scholarly journals Long-Term Evaluation of Patients Undergoing Genitoplasty due to Disorders of Sex Development: Results from a 14-Year Follow-Up

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Heng Zhang ◽  
Jinhong Pan ◽  
Huixiang Ji ◽  
Yongquan Wang ◽  
Wenhao Shen ◽  
...  
Author(s):  
David F.M. Thomas

The aetiology of disorders of sex development (DSD) is multifactorial and includes chromosomal defects, developmental abnormalities of the gonads, and defects of hormonal synthesis and expression. Infants born with ambiguous genitalia require urgent investigation because of the risk of hyponatraemia associated with congenital adrenal hyperplasia (CAH) and to permit an informed decision on gender assignment. CAH is the commonest form of DSD, accounting for around 80% of all infants born with ambiguous genitalia. Despite controversy regarding timing and consent, feminizing genitoplasty in early childhood remains the accepted management for girls with significant clitoromegaly. Surgical reconstruction for 46XY DSD is guided by several factors, notably the size of the phallus and gonadal phenotype. The majority of individuals with disorders of sex development will require ongoing specialist care and long-term multidisciplinary follow-up and support.


2019 ◽  
Vol 5 (1) ◽  
pp. 25
Author(s):  
Nurin Aisyiyah Listyasari ◽  
Iit Fitrianingrum ◽  
Sultana MH Faradz

Background:Chromosomal mosaicism is characterized by the presence of two or more distinct cell lines in an individual. Mosaicism in sex chromosome is a major component of Disorders of Sex Development (DSD) results in a large clinical spectrum of genital ambiguity.                               Case Presentation:We report long term follow-up of a 15-year-old male who was evaluated for ambiguous genitalia with a karyotype of 46,XY (85%) / 46,XX (15%). He presented with abnormal urethral opening (hypospadias) and left sided undescended testis since birth. Work-up was done for cytogenetic analysis, hormonal assays, imaging, exploratory laparotomy, and hypospadias repair. For more than 15 years he was reared as a boy, with no further complaints, until he reached puberty. He then developed gynecomastia and monthly painful hematuria. MRI evaluation revealed a left adnexal cystic mass and anteflexed uterus with loculated fluid collection posterior to urinary bladder suggesting hematometra. We discuss the genetics, diagnostics, as well as genetic counseling of this patient. Conclusion: This case is reported in view of the interesting clinical presentation of this rare mosaicism. A strong emphasis on a multidisciplinary approach and close follow-up is important to ensure both physical and psychological well-being of DSD patients.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Shahla Safari ◽  
Maryam Abdoli ◽  
Masoud Amini ◽  
Ashraf Aminorroaya ◽  
Awat Feizi

AbstractThis study aimed to evaluate the patterns of changes in obesity indices over time in prediabetic subjects and to classify these subjects as either having a low, moderate, and high risk for developing diabetes in the future. This study was conducted among 1228 prediabetics. The patterns of changes in obesity indices based on three measurements including first, mean values during the follow-up period, and last visit from these indices were evaluated by using the latent Markov model (LMM). The mean (standard deviation) age of subjects was 44.0 (6.8) years and 73.6% of them were female. LMM identified three latent states of subjects in terms of change in all anthropometric indices: a low, moderate, and high tendency to progress diabetes with the state sizes (29%, 45%, and 26%), respectively. LMM showed that the probability of transitioning from a low to a moderate tendency to progress diabetes was higher than the other transition probabilities. Based on a long-term evaluation of patterns of changes in obesity indices, our results reemphasized the values of all five obesity indices in clinical settings for identifying high-risk prediabetic subjects for developing diabetes in future and the need for more effective obesity prevention strategies.


2005 ◽  
Vol 33 (8) ◽  
pp. 1220-1223 ◽  
Author(s):  
Joseph R. Carney ◽  
Timothy S. Mologne ◽  
Michael Muldoon ◽  
Jay S. Cox

Background Few published articles exist reporting the long-term evaluation of the Roux-Elmslie-Trillat procedure. Purpose To assess the long-term effect of the Roux-Elmslie-Trillat procedure in preventing recurrent subluxation and dislocation of the patella. Study Design Case series; Level of evidence, 4. Methods Eighteen patients who underwent the Roux-Elmslie-Trillat procedure for dislocation or subluxation of the patella were identified from a group previously evaluated at a mean follow-up of 3 years. The prevalence of recurrent subluxation or dislocation at a mean follow-up of 26 years was compared with the prevalence reported at the mean follow-up of 3 years. Although not the focus of this study, Cox functional scores were obtained from the smaller group and compared with the results at the 3-year follow-up. Results Seven percent (95% confidence interval, 0.00-0.32) of the patients had recurrent subluxation at 26 years compared with 7% (95% confidence interval, 0.03-0.13) of the study population reported at 3 years (P = 1.00). Fifty-four percent (95% confidence interval, 0.27-0.79) rated their affected knee as good or excellent at 26 years compared with 73% (95% confidence interval, 0.64-0.81) of the larger study population reported at 3 years (P = .14). Conclusion The prevalence of recurrent subluxation and dislocation in patients with patellofemoral malalignment who underwent the Roux-Elmslie-Trillat procedure for dislocation or subluxation of the patella is similar at 3 and 26 years after the procedure. The long-term functional status of the affected knee in patients who underwent the Roux-Elmslie-Trillat procedure declined.


2009 ◽  
Vol 27 (32) ◽  
pp. 5350-5355 ◽  
Author(s):  
Odile Oberlin ◽  
Oumaya Fawaz ◽  
Annie Rey ◽  
Patrick Niaudet ◽  
Vita Ridola ◽  
...  

PurposeIfosfamide is widely used in pediatric oncology but its nephrotoxicity may become a significant issue in survivors. This study is aimed at evaluating the incidence of late renal toxicity of ifosfamide and its risk factors.Patients and MethodsOf the 183 patients prospectively investigated for renal function, 77 treated for rhabdomyosarcoma, 39 for other soft tissue sarcoma, 39 for Ewing's sarcoma, and 28 for osteosarcoma were investigated at least 5 years after treatment. No patients had received cisplatin and/or carboplatin. Glomerular and tubular functions were graded according to the Skinner system.ResultsThe median dose of ifosfamide was 54 g/m2(range, 18 to 117 g/m2). After a median follow-up of 10 years, 89.5% of patients had normal tubular function, and 78.5% had normal glomerular function rate (GFR). Serum bicarbonate and calcium were normal in all patients. Hypomagnesemia was observed in 1.2% and hypophosphatemia in 1%. The tubular threshold for phosphate was reduced in 24% of the patients (grade 1 in 15%, grade 2 in 8%, and grade 3 in 0.5%). Glycosuria was detected in 37% of the patients but was more than 0.5 g/24 hours in only 5%. Proteinuria was observed in 12%. Ifosfamide dose and interval from therapy to investigations were predictors of tubulopathy in univariate and multivariate analysis. In a multivariate analysis, an older age at diagnosis and the length of interval since treatment had independent impacts on the risk of abnormal GFR.ConclusionRenal toxicity is moderate with a moderate dose of ifosfamide. However, since it can be permanent and can get worse with time, repeated long-term evaluations are important, and this risk should be balanced against efficacy.


2010 ◽  
Vol 184 (3) ◽  
pp. 1122-1127 ◽  
Author(s):  
Maria Helena Palma Sircili ◽  
Frederico Arnaldo de Queiroz e Silva ◽  
Elaine M.F. Costa ◽  
Vinicius N. Brito ◽  
Ivo J.P. Arnhold ◽  
...  

2019 ◽  
Vol 64 (No. 02) ◽  
pp. 84-91
Author(s):  
SY Kim ◽  
JY Kim ◽  
SW Jeong

Autologous lamellar corneal grafts were performed on four dogs with two deep corneal ulcers and two corneal perforations to achieve better visual and aesthetic outcomes. The donor corneal graft was harvested from the relatively normal corneal region of the affected eye and used to cover the corneal defect. At the two-year follow-up examination, ultrasound biomicroscopy was performed to confirm the thickness and endothelial continuity of the transplanted grafts and donor site of the cornea. The evaluations revealed that the dogs had healed without incident and that their vision had been maintained. Furthermore, the owners were satisfied with the aesthetic outcomes in all cases. Our findings show that autologous lamellar corneal grafts are useful and effective in treating canine corneal ulcers and perforations.


1994 ◽  
Vol 19 (3) ◽  
pp. 373-377 ◽  
Author(s):  
E. J. F. TIMMENGA ◽  
T. J. BLOKHUIS ◽  
M. MAAS ◽  
E. L. F. B. RAAIJMAKERS

18 patients with Bennett’s fracture were evaluated after a mean follow-up period of 10.7 years. Treatment consisted of closed reduction and K-wire fixation in seven cases and open reduction with osteosynthesis in 11 cases. Overall, symptoms were few and restricted mobility of the thumb could not be demonstrated. The strength of the affected hand was decreased in all patients regardless of the type of treatment. Osteoarthritis was found to correlate with the quality of reduction of the fracture, but had developed in almost all cases even after exact reduction. Exact reduction, either by the open or closed method, should be the aim of treatment of Bennett’s fracture.


2004 ◽  
Vol 4 ◽  
pp. 512-516 ◽  
Author(s):  
Stephanie Logsdon ◽  
Jessica Richards ◽  
Hatim A. Omar

The transdermal contraceptive patch, Ortho Evra™, was approved in December 2001 and released on the market in June 2002. In this study, we reviewed clinical data of young women who started the patch between June 2002 and December 2003 in the adolescent medicine clinic at a university-based outpatient center. A total of 62 patients started the patch in that period and two of them were lost to follow-up. Mean age of patients was 17.9 years and mean length of use was 10 cycles. Only 10 patients (16.7%) discontinued use. Reasons for discontinuation were moderate to severe skin irritation (3 patients, 5%), complete detachment (3 patients, 5%), and economic reasons (4 patients, 6.7%). Compliance was excellent overall and the side-effects profile was good. No pregnancies occurred during this period. These results confirmed that the transdermal contraceptive patch is easy to use and an effective method of birth control that may be better tolerated by young women. It also seemed to improve contraceptive compliance in this population.


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