scholarly journals A long-term follow-up of Sex Chromosomal Mosaicism Disorders of Sex Development

2019 ◽  
Vol 5 (1) ◽  
pp. 25
Author(s):  
Nurin Aisyiyah Listyasari ◽  
Iit Fitrianingrum ◽  
Sultana MH Faradz
Keyword(s):  
Sex Chromosome ◽  
Fluid Collection ◽  
Disorders Of Sex Development ◽  
Well Being ◽  
Chromosomal Mosaicism ◽  
Sex Development ◽  
Genital Ambiguity ◽  
Long Term Follow Up

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.

Disorders of sex development

2017 ◽  
Author(s):  
David F.M. Thomas
Keyword(s):  
Disorders Of Sex Development ◽  
Ambiguous Genitalia ◽  
Surgical Reconstruction ◽  
Adrenal Hyperplasia ◽  
Specialist Care ◽  
Gender Assignment ◽  
Developmental Abnormalities ◽  
Sex Development

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.

scholarly journals Antiretroviral Drug-Associated Oral Lichenoid Reaction in HIV Patient: A Case Report

2010 ◽  
Vol 2010 ◽  
pp. 1-4 ◽  
Author(s):  
Pratanporn Arirachakaran ◽  
Mattana Hanvanich ◽  
Piyanad Kuysakorn ◽  
Kobkan Thongprasom
Keyword(s):  
Well Being ◽  
Fluocinolone Acetonide ◽  
First Case ◽  
Oral Pain ◽  
Antiretroviral Drug ◽  
Long Term Follow Up ◽  
Subsequent Withdrawal

Antiretroviral therapy has changed the course of HIV disease and improved quality of life in HIV patients. Incidence of an oral lichenoid drug reaction induced by zidovudine is not common. Once it occurs, it affects a patient's well being, in particular their oral functions. Here we report the first case of a 34-year-old Thai man with painful erosive lesions involving the lip and buccal mucosa. Treatment with topical fluocinolone acetonide 0.1% alleviated the patient's oral pain, but it was not until the subsequent withdrawal of zidovudine that the patient showed improvement and resolution of the lesions. Long-term follow-up was useful in the management of this patient, and no recurrence of the lesion was found during 21-month follow-up in this patient.

Long-term follow-up of a child with Klinefelter syndrome and achondroplasia from infancy to 16 years

2017 ◽  
Vol 30 (7) ◽  
Author(s):  
Jessica D. Arditi ◽  
Loretta Thomaidis ◽  
Helen Frysira ◽  
Artemis Doulgeraki ◽  
George P. Chrousos ◽  
...  
Keyword(s):  
Sex Chromosome ◽  
De Novo ◽  
Klinefelter Syndrome ◽  
Pubertal Development ◽  
Pediatric Endocrinology ◽  
Case Presentation ◽  
Long Term Follow Up ◽  
Chromosome Disorder

AbstractBackground:Achondroplasia (ACH), an autosomal dominant skeletal dysplasia, occurs in approximately 1:20,000 births. On the other hand, 47,XXY aneuploidy (Klinefelter syndrome [KS]) is the most common sex chromosome disorder, with a prevalence of approximately 1:600 males. To the best of our knowledge, only five cases of patients presenting both ACH and KS have been reported to date in the international literature. However, none of these cases has been longitudinally followed during the entire childhood.Case presentation:We report a male patient with ACH and KS, diagnosed in early infancy because of his typical phenotype of ACH. The diagnosis was confirmed by molecular analysis revealing a de novo heterozygous 1138 G-to-A mutation of theConclusions:This is the first reported case with both conditions that was diagnosed in infancy and was longitudinally followed by a pediatric endocrinology team regularly, from infancy to late adolescence. With a typical phenotype of ACH, it is striking and noteworthy that he did not develop the classical endocrine complications of a child with KS, neither did he necessitate testosterone supplementation during his pubertal development, due to his normal virilization and testosterone levels.

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 ◽  
...  
Keyword(s):  
Disorders Of Sex Development ◽  
Sex Development ◽  
Term Evaluation

scholarly journals HYPOSPADIAS: LONG TERM FOLLOW-UP IN A SINGLE CENTER

2016 ◽  
Vol 7 (1) ◽  
Author(s):  
F. Molinaro ◽  
R. Angotti ◽  
E. Bindi ◽  
M. Sica ◽  
M. Aglianò ◽  
...  
Keyword(s):  
Postoperative Complications ◽  
Intraoperative Complications ◽  
Surgical Techniques ◽  
Clinical Manifestations ◽  
Disorders Of Sex Development ◽  
Complex Disorders ◽  
Aesthetic Appearance ◽  
Long Term Follow Up

<em>Introduction</em>: Hypospadias is one of the most common birth defects that affect the male urogenital tract. It can present as isolated anomaly, but sometimes can arise in the context of complex disorders of sex development (DSD). These malformations are characterized by a great variety of clinical manifestations and compromise the aesthetic appearance, but also functional and psychological impact that the malformation can determine the patient. <br /><em>Materials and Methods</em>: We conducted a retrospective study of patients undergoing surgery for hypospadias from March 2000 to January 2015. The data was extrapolated from a prospective database. It was considered for each patient: demographics; type of hypospadias; surgical technique; average age for surgery; intraoperative and postoperative complications (early and late). Duckett’s classification was used. <br /><em>Results</em>: 343 urethroplasties were performed. 320 (93%) were primary urethroplasties and 23 (7%) reoperations in patients who had performed many other surgical procedures. 7 patients with megameatus were excluded. The hypospadias have been ranked according to Duckett’s classification, 35 patients had associated diseases. In total were performed: 186 (55%) Snodgrass, 71(21%) Duckett,10 (3%) augmented Duckett, 42 (13%) Magpi, 16 (5%) Duplay, 1 (0,3%) Bracka, 1 (0,3%) was a Bianchi’technique and 5 (1,4%) were Standoli. In 4 patients (1%) were used mixed technique. There were no intraoperative complications. The mean age at surgery was 15 months (range 12-22 months). Postoperative complications were 12%. Long term follow up was done with uroflussimetrie at 3 and 6 months in those who had reached the continence and possible urethral calibrations in those who had submitted a stenosis in post-op.<br /><em>Conclusions</em>: The improvement of surgical techniques, the use of optical amplification tools, the use of suture material (PDS) and the experience gained in recent years have enabled us to optimized the results. Though aware of the potential and actual complications that this type of microsurgical correction can lead to the results we have obtained are comparable to those of major international series and can be considered satisfactory, both from an aesthetic and functional.

Management of subarachnoid fluid collection in infants based on a long-term follow-up study

1996 ◽  
Vol 138 (2) ◽  
pp. 179-184 ◽  
Author(s):  
K. Nishimura ◽  
K. Mori ◽  
T. Sakamoto ◽  
K. Fujiwara
Keyword(s):  
Fluid Collection ◽  
Follow Up Study ◽  
Long Term Follow Up ◽  
Subarachnoid Fluid Collection

Neurocognitive outcomes in children following immersion: a long-term study

2018 ◽  
Vol 103 (8) ◽  
pp. 784-789
Author(s):  
Maria Patricia Manglick ◽  
Frank I Ross ◽  
Mary-Clare Waugh ◽  
Andrew J A Holland ◽  
Daniel T Cass ◽  
...  
Keyword(s):  
Executive Function ◽  
Well Being ◽  
Near Drowning ◽  
Long Term Study ◽  
Neurocognitive Outcomes ◽  
Behavior Rating Inventory ◽  
Long Term Follow Up ◽  
Discharge From Hospital

ObjectiveTo investigate long-term neurocognitive outcomes after a near-drowning incident in children who were deemed neurologically intact on discharge from hospital.DesignA prospective cohort study of near-drowning children.Setting95 drowning and near-drowning admissions, 0–16 years of age, from January 2009 to December 2013, to The Children’s Hospital at Westmead, Sydney, NSW, Australia.Participants23 children both met the criteria and had parental consent for the study.Main outcome measuresIdentification of the long-term deficits in behaviour, executive function, motor skills, communicative skills and well-being over a 5-year period. Assessment was undertaken at 3–6 months, 1 year, 3 years and 5 years after near-drowning at clinic visits. Physical developmental screening and executive function screening were done using Behavior Rating Inventory of Executive Function-Preschool version (BRIEF-P) and BRIEF.Result95 drowning and near-drowning episodes occurred during the study period. 10 (11%) children died, 28 were admitted to the paediatric intensive care unit and 64 directly to a ward. 3 children died in emergency department, 7 children had severe neurological deficit on discharge from the hospital. 23 were subsequently recruited into the study; 5 (22%) of these children had abnormalities in behaviour and/or executive function at some during their follow-up.ConclusionChildren admitted to hospital following a near-drowning event warrant long-term follow-up to identify any subtle sequelae which might be amenable to intervention to ensure optimal patient outcome.

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