by congenital adrenal hyperplasia(CAH). TARTs occur frequently in CAH population with 21-hydroxylase deficiency(21-OHD). There are few reports of TARTs with 3ß-hydroxysteroid dehydrogenase deficiency-2 (3ß-2HSD).Furthermore,gaint TARTs are rarely mentioned in reported cases involving affected siblings. CASE PRESENTATION: A 14-year-old male patient was admitted by congenital adrenal hyperplasia with progressively increasing bilateral testicular masses.The Patient and his elder brother had been performed mutational and chromosome analysis and biopsy. Hormonal and anthropometric measurements were performed during endocrine treatments. We successfully performed surgery and excised two 83mm×46mm×44mm and 74mm×49mm×31mm tumors. Our pathology and immunochemistry tests have proven TARTs in patient. At first, both siblings received regular doses of hydrocortisone and fludrocortisones and tumor size regressed. During the one-year irregular intake due to Covid-19 pandemic, endocrine treatment became insensitive and tumor size slowly increased. The gene analysis reported two novel mutations C.776 C>T and C.674 T>A. The C.776 C>T is from father and has been reported. The C.674 T>A inherited from mother and cannot found in gene library and may related to TARTs. CONCLUSIONS: This case illustrates inadequate hormone therapy could cause tumor enlargement. It is essential to seek for ultrasound examination once suspected scrotal mass occurred.It is necessary to adjust endocrine medicine or adopt surgery in refractory gaint TARTs. And presence of tunica vaginalis cavity may indicate the severity of TARTs in surgery.

Efficacy of topical steroid treatment in children with severe phimosis in China: A long-term single centre prospective study.

AIM: To evaluate the efficacy of topical steroid (0.1% mometasone furoate) therapy and factors affecting long-term outcome of paediatric severe phimosis in China. METHODS: A total of 1550 patients with severe phimosis classified by Kikiros system were prospectively enrolled in the study from January 2016 to February 2020. They were prescribed with 0.1% mometasone furoate twice a day for 4 weeks. Patients were re-evaluated at the end of weeks 2, 4, 8 and 6 months follow-up. RESULTS: A total of 1499 patients completed the treatment, 71.1% responded at the end of week 4. The long-term success rate was 66.0% over a mean follow-up of 26.9 months. The success rate of grade 4 phimosis was significantly higher than that of grade 5 at 4, 8 weeks and 6 months (P = 0.005, P < 0.001 and P < 0.001, respectively). Patients with balanoposthitis had a poorer outcome compared with patients without symptoms and patients symptoms by prepuce ballooning or urinary tract infections (P < 0.001). Initial grade of 5 phimosis and symptom with balanoposthitis were independent risk factors for recurrence. All patients had no systemic side effects, 23 cases developed local erythema or burning sensation. CONCLUSION: Topical steroid (0.1% mometasone furoate) is an effective treatment for severe phimosis in children. The recurrence was related to the grade or symptoms of severe phimosis.

[Ultrasound measurement of the testis volume of 0－14 years old Chinese boys].

OBJECTIVE: To obtain the normative values of the testis volume of 0－14 years old Chinese boys by ultrasound measurement. METHODS: We collected the testicular ultrasound data on 1607 Chinese boys with normal testes between January 2016 and June 2019. The boys were aged 0－14 years and divided into 14 age groups, with at least 100 cases in each group. We compared the mean, standard deviation and median of the testis volume among different age groups. RESULTS: The testis grew slowly in volume before 8 years old (0.372－0.678 ml), faster after 9 years old (1.040－4.600 ml), (1.040 ± 0.970) ml at 9－10 years, (1.876 ± 1.631) ml at 10－11 years, (2.831 ± 2.155) ml at 11－12 years, (3.640 ± 2.376) ml at 12－13 years, and (4.600 ± 3.559) ml at 13－14 years, larger in the 0－1 than in the 1－2 years group (ï¼»0.403 ± 0.130ï¼½ vs ï¼»0.372 ± 0.110ï¼½ ml, P = 0.04), negatively correlated in age between the two groups. CONCLUSIONS: Ultrasonography is an effective method for the measurement of the testis volume, which can provide the normative values of the testis volume of the 0－14 years old Chinese boys and some evidence for clinical diagnosis and consultation.

Growth data and tumour risk of 32 Chinese children and adolescents with 45,X/46,XY mosaicism.

BACKGROUND: The aim of this study was to review the growth data, gonadal function and tumour risk of children and adolescents with 45,X/46,XY mosaicism who presented to a single centre in China. METHODS: We conducted a retrospective review of the records of 32 patients with 45,X/46,XY mosaicism or variants who were hospitalized from August 2005 to September 2018. The main outcomes measured were growth data, genital phenotype, gonadal function, gonadal position, and histological results. RESULTS: A total of 32 patients were included. The age at diagnosis ranged from 0.6 to 16.3 years. Nineteen patients exhibited ambiguous genitalia, 12 had short stature, and 1 showed a lack of breast development. Seventeen patients were raised as males, and 15 were raised as females. The external masculinisation score (EMS) of patients raised as male was 4.5 (1~12) [median (range)]. The EMS of the females was 0 (0~1.5) [median (range)]. Patients showed normal heights under 2 years old, with a height SDS of 0 (- 1.5~1.4) [median (range)]. Growth appeared to decelerate after age 2 years, with SDS decreased to - 2.8 (- 3.0~ - 0.9) [median (range)]. The percentage of short stature was higher in females than in males (76.9% vs 50.0%). Twenty-five patients had gonadal pathological results. Complete gonadal dysgenesis (CGD) and mixed gonadal dysgenesis (MGD) were the most common pathogenic subtypes, accounting for 48.0 and 36.0%, respectively. Ovotesticular tissue was observed in only 4.0% of patients. Gonadoblastoma and positive OCT3/4 results were found in 18.8% of gonads in children over 2 years of age. Palpable gonads accounted for 50% of these. All patients who had gonadoblastoma were raised as females. CONCLUSIONS: Patients with 45,X/46,XY might have normal heights until 2 years old. Growth decelerations after 2 years of age were common. Patients who are being raised as females seemed to be shorter than males. CGD and MGD were the most common gonadal pathogenic subtypes. The tumour risk is high in these patients, even in palpable gonads and female patients.

Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation.

BACKGROUND: Congenital lipoid adrenal hyperplasia (CLAH) is an extremely rare and the most severe form of congenital adrenal hyperplasia. Typical features include disorder of sex development, early-onset adrenal crisis and enlarged adrenal glands with fatty accumulation. CASE PRESENTATION: We report a case of CLAH caused by mutations in the steroidogenic acute regulatory protein (StAR) gene. The patient had typical early-onset adrenal crisis at 2 months of age. She had normal-appearing female genitalia and a karyotype of 46, XY. The serum cortisol and adrenal steroids levels were always nearly undetectable, but the adrenocorticotropic hormone levels were extremely high. Genetic analysis revealed compound heterozygous mutations at c. 229C > T (p.Q77X) in exon 3 and c. 722C > T (p.Q258X) in exon 7 of the StAR gene. The former mutation was previously detected in only two other Chinese CLAH patients. Both mutations cause truncation of the StAR protein. The case reported here appears to be a classic example of CLAH with very small adrenal glands and is the second reported CLAH case with small adrenal glands thus far. In a 15-year follow-up, the patient's height was approximately average for females before age 4 and fell to - 1 SDS at 10 years of age. Her bone age was similar to her chronological age from age 4 to age 15 years. CONCLUSIONS: In conclusion, this is a classic case of CLAH with exceptionally small adrenal glands. Q77X mutation seems to be more common in Chinese CLAH patients. Additionally, this is the first report of the growth pattern associated with CLAH after a 15-year follow-up.

[High-frequency ultrasonographic characteristics and clinical features of primary testicular lymphoma in children].

OBJECTIVE: To investigate the high-frequency ultrasonographic characteristics and clinical features of primary testicular lymphoma (PTL) in children. METHODS: We retrospectively analyzed the high-frequency ultrasonographic manifestations and clinical characteristics of 11 cases of PTL in children, all confirmed by postoperative pathology. RESULTS: Most of the PTL patients were school-age children, with painless testicular enlargement as the initial symptom. Preoperative grey-scale ultrasonography showed involvement of the unilateral testis in 8, bilateral testes in 3, and both the testis and epididymis in 2 of in the 11 children with PTL. Nine of the cases were displayed as diffuse lesion and the other 2 as nodular lesion, all with extremely low echogenicity. Color Doppler flow imaging (CDFI) revealed abundant blood flow signals but no liquefaction or calcification echo in the lesions. Follow-up ultrasonography after immunochemotherapy showed complete disappearance of the lesion in 3 cases, reduction in another 3, no significant change in 1, and enlargement in the other 4. CONCLUSIONS: PTL in children has some specific ultrasonographic characteristics. A deeper insight into the ultrasonographic characteristics and clinical features of PTL may help improve ultrasonographic diagnosis of the disease.

PRAMEF12, a novel cancer/testis gene, regulates proliferation and apoptosis to promote progression of glioma.

Aim: To evaluate whether PRAMEF12 can serve as a diagnostic biomarker for glioma. Methods: We examined PRAMEF12 expression in multiple normal and glioma tissues. The diagnostic value of PRAMEF12 was evaluated using receiver operating characteristic curve analysis. The effect of PRAMEF12 ablation on proliferation, cell cycle and apoptosis was investigated. Database analyses were utilized for functional enrichment analysis. Results: PRAMEF12 expression in normal tissue was restricted to the human testis. PRAMEF12 displayed significant diagnostic value in glioma. PRAMEF12 knockdown inhibited cell proliferation, induced apoptosis and resulted in induction of S-phase cell cycle arrest. Pathway enrichment analysis indicated that PRAMEF12 may participate in cancer. Conclusion: PRAMEF12, a novel cancer/testis gene, may be a potential new diagnostic biomarker for glioma.

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