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INTRODUCTION: Penile augmentation with foreign material injection is used to increase penile length, girth, or both. Most of these individuals develop complications due to an abnormal mass formation known as penile paraffinoma. Multiple surgical techniques for restoring penile function and correcting near-normal penile shape have been developed, but prior techniques have some post-operative complications. METHODS: We explained the smile incision-modified technique for penile paraffinoma reconstruction using illustrations to describe step-by-step procedures. This study aimed to describe our modified surgical technique for reconstruction to correct complications due to disastrous consequences of failed penile augmentation. RESULTS: A total of 16 patients aged 28-66 years (mean: 44.25 ± 2.63) were operated with a smile incision-modified technique from January 2017 until December 2020 in Semarang Dr. Kariadi tertiary hospital. There were no intraoperative complications observed. We found hematoma in 3 patients in a 1-week follow-up. After 2 weeks of post-operative surgery, all patients had no skin dehiscence or necrosis. Cosmetic appearance and functional improvement after reconstruction were acceptable by all patients. CONCLUSION: Penile paraffinoma reconstruction using the smile incision-modified technique was a feasible and effective technique to manage penile paraffinoma patients with good esthetic results and minor complications.
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Cuerpos Extraños , Enfermedades del Pene , Procedimientos de Cirugía Plástica , Masculino , Humanos , Enfermedades del Pene/cirugía , Enfermedades del Pene/etiología , Parafina , Pene/cirugía , Cuerpos Extraños/cirugíaRESUMEN
BACKGROUND: Our Multidisciplinary Team (MDT) is a large specialized team based in Semarang, Indonesia that cares for a wide variety of pediatric and adult individuals with Differences of Sex Development (DSD) from across Indonesia. Here we describe our work over the last 17 years. METHODS: We analyzed phenotypic, hormonal and genetic findings from clinical records for all patients referred to our MDT during the period 2004 to 2020. RESULTS: Among 1184 DSD patients, 10% had sex chromosome DSD, 67% had 46,XY DSD and 23% had 46,XX DSD. The most common sex chromosome anomaly was Turner syndrome (45,X) (55 cases). For patients with 46,XY DSD under-masculinization was the most common diagnosis (311 cases) and for 46,XX DSD a defect of Müllerian development was most common (131 cases) followed by Congenital Adrenal Hyperplasia (CAH) (116 cases). Sanger sequencing, MLPA and targeted gene sequencing of 257 patients with 46,XY DSD found likely causative variants in 21% (55 cases), with 13 diagnostic genes implicated. The most affected gene coded for the Androgen Receptor. Molecular analysis identified a diagnosis for 69 of 116 patients with CAH, with 62 carrying variants in CYP21A2 including four novel variants, and seven patients carrying variants in CYP11B1. In many cases these genetic diagnoses influenced the clinical management of patients and families. CONCLUSIONS: Our work has highlighted the occurrence of different DSDs in Indonesia. By applying sequencing technologies as part of our clinical care, we have delivered a number of genetic diagnoses and identified novel pathogenic variants in some genes, which may be clinically specific to Indonesia. Genetics can inform many aspects of DSD clinical management, and whilst many of our patients remain undiagnosed, we hope that future testing may provide answers for even more.
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Continuous ambulatory peritoneal dialysis (CAPD) is one of the modalities for renal replacement therapy in patients with stage 5 chronic kidney disease. There are various techniques and modifications, but there is no main reference for laparoscopic catheter insertion. One common complication related to CAPD is the malposition of the Tenckhoff catheter. In this study, the authors present a modified laparoscopic technique for insertion that can prevent malposition of the Tenckhoff catheter by using two plus one port. Material and method: A retrospective case series from the medical records at Semarang Tertiary Hospital was identified between 2017 and 2021. Demographic, clinical, intraoperative, and postoperative complication data were collected with a 1-year follow-up after the CAPD procedure. Results: This study included 49 patients with a mean age of 43.2±13.6 years, and diabetes was the main cause (51.02%). This modified technique showed no complications intraoperatively. The postoperative complications were found to include one case of hematoma (2.04%), eight cases of omental adhesion (16.3%), seven cases of exit-site infection (14.28%), and two cases of peritonitis (4.08%). Malposition of the Tenckhoff catheter was not found 1-year after the procedure. Conclusion: The two plus one port modified laparoscopic assisted CAPD technique could prevent malposition of the Teckhoff catheter because it is already fixated in the pelvic. A long-term follow-up of 5 years is necessary to know the long-term survival of the Tenckhoff catheter in the next study.
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Pelvic fracture urethral injury (PFUI) in pediatrics is rare, may involve the bladder neck, and may lead to obstruction and urinary incontinence as a lifelong disability. A 9-year-old female patient had a bladder neck injury related to PFUI after an accident when she was 6 years old and had urinary incontinence. In the previous hospital, the patient underwent appendicovesicostomy but the surgery failed. Continent ileocaecocystoplasty for a definitive treatment was done in our hospital involving the caecum, ileocaecal valve, and ileum. This procedure was delivered safely and brought a good result to the patient with no significant complications.
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Background: Complete androgen insensitivity syndrome (CAIS) is a congenital condition caused by genetic defects in the androgen receptor (AR) gene located on the X chromosome, which lead to a phenotypical female individual with a 46, XY karyotype. Early diagnosis of CAIS is essential for proper clinical management, allows assessment of familial risk and contributes to healthcare decisions. However, diagnosis of CAIS can be overlooked in girls with inguinal hernia, resulting in inappropriate management. Methods: Five female patients from three unrelated families presented to our genetic clinic with primary amenorrhea. Each patient had been diagnosed with inguinal hernia in childhood and had undergone hernia repair without further investigation into what was contained in the hernial sac. We carried out physical examination, cytogenetic studies, hormonal evaluation, and molecular analysis to establish a comprehensive diagnosis. Family history and pedigree were collated to identify at-risk family members. Results: All patients presented with female external genitalia. Cytogenetic studies revealed a 46, XY karyotype and hormonal analysis suggested a diagnosis of CAIS. Sequencing of the AR gene in all patients and suspected family members revealed pathogenic variants in the AR gene and confirmed the molecular diagnosis of CAIS. Conclusions: We report the delayed diagnosis of CAIS in female Indonesian patients with a history of inguinal hernia in childhood. An early diagnosis of CAIS is essential for appropriate clinical management, as well as assessing familial risk. Increasing awareness among clinicians is paramount, and we encourage a CAIS diagnosis to be considered in any patient presenting with female appearance and inguinal hernia.
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Síndrome de Resistencia Androgénica , Hernia Inguinal , Síndrome de Resistencia Androgénica/diagnóstico , Síndrome de Resistencia Androgénica/genética , Niño , Femenino , Hernia Inguinal/genética , Hernia Inguinal/cirugía , Herniorrafia , Humanos , Indonesia , Cariotipificación , MasculinoRESUMEN
OBJECTIVE: Indonesia has overcome several barriers to the growth of kidney transplantation within the past decade. Currently, the procedure is increasingly performed in several centers across the country. However there are limited publications on kidney transplantation from Indonesia, especially from centers outside Jakarta. This study aims to give a brief overview on transplantation performed, discuss current efforts and progresses of transplantation in Indonesia and chiefly Semarang. METHODS: Retrospective analysis of 20 transplant cases in Semarang during 2014-2018 was performed. Information from other transplant centers was acquired through formal correspondences with 11 central teaching hospitals in Jakarta, Surabaya, Yogyakarta, Malang, Bali, Solo, Palembang, Aceh, Medan, Bandung, and Padang. RESULTS: There were 629 recorded kidney transplantations performed in 12 centers, and we report on 245 cases with viable data. The average age of kidney recipients were younger (35.4 years old) compared to the donors (41.3 years old). Approximately half of the kidneys were obtained from related donors (49.0%) and there was only one case of cadaveric donor. The three leading etiologies of end-stage renal disease were hypertension (37.4%), diabetes mellitus (26.1%), and autoimmune disease (11.3%). There is only one center that has performed more than 100 kidney transplants in Indonesia. CONCLUSION: Indonesia has successfully overcome several major hurdles that had previously hindered the growth of transplantation. Further improvement should concentrate on the development of integrated organ transplant infrastructure, decentralization of transplant professionals, establishment of National kidney transplant database and changing the Nation's paradigm on cadaveric organ donor through public education.
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CONTEXT: Variants in bone morphogenetic protein 7 (BMP7) have been reported in patients with hypospadias. Here we report and analyze two variants in the BMP7 prodomain in monozygotic twins with hypospadias. MATERIALS AND METHODS: Patients with hypospadias were prospectively recruited. After informed consent was obtained, DNA was extracted from blood. The coding regions of 1034 genes [including 64 known diagnostic genes and candidate genes for disorder/difference of sex development (DSD)] were sequenced using a targeted capture approach (HaloPlex, Agilent, Santa Clara, CA), combined with massively parallel sequencing. The resulting variants were filtered for rarity in the general population (<1%) and in our screen. Quality, depth of the reads, and predicted pathogenicity were also considered. The consequences of the identified mutations on BMP7 expression was determined by Western blot analysis on culture media from transfected cells, and activity measured using a SMAD 1/5-responsiveness luciferase assay. RESULTS: We analyzed DNA from 46 patients with hypospadias. Two variants in BMP7 were identified in two pairs of monozygotic concordant twins exhibiting proximal hypospadias. Both variants are heterozygous, nonsynonymous, and affect highly conserved amino acids in the prodomain of BMP7 in regions predicted to be important for BMP7 assembly/folding. Functional analyses demonstrated that both variants disrupt BMP7 synthesis or secretion. CONCLUSION: Through our targeted DSD panel we have identified two variants in the prodomain of BMP7 in hypospadias. By decreasing BMP7 synthesis, these variants are likely to limit BMP7 bioavailability during closure of the urethral plate.Further analysis of patients with hypospadias may uncover additional variants that cause this DSD.
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Variants in the NR5A1 gene encoding SF1 have been described in a diverse spectrum of disorders of sex development (DSD). Recently, we reported the use of a targeted gene panel for DSD where we identified 15 individuals with a variant in NR5A1, nine of which are novel. Here, we examine the functional effect of these changes in relation to the patient phenotype. All novel variants tested had reduced trans-activational activity, while several had altered protein level, localization, or conformation. In addition, we found evidence of new roles for SF1 protein domains including a region within the ligand binding domain that appears to contribute to SF1 regulation of Müllerian development. There was little correlation between the severity of the phenotype and the nature of the NR5A1 variant. We report two familial cases of NR5A1 deficiency with evidence of variable expressivity; we also report on individuals with oligogenic inheritance. Finally, we found that the nature of the NR5A1 variant does not inform patient outcomes (including pubertal androgenization and malignancy risk). This study adds nine novel pathogenic NR5A1 variants to the pool of diagnostic variants. It highlights a greater need for understanding the complexity of SF1 function and the additional factors that contribute.
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Trastornos del Desarrollo Sexual/diagnóstico , Trastornos del Desarrollo Sexual/genética , Estudios de Asociación Genética , Variación Genética , Fenotipo , Factor Esteroidogénico 1/genética , Alelos , Secuencia de Aminoácidos , Trastorno del Desarrollo Sexual 46,XY/diagnóstico , Trastorno del Desarrollo Sexual 46,XY/genética , Femenino , Estudios de Asociación Genética/métodos , Genotipo , Humanos , Masculino , Modelos Anatómicos , Mutación , Conformación Proteica , Dominios Proteicos/genética , Sitios de Empalme de ARN , Análisis de Secuencia de ADN , Factor Esteroidogénico 1/químicaRESUMEN
Primary hyperaldosteronism is an adrenal abnormality in which there is some degree of autonomy of aldosterone secretion. We report a case of thirty three years old Javanese female presented with uncontrolled hypertension, muscular weakness, cramps and progressing shortness of breath during working for 6 years. She had history of hypertension since age 20. Her serum potassium level was always low that associated with inappropriate kaliuresis. Blood gas analysis revealed metabolic alkalosis. Sonography of the adrenal gland showed right hipoechoic architecture; CT scan of the abdomen confirmed an right adrenal tumor measured 4 cm in its greatest dimension. Endocrine evaluation revealed high plasma aldosterone concentration, suppressed plasma renin activity, aldosterone/renin ratio of 112 and confirmed the diagnosis of primary aldosteronism. She underwent unilateral adrenalectomy. Histopathological report from excised adrenal tumor were compatible to benign adrenocortical adenoma. The patient discharge home with well controlled blood pressure and normokalemia. No clinical symptoms was reported in follow-up.
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Neoplasias de las Glándulas Suprarrenales/diagnóstico por imagen , Adenoma Corticosuprarrenal/diagnóstico por imagen , Aldosterona/sangre , Hiperaldosteronismo/etiología , Hipertensión/etiología , Neoplasias de las Glándulas Suprarrenales/complicaciones , Neoplasias de las Glándulas Suprarrenales/cirugía , Adrenalectomía , Adenoma Corticosuprarrenal/complicaciones , Adenoma Corticosuprarrenal/cirugía , Adulto , Femenino , Humanos , Indonesia , Tomografía Computarizada por Rayos XRESUMEN
OBJECTIVE: The objective of this study was to determine the aetiological spectrum of disorders of sex development (DSD) in a large cohort of underprivileged and undiagnosed patients from Indonesia. METHODS: A total of 286 patients with atypical external and/or internal genitalia were evaluated using clinical, hormonal, molecular genetic and histological parameters. RESULTS: The age (years) at presentation was 0-0·5 in 41 (14·3%), >0·5-12 in 181 (63·3%) and >12 in 64 cases (22·4%). 46,XY DSD was most common (68·2%, n = 195), 46,XX DSD was found in 23·4% (n = 67) and sex chromosomal DSD in 8·4% (n = 24). In 61·2% of 46,XX DSD patients, 17·9% of 46,XY DSD patients and all sex chromosome DSD patients (29·4% in total), a final diagnosis was reached based on genetic or histological gonadal tissue evaluation. 17-hydroxyprogesterone and androstenedione levels were the most distinctive parameters in 46,XX DSD patients. In 46,XY DSD, diagnostic groups were identified based on the external masculinization score: androgen action disorder (AAD), unknown male undermasculinization (UMU), and gonadal dysgenesis (GD). LH, FSH and testosterone levels were most informative especially in the older age group. HCG tests were of no additional value as no patients with androgen synthesis disorders were found. Hormonal profiles of patients with sex chromosome DSD and a Y-chromosome sequence containing karyotype showed high levels of LH and FSH, and low levels of AMH, inhibin B and testosterone compared with the normal male range. Gene mutations were found in all patients with CAH, but in only 24·5% and 1·8% of patients with AAD and UMU. In 32% of 46,XY GD patients, copy number variants of different genes were found. CONCLUSION: A stepwise diagnostic approach led to a molecularly or histologically proven final diagnosis in 29·4% of the patients. The most informative parameters were serum levels of 17-hydroxyprogesterone and androstenedione in 46,XX DSD patients, and serum LH, FSH and testosterone levels in 46,XY DSD patients.
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Trastornos del Desarrollo Sexual/diagnóstico , Hormonas/sangre , 17-alfa-Hidroxiprogesterona/sangre , Adolescente , Factores de Edad , Androstenodiona/sangre , Niño , Preescolar , Trastornos del Desarrollo Sexual/sangre , Trastornos del Desarrollo Sexual/genética , Femenino , Hormona Folículo Estimulante/sangre , Genotipo , Disgenesia Gonadal 46 XY , Humanos , Indonesia , Lactante , Recién Nacido , Hormona Luteinizante/sangre , Masculino , Fenotipo , Cromosomas Sexuales/genética , Testosterona/sangreRESUMEN
AIMS: Caucasian patients with disorders of sex development (DSD) are at a high risk of developing germ cell cancer (GCC). GCC is prominent in young adults in Western countries, while the incidence is significantly lower in Asia. So far, the risk of GCC in Asian DSD patients is unknown. METHODS AND RESULTS: A detailed study of gonad histology , morphology and immunohistochemistry (OCT3/4, testis-specific protein Y-encoded, VASA, SCF/KITLG, SOX9, FOXL2) of 16 Indonesian DSD patients was undertaken. 13 cases could be analysed, including ovarian tissue (n=3), streak gonad (n=1), undifferentiated gonad (n=1) and testicular tissue (n=8), diagnosed as 46, XX (n=1), 46, XY (n=7) and sex chromosome DSD (n=5). The precursor lesion gonadoblastoma or carcinoma in situ, or GCC was diagnosed in four cases (30.8%; three 46, XY and one sex chromosome DSD ). A hormone producing ovarian Leydig cell tumour was identified in a 46, XX patient, supposed to be a late onset congenital adrenal hyperplasia. CONCLUSIONS: In spite of the significantly lower risk of GCC in the general Asian population, DSD is a dominant risk factor. The study demonstrates the power of immunohistochemical markers for (early) diagnosis. This knowledge will deepen understanding of the pathobiology of GCC and clinical handling of patients with DSD, globally.
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Trastornos del Desarrollo Sexual/diagnóstico , Neoplasias Ováricas/diagnóstico , Neoplasias Testiculares/diagnóstico , Adolescente , Adulto , Biomarcadores de Tumor/metabolismo , Carcinoma in Situ/diagnóstico , Niño , Preescolar , Comorbilidad , Trastornos del Desarrollo Sexual/epidemiología , Trastornos del Desarrollo Sexual/metabolismo , Diagnóstico Precoz , Femenino , Células Germinativas/metabolismo , Gonadoblastoma/diagnóstico , Humanos , Indonesia/epidemiología , Lactante , Masculino , Neoplasias Ováricas/epidemiología , Neoplasias Ováricas/metabolismo , Factores de Riesgo , Células del Estroma/metabolismo , Neoplasias Testiculares/epidemiología , Neoplasias Testiculares/metabolismo , Adulto JovenRESUMEN
Disorder of sex development (DSD) patients in Indonesia most often do not receive a proper diagnostic evaluation and treatment. This study intended to categorize 88 Indonesian patients in accordance with the new consensus DSD algorithm. Diagnostic evaluation including clinical, hormonal, genetic, imaging, surgical, and histological parameters was performed. Fifty-three patients were raised as males, and 34 as females. Of 22 patients with 46, XX DSD, 15 had congenital adrenal hyperplasia, while in one patient, an ovarian Leydig cell tumor was found. In all 58 46, XY DSD patients, 29 were suspected of a disorder of androgen action (12 with an androgen receptor mutation), and in 9, gonadal dysgenesis was found and, in 20, severe hypospadias e.c.i. Implementation of the current consensus statement in a resource-poor environment is very difficult. The aim of the diagnostic workup in developing countries should be to end up with an evidence-based diagnosis. This is essential to improve treatment and thereby to improve the patients' quality of life.