Background Hypospadias, the most frequent congenital male external genitalia abnormality, is usually associated with curvature of the ventral penis, i.e. chordee. Abnormality of darto tissue has been suggested as the pathophysiology of chordees. Collagen is one of the most abundant fibrous proteins within the extracellular matrix. In this study, we determined the expression of collagen 1 (COL1A1) and COL6A1 in patients with hypospadias and associated them with the severity of penile curvature. Methods We included 60 children < 18 years old, consisting of 20 distal hypospadias, 20 proximal hypospadias patients, and 20 controls in our institution from 2017 – 2020. The expression of COL1A1 and COL6A1 in darto tissue was determined by reverse-transcriptase polymerase chain reaction (qPCR). The penile curvature severity was classified as mild (< 30 degrees), moderate (30–60 degrees), and severe (> 60 degrees). Results qPCR showed that COL1A1 and COL6A1 expression was significantly downregulated in the distal (0.88 (0.38–2.53) and 0.54 (0.16–4.35), respectively) and proximal 0.76 (0.33–2.57) and 0.57 (0.18–1.38), respectively) hypospadias groups compared to controls (1.85 (0.24–4.61) and 0.93 (0.17–4.06), respectively) with p-values of 0.024 and 0.018, respectively. Furthermore, there was a moderate correlation between COL1A1 and COL6A1 expression (r = 0.458, p < 0.0001). Interestingly, COL1A1 and COL6A1 were also significantly downregulated in the moderate and severe chordee groups compared to the mild chordee groups, with p-values of 0.003 and 0.037, respectively. Conclusions Aberrant COL1A1 and COL6A1 expression might affect abnormalities in darto tissue and penile curvature severity in hypospadias patients.
Background: As in LMICs, the prognosis of childhood ALL in Indonesia was lower than in HICs. Indonesian-ALL2013 protocol resulted in more toxicities and abandonments than expected. Therefore, it was modified into a pilot ALL2016 protocol. Changes to the ALL2013 protocol: no anthracyclines in SR, dexamethasone replaced prednisone in reinduction for HR and some drugs were rescheduled. Procedure: We compare the outcome of ALL2013 and ALL2016. Results: A total of 383 children with ALL were diagnosed, 21 were excluded. ALL2013 included 174 patients (106 SR and 68 HR) and ALL2016 188 (91 SR and 97 HR). The outcome of the ALL2016 was better than the ALL2013 (pOS 67.0% vs 60.3%; p=0.087 and pEFS 50.0% vs 37.9%; p=0.012) even when the number of HR patients was significantly higher in ALL2016 (51.6% vs 39.1%). The ALL2016 showed an early advantage for SR patients (pEFS 56.7% vs 47.2%; p=0.114 and pOS 74.4% vs 69.8%; p=0.298) due to the decrease of toxic deaths (10.4% vs 5.5%; p=0.211) however the number of late relapses were still high (19.5% vs 13.2%; p=0.282). In the HR group, both pEFS and pOS were significantly better in ALL2016 (pEFS 43.3% vs 23.5%; p=0.010 and pOS 59.8% vs 45.6%; p=0.036) due to less relapses (14.4% vs 29.4%; p=0.019). Both SR and HR showed a smaller number of abandonments in ALL2016. Conclusions: After small changes in protocol, initial toxicity and abandonments were reduced and the pOS and pEFS were improved. However, relapses still need to be lessened in the next protocol.
Background Hypospadias is a relatively common genital anomaly in humans, usually followed by inelastic dartos that causes penile chordee. Vascular endothelial growth factor (VEGF) is strongly linked to the viscoelasticity of tissues and their elastic phase. This study aimed to evaluate VEGF expressions in (1) fascia dartos between hypospadias and controls and (2) chordee severity. Methods This prospective cohort study involved 65 specimens from patients with hypospadias and ten specimens from controls. The samples were analyzed by quantitative real-time polymerase chain reaction (qPCR) for VEGF expression. Results The expressions of VEGF were not different between proximal and distal hypospadias patients and controls (fold change: distal − 0.25; fold change: proximal − 0.2; p = 0.664). The scaled expressions related to chordee severity were mild − 0.1; moderate 0.1; severe − 0.25 (p = 0.660). Conclusions VEGF expressions might not affect the severity of hypospadias and chordee, implying the pathogenesis is complex involving many growth factors. Further study with a larger sample size is necessary to clarify and confirm our findings.
BACKGROUND: Androgen (AR) and Estrogen (ER) hormones play an important role in the prenatal and postnatal development of the urogenital tract and especially the penis. Growth factors also influence the development of genital structures. Little is known about the exact role of Mastermind Like Domain 1 (MAMLD1) in sexual development. A role in sex differentiation through supporting testosterone production in critical periods of male development has been suggested. MAMLD1 mutations result in hypospadias with and without a disorder of sexual development (DSD) primarily because of compromised testosterone production around the critical period for fetal sex development, but the underlying etiology remains unclear. AIM: The objective of this study was to investigate the correlation between gene factor MAMLD1, AR, ER1, and ER2 with the incidence of hypospadias. OBJECTIVE: The objective of this study was to investigate the correlation between gene factor MAMLD1, AR, ER1, and ER2 with the incidence of hypospadias. METHODS: From 2017-2018, peri-urethral dartos were harvested from 46 patients with proximal hypospadias, 24 patients with distal hypospadias and 10 patients with normal penile were used as controls. The expressions of MAMLD1, AR, ER1, and ER2 were investigated by one-step quantitative polymerase chain reaction. RESULTS: Median age was 5 years old in the 70 patients with hypospadias and 6 years old in the control subjects. Total specimens taken included 24 distal penile, 46 proximal penile, and 10 normal penile specimens. We found decreasing MAMLD1 and AR expressions, but ER2 expression increased in patients with hypospadias compared to controls, which was statistically significant (p < 0.001). A positive correlation between MAMLD1 and AR was found in patients with hypospadias (r = 0.062; p = 0.038). CONCLUSIONS: Decreasing of MAMLD1 and AR expression was followed by increasing ER2 expression in patients with hypospadias. MAMLD1 had a positive correlation with AR so the defect of MAMLD1 may influence AR and increase the incidence of hypospadias.
Background: Hypospadias, the most frequent congenital male external genitalia abnormality, is usually associated with curvature of the ventral penile, i.e. chordee. Abnormality of dartos tissue has been suggested as the pathophysiology of the chordee. Collagen is one of the most abundant fibrous proteins within the extracellular matrix. In this study, we determined the expressions of collagen 1 (COL1A1) and COL6A1 in hypospadias patients and associated them with the severity of penile curvature.Methods: We involved 60 children <18 years old, consisting of 20 distal hypospadias, 20 proximal hypospadias patients, and 20 control in our institution from 2017 – 2020. The expressions of COL1A1 and COL6A1 from dartos tissue were determined by reverse-transcriptase polymerase chain reaction (qPCR). The penile curvature severity was classified as mild (<30 degree), moderate (30-60 degree), and severe (>60 degree). Results: qPCR showed that the COL1A1 and COL6A1 expressions were significantly downregulated in distal (0.88 (0.38-2.53) and 0.54 (0.16-4.35), respectively) and proximal 0.76 (0.33-2.57) and 0.57 (0.18-1.38), respectively) hypospadias groups compared to controls (1.85 (0.24-4.61) and 0.93 (0.17-4.06), respectively) with p-value of 0.024 and 0.018, respectively. Furthermore, there was a moderate correlation between COL1A1 and COL6A1 expressions (r=0.458, p<0.0001). Interestingly, the COL1A1 and COL6A1 was also significantly downregulated in the moderate and severe compared to the mild chordee groups with p-value of 0.003 and 0.037, respectively.Conclusions: Aberrant COL1A1 and COL6A1 expressions might affect the abnormality of dartos tissue and penile curvature severity in hypospadias patients.
Background: Hypospadias, the most frequent congenital male external genitalia abnormality, is usually associated with curvature of the ventral penis, i.e. chordee. Abnormality of darto tissue has been suggested as the pathophysiology of chordees. Collagen is one of the most abundant fibrous proteins within the extracellular matrix. In this study, we determined the expression of collagen 1 (COL1A1) and COL6A1 in patients with hypospadias and associated them with the severity of penile curvature.Methods: We included 60 children <18 years old, consisting of 20 distal hypospadias, 20 proximal hypospadias patients, and 20 controls in our institution from 2017 – 2020. The expression of COL1A1 and COL6A1 in darto tissue was determined by reverse-transcriptase polymerase chain reaction (qPCR). The penile curvature severity was classified as mild (<30 degrees), moderate (30-60 degrees), and severe (>60 degrees).Results: qPCR showed that COL1A1 and COL6A1 expression was significantly downregulated in the distal (0.88 (0.38-2.53) and 0.54 (0.16-4.35), respectively) and proximal 0.76 (0.33-2.57) and 0.57 (0.18-1.38), respectively) hypospadias groups compared to controls (1.85 (0.24-4.61) and 0.93 (0.17-4.06), respectively) with p-values of 0.024 and 0.018, respectively. Furthermore, there was a moderate correlation between COL1A1 and COL6A1 expression (r=0.458, p<0.0001). Interestingly, COL1A1 and COL6A1 were also significantly downregulated in the moderate and severe chordee groups compared to the mild chordee groups, with p-values of 0.003 and 0.037, respectively.Conclusions: Aberrant COL1A1 and COL6A1 expression might affect abnormalities in darto tissue and penile curvature severity in hypospadias patients.
Background : Hypospadias, the most frequent congenital male external genitalia abnormality, is usually associated with curvature of the ventral penis, i.e. chordee. Abnormality of dartos tissue has been suggested as the pathophysiology of chordee. Collagen is one of the most abundant fibrous proteins within the extracellular matrix. In this study, we determined the expressions of collagen 1 (COL1A1) and COL6A1 in patients with hypospadias and associated them with the severity of penile curvature. Methods : We involved 60 children <18 years old, consisting of 20 distal hypospadias, 20 proximal hypospadias patients, and 20 controls in our institution from 2017 – 2020. The expressions of COL1A1 and COL6A1 from dartos tissue were determined by reverse-transcriptase polymerase chain reaction (qPCR). The penile curvature severity was classified as mild (<30 degree), moderate (30-60 degree), and severe (>60 degree). Results : qPCR showed that the COL1A1 and COL6A1 expressions were significantly downregulated in distal (0.88 (0.38-2.53) and 0.54 (0.16-4.35), respectively) and proximal 0.76 (0.33-2.57) and 0.57 (0.18-1.38), respectively) hypospadias groups compared to controls (1.85 (0.24-4.61) and 0.93 (0.17-4.06), respectively) with p -values of 0.024 and 0.018, respectively. Furthermore, there was a moderate correlation between COL1A1 and COL6A1 expressions ( r= 0.458, p< 0.0001). Interestingly, the COL1A1 and COL6A1 were also significantly downregulated in the moderate and severe compared to the mild chordee groups with p -values of 0.003 and 0.037, respectively. Conclusions : Aberrant COL1A1 and COL6A1 expressions might affect the abnormality of dartos tissue and penile curvature severity in hypospadias patients.
Background: Hypospadias, the most frequent congenital male external genitalia abnormality, is usually associated with curvature of the ventral penis, i.e. chordee. Abnormality of darto tissue has been suggested as the pathophysiology of chordees. Collagen is one of the most abundant fibrous proteins within the extracellular matrix. In this study, we determined the expression of collagen 1 (COL1A1) and COL6A1 in patients with hypospadias and associated them with the severity of penile curvature.Methods: We included 60 children <18 years old, consisting of 20 distal hypospadias, 20 proximal hypospadias patients, and 20 controls in our institution from 2017 – 2020. The expression of COL1A1 and COL6A1 in darto tissue was determined by reverse-transcriptase polymerase chain reaction (qPCR). The penile curvature severity was classified as mild (<30 degrees), moderate (30-60 degrees), and severe (>60 degrees).Results: qPCR showed that COL1A1 and COL6A1 expression was significantly downregulated in the distal (0.88 (0.38-2.53) and 0.54 (0.16-4.35), respectively) and proximal 0.76 (0.33-2.57) and 0.57 (0.18-1.38), respectively) hypospadias groups compared to controls (1.85 (0.24-4.61) and 0.93 (0.17-4.06), respectively) with p-values of 0.024 and 0.018, respectively. Furthermore, there was a moderate correlation between COL1A1 and COL6A1 expression (r=0.458, p<0.0001). Interestingly, COL1A1 and COL6A1 were also significantly downregulated in the moderate and severe chordee groups compared to the mild chordee groups, with p-values of 0.003 and 0.037, respectively.Conclusions: Aberrant COL1A1 and COL6A1 expression might affect abnormalities in darto tissue and penile curvature severity in hypospadias patients.
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