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1.
Pediatr Blood Cancer ; 66 Suppl 3: e27867, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31136081

RESUMO

AIM: We present the preliminary results of robotic-assisted laparoscopic (RAL) total and partial nephrectomy for renal malignant tumors in children. METHODS: This is a prospective study of patients operated with RAL between December 2016 and September 2018. Patients with Wilms tumors were treated according to the SIOP-2001 protocol. Patient and tumor characteristics, type of surgery, surgical-related morbidity, and oncologic outcomes were recorded. Results were compared with a series of patients with similar age- and tumor-related characteristics operated during the same period by an open surgical approach. RESULTS: Ten children underwent RAL nephrectomy with a mean age of five years (3.2-14.1 years). Total nephrectomy was done in six cases for Wilms tumor and in one case for renal sarcoma; three cases were converted. Complete removal of tumor without rupture was achieved in all cases. Postoperative course was uneventful, and patients were discharged between days 2 and 7. Neither recurrence nor medium-term complications occurred. Nine patients are alive with a median follow-up of 16 months (6-27 months) and one female died from complications of central nervous system metastases one year after surgery. When compared with the open surgical approach group, median tumor volume was smaller (P = 0.005), hospital stay was shorter (P = 0.01), and operative time was similar (P = 0.20). CONCLUSIONS: RAL total and partial nephrectomy procedure for renal tumor in children may be an option in carefully selected cases. Indication should be discussed at tumor boards and surgery performed while adhering strictly to oncological surgical rules.

2.
Artigo em Inglês | MEDLINE | ID: mdl-30371535

RESUMO

BACKGROUND: The 9q22.3 syndrome is an autosomal dominant microdeletion syndrome with similarities to Gorlin syndrome (GS). It encompasses the PTCH1 gene locus that harbors mutations for GS. Although the 9q22.3 syndrome is associated with Wilms tumor (WT), WT is not a GS-associated tumor, implying a different mechanism involving PTCH1, or a different locus in the 9q22.3 region. The goal of this study is to report the association between WT and 9q22.3 syndrome and review the outcome of treatment. OBSERVATIONS: We report 2 new cases of WT with 9q22.3 deletion and review the literature. Among the 44 described patients with 9q22.3 deletion, 7 developed WT (16%) at a mean age of 45 months (range, 4 to 84 mo). All patients had dysmorphic features, macrocephaly, and developmental delay, and there was an association with overgrowth (4/7). One patient had bilateral WT, another had a synchronous rhabdomyosarcoma. The outcome was excellent with all cases reported to be in complete remission. CONCLUSIONS: The 9q22.3 microdeletion syndrome should be considered at diagnosis of WT in children with dysmorphic features. Conversely, patients with a known 9q22.3 deletion syndrome should be considered for a WT predisposition surveillance program, especially those with overgrowth. The management should be individualized and given the excellent prognosis, and the unknown future risk of metachronous disease or other malignancy, the surgical approach should be carefully considered.

3.
J Pediatr Urol ; 14(3): 207, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29958638
4.
J Adolesc Young Adult Oncol ; 7(4): 509-513, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29733237

RESUMO

PURPOSE: Fertility preservation discussions with pediatric and adolescent cancer patients can be difficult for clinicians. This study describes the acceptability of a fertility clinician decision support system (CDSS). METHODS: A cross-sectional study of clinicians at The Royal Children's Hospital, Melbourne. Participants were trained on CDSS purpose, contents, and use. A survey captured the perceived benefits and weaknesses of the CDSS. RESULTS: Thirty-nine clinicians participated. Over 90% felt the CDSS aims and format were clear, and understood the components. Over 80% felt it would enable adherence to clinical pathways, policy, and standards of care. CONCLUSIONS: The CDSS provided significant perceived benefits to oncofertility care.

5.
J Pediatr Urol ; 14(2): 91, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29793745
6.
J Pediatr Urol ; 14(4): 327.e1-327.e7, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29705138

RESUMO

BACKGROUND: To reduce long-term morbidity (adhesions-related complications and impaired quality of life due to scars), laparoscopy has been used as an alternative to open surgery in Wilms tumours (WTs). However, concerns have been raised on the risk of local recurrence after this type of resection. OBJECTIVE: The aim was to determine the incidence of local recurrence after laparoscopic transperitoneal radical nephrectomy (LTRN). STUDY DESIGN: We analysed 18 local cases and conducted a review of the English literature in Pubmed from 2004 to 2017 with the following keywords: (Wilms OR nephroblastoma) AND (laparoscopy OR minimally invasive surgery) AND 2004:3000. The review was conducted according to PRISMA guidelines. Data were collected independently in duplicate in a preformed Excel database. Review articles and duplicated case reports were excluded. Patients with retroperitoneoscopic or nephron-sparing surgery were also excluded. RESULTS: One hundred and four LTRNs have been performed for WT with neoadjuvant chemotherapy in 93 cases. Tumour was ruptured preoperatively in three cases but never intraoperatively. The median volume of the tumour was 229.4 mL (3.8-776 mL). Local stage was specified in 86 cases: 49 stage I, 28 stage II, and nine stage III. Lymph nodes were sampled in 48 patients (median 2.3 [0-14] nodes). Histology was reported in 90 cases: 27 favourable and two unfavourable histology (COG); and six low, 50 intermediate, and five high-risk tumours (International Society of Paediatric Oncology). With a median follow-up of 20.5 months (1-114 months), there were four local recurrences (3.8%) at a median of 8.5 (7-9) months after surgery. Three tumours were initial local stage I (2 intermediate and 1 high risk) and one stage III. The results are presented in the Figure. DISCUSSION: The incidence of local recurrence after LTRN is 3.8%. This is lower than previously reported after open resection. However, tumours amenable to minimally invasive surgery are smaller, with higher numbers of low stage and standard histology. Additionally, the quality of the reports is suboptimal and follow-up is relatively short. CONCLUSION: LTRN does not seem to increase the incidence of local recurrence in WT but inclusion of patients in international protocols with prolonged and systematic follow-up is of utmost importance to carefully evaluate this risk.

7.
J Pediatr Urol ; 14(3): 253.e1-253.e8, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29501377

RESUMO

INTRODUCTION: Wilms' tumor now has a good overall prognosis with open radical nephrectomy having been the mainstay of surgical treatment. Recently laparoscopic nephrectomy (LN) has been growing in popularity. The aim of our study was to review our indications and outcomes for laparoscopic resections for Wilms' tumor and compare indications with International Society of Paediatric Oncology (SIOP) criteria for LN. MATERIAL AND METHODS: Patient demographics, preoperative management, surgical data, respect of SIOP criteria, complications, disease outcome, and follow-up were recorded on consecutive children who underwent nephrectomy for Wilms' tumor. RESULTS AND DISCUSSION: Fifty-four consecutive children with Wilms' tumor underwent a nephrectomy; 20 had a LN (Table). Nine of 20 (45%) patients who had LN did not meet SIOP criteria for LN. No patients had an intraoperative tumor rupture and one patient had positive margins because of preoperative rupture. There were two conversions: one caused by difficulty accessing the renal hilum and the other caused by difficulty maintaining oxygen saturations. There was one local recurrence. CONCLUSION: SIOP criteria are conservative and safe. Indications can be extended for teams experienced in surgical oncology and laparoscopy after agreement at a multidisciplinary meeting (MDM).

8.
J Pediatr Urol ; 14(1): 33-39, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29426576

RESUMO

OBJECTIVES: Primary female epispadias encompasses a spectrum of disease, presenting with a variable degree of incontinence. We hypothesized that although perineal urethrocervicoplasty can be a successful first-line procedure in patients with normal bladder, a more radical reconstruction was necessary to achieve continence in cases lying at the most severe end of the spectrum. Our aim was to assess the results of a surgical management using perineal approach in girls with normal bladder capacity, and Kelly radical soft-tissue mobilization (RSTM) in patients with inadequate bladder, based on the assumption that bladder capacity (BC) is a reliable marker of epispadias severity. STUDY DESIGN: Prospective inclusion of incontinent girls with female epispadias referred to a single institution. Patients with normal BC were treated with perineal urethrocervicoplasty (PUCP, group 1). Patients with small bladder underwent RSTM (group 2). Follow-up was at 1, 3, 6, and 12 months postoperatively, then annually, including physical examination, renal ultrasound at each visit, continence status, and estimation of functional/maximal BC. The main study outcome was continence status at the age of 5 years or later, if postoperative follow-up was >12 months. RESULTS: From 2006 to 2017, 16 consecutive children were prospectively included in this study, at a median age of 39 months (5-102 months). Seven girls were included in group 1 and underwent PUCP; at the last follow-up, five out of seven were dry by day (4/5 day and night), although three out of five required bladder-neck injection after perineal reconstruction due to stress incontinence. Two patients with persistent incontinence and absence of BC increase after PUCP subsequently underwent RSTM. Eleven patients with low BC (56% [10-94%] of expected BC) were included in group 2 (9 without prior surgery, 2 after PUCP failure). Among the eight evaluable patients, eight out of eight achieved diurnal continence, and 3/8 were fully continent. One girl with obstructive micturition required clean intermittent catheterization. DISCUSSION: The traditional approach of female epispadias based on staged reconstruction (urethroplasty followed by bladder-neck reconstruction) raised concerns regarding the risk of non-physiological obstructive micturition. The perineal approach was suggested as an alternative, with reported diurnal continence rates of 60-80%, but less than 50% of nocturnal continence, presumably in relation with limited bladder capacity. In cases selected within the most severe end of the epispadias spectrum, the Kelly RSTM seems to offer excellent continence rates. CONCLUSION: A tailored approach to female epispadias, based on perineal reconstruction in favorable cases, and radical soft-tissue mobilization in severe cases, seems to yield good continence outcomes in the long term.

9.
J Urol ; 199(5): 1335-1336, 2018 May.
Artigo em Inglês | MEDLINE | ID: mdl-29406273
10.
J Pediatr Urol ; 14(1): 63.e1-63.e6, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29102298

RESUMO

INTRODUCTION: Prader-Willi syndrome (PWS) is a rare (1:20.000) genetic condition affecting both males and females. Among other features, in boys, the syndrome is characterized by cryptorchidism in 86-100% of cases, hypogonadism, delayed puberty and infertility. The aim of the present study is to appraise the results of orchidopexy in this selected population of children. STUDY DESIGN: A follow-up study of children with PWS treated for undescended testes at a single institution over a 20-year period was performed. Patients were identified from a National PWS registry and reviewed at a special follow-up clinic. Data were collected from electronic and hard copies records and reported as median (range). RESULTS: Thirty-three children (1-17 years) were identified. Co-morbidities were present in 22 (66%) and 15 (45%) were on growth-hormone therapy. Six patients (19%) had normal testes palpable in the scrotum; twenty-seven (81%) had undescended testes and required orchidopexy. Thirteen (48%) underwent a bilateral procedure for a total of 40 procedures. A 2-stage Fowler-Stephens orchidopexy was required in 2 (7%) testes. At surgery hypotrophic testes were documented in 6 (22%) patients. Age at orchidopexy was 1.4 years (0.5-5.5). Age at FU was 7.2 years (1.7-17). Length of follow-up is 3.5 years (0.4-14). At follow-up 16 (40%) testes were of normal size and palpable in the scrotum; 7 (17.5%) testes required redo-orchidopexy. All patients (6/33) over 16 years of age that had testosterone levels tested had values below normal limits after successful orchidopexy. CONCLUSIONS: This study evaluates the results of orchidopexy in a large population of children with PWS. At follow-up, only 40% of testes were of normal size and in the scrotum. This information should be taken into consideration for patients' management and pre-operative parents' counseling.

11.
J Pediatr Urol ; 13(6): 555-556, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29248272
13.
Pediatr Surg Int ; 33(10): 1131-1137, 2017 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-28856414

RESUMO

PURPOSE: The purpose of the study was to determine if there were differences in the complication rates between foreskin reconstruction (FR) and circumcision (CIRC) in distal hypospadias repairs. The primary outcomes were urethrocutaneous fistula (UF) and dehiscence. METHODS: The data of distal hypospadias operated between 2005 and 2013 were retrospectively reviewed. The inclusion criteria were any distal hypospadias repair that required an urethroplasty. The exclusion criteria were follow-up <1 year, redo procedures, chordee greater than 20°, and incomplete data. Univariate and multivariate analysis was performed on the results. RESULTS: 213 patients were included (95 FR and 118 CIRC). The 2 groups were comparable for age at surgery 19.32 months in FR and 14.25 months in CIRC. Mathieu repair was more common in FR (47/95-49.47%) than in CIRC (45/118-38.14%). The total subsequent procedures required were 23 in FR and 57 in CIRC. The incidence of UF was 6.3% (6/95) in FR and 27.1% (32/118) in CIRC (p < 0.001, OR 5.52, 95% CI 2.2-13.9). Complete dehiscence rates were 3.16% (3/95) FR vs 11.02% (13/118) for CIRC (p = 0.037, OR 3.8, 95% CI 1.05-13.74). The incidence of patients requiring reoperation was 18.9% (18/95) in FR versus 45.8% (54/118) in CIRC (p < 0.001, OR 3.61, 95% CI 1.93-6.76). CONCLUSIONS: Foreskin Reconstruction conferred a significantly lower rate of complications, particularly the UF rate, dehiscence rate, and number of patients that required reoperation. Our rate of complications in the CIRC group is much higher than other published data.


Assuntos
Circuncisão Masculina/métodos , Prepúcio do Pênis/cirurgia , Hipospadia/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Procedimentos Cirúrgicos Urológicos Masculinos/métodos , Criança , Pré-Escolar , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do Tratamento , Uretra/cirurgia
15.
Clin Endocrinol (Oxf) ; 87(3): 279-285, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28504866

RESUMO

BACKGROUND: Advances in cancer treatment have led to improved long-term survival after childhood cancer, but often at a price of impaired future fertility. Fertility preservation (FP) in male children and early adolescents poses unique challenges as efficacy is unproven. OBJECTIVES: To describe characteristics of testicular tissue cryopreservation (TTCP) specimens taken from paediatric and adolescent patients, stratified by age, and prior chemotherapy, if any, and to demonstrate evidence for germ cells. MATERIALS AND METHODS: Retrospective review of gonadal biopsies and clinical records of patients consented into the Royal Children's Hospital FP programme between 1987 and 2015. Tissue was sliced into blocks, with one section sent for histopathology prior to cryopreservation. In boys ≥12 years where spermatogenesis could be expected, a portion of tissue was disaggregated completely to look for mature sperm and if found, additional tissue was dissected and the resulting suspension frozen. RESULTS: Testicular tissue cryopreservation specimens in 44 males (0.3-16.8 years) provided an average of 7.8 slices per patient. All the specimens were taken at the same time as another necessary surgical procedure, under one general anaesthesic. There was only one complication of scrotal wound dehiscence. Seven of the forty-four (15.9%) patients had chemotherapy prior to testicular biopsy, while the rest were chemotherapy naïve. Five of these were prepubertal, and two were pubertal patients. Eleven subjects had tissue dissected with mature sperm found in eight. Of these eight patients where sperm were found, all were pubertal with testicular size of more than 10 mL and showing histological evidence of spermatogenesis. No histologic specimen demonstrated any malignant cells. CONCLUSIONS: Testicular tissue cryopreservation can be performed in young patients without delay, preferably prior to cancer treatment. As testicular tissue contains germ cells from which haploid spermatozoa are ultimately derived, future technologies may allow their utilization for fertility in humans. This may be the only hope for biological offspring in some patients undergoing fertility compromising treatment. Retrieval of mature sperm from some pubertal patients, however, offers realistic hope to these patients of future fertility.


Assuntos
Preservação da Fertilidade/métodos , Neoplasias/complicações , Adolescente , Antineoplásicos/efeitos adversos , Criança , Pré-Escolar , Criopreservação/métodos , Humanos , Lactente , Infertilidade Masculina/induzido quimicamente , Masculino , Neoplasias/tratamento farmacológico , Estudos Retrospectivos , Espermatogênese , Espermatozoides , Testículo/citologia
17.
J Pediatr Urol ; 13(2): 158-163, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28238607

RESUMO

INTRODUCTION: Leydig cell hyperplasia (LCH) and Leydig cell tumours (LCTs) in children are rare, typically presenting with precocious puberty. Previously, orchidectomy was the routine management; however, more recently, testis-sparing surgery has been performed with good results. We present a series of unusual presentations of LCH, raising new management questions, and a review of the literature regarding LCH and LCT in children. STUDY DESIGN: We performed a literature search using Ovid Medline, PubMed, and Google Scholar, producing 456 articles. We reviewed all case reports and series containing paediatric patients, and relevant review articles. RESULTS: We report three cases of LCH, two of which were incidental findings. All three cases underwent testis-sparing surgery. In the literature there were seven cases of LCH and 101 cases of LCT in prepubertal children. The most common presentation was with precocious puberty. Three cases of LCH and more than two-thirds of LCTs were managed with orchidectomy and overall only 11% of the cases underwent testes-sparing surgery (24% did not specify operative management). There were no reports of recurrence or malignancy. DISCUSSION: Our case series presents three new clinical presentations of LCH that have not previously been reported in the literature: one of incomplete precocious puberty and two with incidental findings on ultrasound in asymptomatic children. Historically, children with the classic presentation of precocious puberty and a testicular lesion have been managed with orchidectomy. Nowadays, many clinicians advocate testes-sparing surgery given there have been no cases of malignancy. In children with no clinical or biochemical signs of precocious puberty, lesions identified on ultrasound can be safely monitored for a period of time. However, if the lesion does not regress, excisional biopsy is recommended to establish the diagnosis, ideally before the onset of puberty. CONCLUSION: Leydig cell hyperplasia and tumours in pre-pubertal children are benign. Testes-sparing surgery with regular follow-up appears to be safe management.


Assuntos
Tumor de Células de Leydig/patologia , Tumor de Células de Leydig/cirurgia , Células Intersticiais do Testículo/patologia , Tratamentos com Preservação do Órgão/métodos , Neoplasias Testiculares/patologia , Neoplasias Testiculares/cirurgia , Biópsia por Agulha , Criança , Pré-Escolar , Diagnóstico Diferencial , Humanos , Hiperplasia/patologia , Imuno-Histoquímica , Tumor de Células de Leydig/diagnóstico por imagem , Masculino , Invasividade Neoplásica/patologia , Estadiamento de Neoplasias , Orquiectomia/métodos , Prognóstico , Doenças Raras , Amostragem , Análise de Sobrevida , Neoplasias Testiculares/diagnóstico por imagem , Resultado do Tratamento , Ultrassonografia Doppler/métodos
18.
J Pediatr Surg ; 52(3): 469-472, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27707652

RESUMO

BACKGROUND: Effective bladder emptying by clean intermittent catheterization for children with severe bladder dysfunction is critical for renal preservation and social integration. Use of a continent catheterizable conduit (CCC) as urethral alternative procedure provides effective bladder drainage. However, it brings a substantive maintenance. METHODS: Retrospective review of the indications and long-term outcomes of 54 patients with a Mitrofanoff procedure in a single center over a 20-year period (1995-2015). RESULTS: Indications of CCC include 21 neurogenic bladders, 12 patients with epispadias/exstrophy, 13 bladder outlet obstruction, 6 malignancies and 2 cloaca. Median age at surgery was 8.3years (4months-20years). The appendix was used in 76% of cases. Most frequently encountered complication was stomal stenosis (n=17/34, 50%), occurring at median time of 9months (2months-13years). The other complications were: leakage in 9 (26.5%); conduit stricture in 5 (14.7%), angulation of the conduit in 2 (5.8%) and prolapse in one (3%). Operative revision was encountered by 33 (61%) patients, the majority in the first 2years. Median follow-up was 4.3years (3months-16years). CONCLUSIONS: CCC has a high incidence of complication. It has to be used only when the native urethra is not suitable for catheterization. Carers, patients and families must be prepared to deal with both the complexity of index conditions and the complications of this procedure.


Assuntos
Epispadia/cirurgia , Obstrução do Colo da Bexiga Urinária/cirurgia , Bexiga Urinaria Neurogênica/cirurgia , Cateterismo Urinário/métodos , Derivação Urinária/métodos , Adolescente , Apêndice/cirurgia , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Masculino , Complicações Pós-Operatórias , Estudos Retrospectivos , Resultado do Tratamento , Coletores de Urina/efeitos adversos , Adulto Jovem
19.
J Paediatr Child Health ; 53(4): 386-390, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-27862592

RESUMO

AIM: The aim of the study is to investigate the effectiveness of Peristeen retrograde continence enema (RCE) in the management of faecal incontinence in children with spina bifida. METHODS: We identified a homogenous group of spina bifida patients in whom RCE was initiated (Jan 2006-July 2013). Confidential assessments included (i) Fecal Incontinence Quality Of Life (FIQOL), (ii) St Marks Faecal Incontinence score, (iii) Cleveland Clinic Constipation score and (iv) Neurogenic Bowel Dysfunction score. RESULTS: Of 20 patients, 11 (mean age 14.5 ± 5.3 years) were male. Of 20 patients, nine were still using RCE (mean follow-up 4.1 years). Three patients ceased RCE within 10 days, six after 4-12 months and two after 36-48 months. Reasons for cessation included balloon difficulties (n = 4), procedure deemed too difficult (n = 4) and pain (n = 3). There were no differences between the groups in length of training time for technique, instillate fluid/volume used and time taken to perform RCE. There were no differences between the groups for quality of life, faecal incontinence or constipation scores. CONCLUSIONS: We demonstrated a high rate of cessation with RCE in patients with spina bifida. This could not be explained by associated conditions, or by enema-related parameters. One possible explanation is the lack of ongoing outpatient support for the children and their families.


Assuntos
Incontinência Fecal/etiologia , Disrafismo Espinal/complicações , Adolescente , Incontinência Fecal/terapia , Feminino , Humanos , Entrevistas como Assunto , Masculino , Avaliação de Resultados (Cuidados de Saúde) , Pesquisa Qualitativa , Qualidade de Vida , Adulto Jovem
20.
Genome Biol ; 17(1): 243, 2016 11 29.
Artigo em Inglês | MEDLINE | ID: mdl-27899157

RESUMO

BACKGROUND: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively parallel sequencing targeted DSD gene panel which allows us to sequence all 64 known diagnostic DSD genes and candidate genes simultaneously. RESULTS: We analyzed DNA from the largest reported international cohort of patients with DSD (278 patients with 46,XY DSD and 48 with 46,XX DSD). Our targeted gene panel compares favorably with other sequencing platforms. We found a total of 28 diagnostic genes that are implicated in DSD, highlighting the genetic spectrum of this disorder. Sequencing revealed 93 previously unreported DSD gene variants. Overall, we identified a likely genetic diagnosis in 43% of patients with 46,XY DSD. In patients with 46,XY disorders of androgen synthesis and action the genetic diagnosis rate reached 60%. Surprisingly, little difference in diagnostic rate was observed between singletons and trios. In many cases our findings are informative as to the likely cause of the DSD, which will facilitate clinical management. CONCLUSIONS: Our massively parallel sequencing targeted DSD gene panel represents an economical means of improving the genetic diagnostic capability for patients affected by DSD. Implementation of this panel in a large cohort of patients has expanded our understanding of the underlying genetic etiology of DSD. The inclusion of research candidate genes also provides an invaluable resource for future identification of novel genes.


Assuntos
Aberrações Cromossômicas , Transtornos do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/genética , Sequenciamento de Nucleotídeos em Larga Escala , Estudos de Coortes , Transtornos do Desenvolvimento Sexual/patologia , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Variação Genética , Gônadas/crescimento & desenvolvimento , Gônadas/patologia , Humanos , Masculino , Mutação/genética , Ovário/crescimento & desenvolvimento , Ovário/patologia , Linhagem , Fenótipo , Testículo/crescimento & desenvolvimento , Testículo/patologia
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