Testicular microlithiasis (TM) is one of the symptoms of testicular dysgenesis syndrome (TDS). TM is particularly interesting as an informative marker of testicular germ cell tumors (TGCTs). KIT ligand gene (KITLG), BCL2 antagonist/killer 1 (BAK1), and sprouty RTK signaling antagonist 4 (SPRY4) genes are associated with a high risk of TGCTs, whereas bone morphogenetic protein 7 gene (BMP7), transforming growth factor beta receptor 3 gene (TGFBR3), and homeobox D cluster genes (HOXD) are related to TDS. Using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis, we investigated allele and genotype frequencies for KITLG (rs995030, rs1508595), SPRY4 (rs4624820, rs6897876), BAK1 (rs210138), BMP7 (rs388286), TGFBR3 (rs12082710), and HOXD (rs17198432) in 142 TGCT patients, 137 TM patients, and 153 fertile men (control group). We found significant differences in the KITLG GG_rs995030 genotype in TM (P = 0.01) and TGCT patients (P = 0.0005) compared with the control. We also revealed strong associations between KITLG_rs1508595 and TM (G allele, P = 0.003; GG genotype, P = 0.01) and between KITLG_rs1508595 and TGCTs (G allele, P = 0.0001; GG genotype, P = 0.0007). Moreover, there was a significant difference in BMP7_rs388286 between the TGCT group and the control (T allele, P = 0.00004; TT genotype, P = 0.00006) and between the TM group and the control (T allele, P = 0.04). HOXD also demonstrated a strong association with TGCTs (rs17198432 A allele, P = 0.0001; AA genotype, P = 0.001). Furthermore, significant differences were found between the TGCT group and the control in the BAK1_rs210138 G allele (P = 0.03) and the GG genotype (P = 0.01). KITLG and BMP7 genes, associated with the development of TGCTs, may also be related to TM. In summary, the KITLG GG_rs995030, GG_rs1508595, BMP7 TT_rs388286, HOXD AA_rs17198432, and BAK1 GG_rs210138 genotypes were associated with a high risk of TGCT development.
Series of clinical cases demonstrates functional state of lower urinary tract in girls with disorders of sex development (DSD) and hypospadias after the first stage of feminization. The study included 27 girls and women with DSD with hypospadias. Most of them have congenital adrenal hyperplasia (24), fewer girls have partial gonadal dysgenesis (1) and idiopathic virilization (2). Patients were examined before second stage surgical feminization in 115 years after the first stage. Concomitant pathology of the urogenital tract was detected in 19 (70%) patients. Urinary tract infection (UTI) was verified in 13 (48%), bladder dysfunction (BD) was diagnosed in 7 (26%), trapped menstrual secretions presented as hematometra, hematocolpos, and urine accumulation and stagnation in the vagina in anamnesis or as a result of preoperative studies were diagnosed in 9 (33%). Combination of the listed complications were observed in five patients (14%). Results of second stage of feminization confirmed connection of hypospadias with listed complications. This were detected in 11 (69%) patients after introitoplasty without separation of urinary and genital tracts (UGT). Introitoplasty with separation of UGT and elimination of hypospadias was complicated only four patients (36%), herewith the UTI and BD were eliminated. Hypospadias in girls with DSD is risk of development such complication as urinary tract infection, trapped menstrual secretions and bladder dysfunction. This circumstance requires change in surgical feminization tactics in girls with DSD, taking into account the anatomical components of genitalia malformations.
Introduction. Currently, the application of ultrasonic energy for tissue dissection is a routine practice in surgery. Its effectiveness and safety has been proven in proctology, pediatric coloproctology, surgeries in the endocrine organs and in the abdominal organs.Material and methods. Given the features of the endocrine system, the anatomy of virilized genitalia and positive experience in applying ultrasonic energy for surgical interventions, the authors present a comparative trial on the effectiveness of ultrasonic knife (USK) and traditional electrocoagulation in vaginoplasty in patients with disorders of sex development.Results. The obtained findings demonstrate that USK in comparison to traditional electrocoagulation significantly reduces vaginoplasty duration by 30%: median and quartiles of this index with USK were 57.5 [50; 65] min, while in the electrocoagulation group – 82.5 [75; 90] min. Difference is statistically significant (U-test 83.5, p <0.001) too. Difference between medians and its 95% confidence interval was 25 [20; 35] min.Conclusion. USK has better effects due to less tissue bleeding and, as a consequence, better visualization of the surgical field. An additional advantage is a unique ability to gently mobilize and preserve anatomical structures of the pelvis.
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