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48,XXXY Syndrome

49,XXXXY Syndrome


Presentation

  • Sex Chromosome aneuploidy and Sex Determination Learning Objectives: Understand Sex Determination Learn the presentation of XXXY Syndrome Discuss treatment options and their pitfalls Case Presentation 25 year old male History includes late puperty with[prezi.com]
  • Abstract 49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in which the affected individuals present with characteristic facial and skeletal malformations, intrauterine growth retardation, and psychomotor retardation.[unboundmedicine.com]
  • Treatment depends on the symptoms present in each individual and is best managed by a team of specialists, including cardiologists, orthopedists, speech therapists, neurologists, and endocrinologists. Life expectancy is generally normal ... 2 ...[familydiagnosis.com]
  • At present, only a mild generalized hypotonia emerged in our patient.[ijponline.biomedcentral.com]
  • Case presentation Here, we report a boy with 48,XXXY/49,XXXXY mosaicism, phenotypically characterized by hypotonia, intellectual disability, ventricular septal defect, micropenis, and with mild hypertelorism, inverted nipples, a congenital hip dysplasia[paperity.org]
Cerebral Palsy
  • palsy Child Neurology childhood chlorpromazine clinical conditions associated coordination cytomegalic inclusion disease deafness defects deficiency deterioration diagnosis disease disorders Down’s syndrome drugs dwarfism electroencephalogram encephalitis[books.google.com]
Recurrent Respiratory Infections
  • respiratory infections;HP:0002564 Malformation of the heart and great vessels;HP:0002648 Abnormality of calvarial morphology;HP:0002650 Scoliosis;HP:0002974 Radioulnar synostosis;HP:0003042 Elbow dislocation;HP:0003043 Abnormality of the shoulder;HP:[pediascape.org]
Hyperextensible Joints
  • Bendy (hyperextensible) joints and flat feet are common. The parents of a son with 48,XXXY almost always have normal chromosomes in their body’s cells, so they are not routinely tested.[gagesstory48syndrome.weebly.com]
  • joints, and underdeveloped genitalia with hypergonadotropic hypogonadism [Visootsak et al., 2007].[karger.com]

Workup

  • During a workup for delayed development, genotyping revealed 48, XXYY with CGG repeat sequence unremarkable for Fragile X syndrome. At seven years old his full scale IQ was 70 with verbal IQ of 80 and performance IQ of 65 as measured by WISC-III.[childhood-developmental-disorders.imedpub.com]

Treatment

  • More Symptoms of 48,XXXY syndrome » Treatments: 48,XXXY syndrome Treatment : There is no cure for 48, XXXY syndrome .[familydiagnosis.com]
  • Future research should focus on genotype-phenotype relationships and the development of evidence-based treatments.[unboundmedicine.com]
  • Future research should focus on genotype–phenotype relationships and the development of evidence-based treatments.[ingentaconnect.com]
  • Sex Chromosome aneuploidy and Sex Determination Learning Objectives: Understand Sex Determination Learn the presentation of XXXY Syndrome Discuss treatment options and their pitfalls Case Presentation 25 year old male History includes late puperty with[prezi.com]

Prognosis

  • Laki-laki Sindrom super male XO Wanita Sindrom Turner XXX Wanita Sindrom superfemale Tanda Klinis Pada Kelainan Kromosom Seks  Retardasi mental  Kelainan pertumbuhan  Umumnya dapat hidup mandiri  Kecuali sindrom Turner, umumnya berfenotip normal  Prognosis[ixssan.blogspot.com]
  • Laki-laki Sindrom super male q XO Wanita Sindrom Turner q XXX Wanita Sindrom superfemale Tanda Klinis Pada Kelainan Kromosom Seks Retardasi mental Kelainan pertumbuhan Umumnya dapat hidup mandiri Kecuali sindrom Turner yang umumnya berfenotip normal Prognosis[suharbara.wordpress.com]
  • What is the outlook (prognosis) for Klinefelter's syndrome (KS)? Sometimes boys with KS may struggle through adolescence.[patient.info]
  • Prognosis While many men with Klinefelter syndrome live normal lives, nearly 100 percent of these men will be sterile (unable to produce a child).[healthofchildren.com]
  • […] skills) are a significant area of weakness, necessitating community-based supports for almost all individuals in adulthood. [1] Additional treatment recommendations based on the individual strengths and weaknesses in XXYY syndrome may be required. [5] Prognosis[en.wikipedia.org]

Etiology

  • Synonyms Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here.[pediascape.org]
  • Untuk mengetahui etiologi dari Sindrom Klinefelter . 3. Untik mengetahui patofisiologi dari Sindrom Klinefelter . 4. Untuk mengetahui klasifikasi dari Sindrom Klinefelter . 5. Untuk mengetahui pemeriksaan diagnostic dari Sindrom Klinefelter . 6.[kediribersemiselalu.blogspot.com]
  • Successive meiotic nondisjuctional events during spermatogenesis, resulting in a XYY sperm have been attributed as the most probable etiological mechanism of 48, XXYY syndrome.[jcd.org.in]
  • Etiology • Meiotic nondisjunction of chromosome pairs during the first or second division of gametogenesis • Mitotic nondisjunction on the developing zygote • It’s a random event during the formation of reproductive cells 6.[de.slideshare.net]

Epidemiology

  • The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations.[books.google.com]
  • Epidemiology• This syndrome, evenly spread in all ethnic groups, has a prevalence of1-2 subjects every 1000 males in the general population• 3.1 % of infertile males have Klinefelter syndrome• The prevalence of the syndrome has increased over the past[slideshare.net]
  • To describe mortality in KS, we conducted an epidemiological study, using Danish registers covering the entire nation.[academic.oup.com]
  • This chapter reviews various aspects of Klinefelter syndrome, including epidemiology, cytogenetics, molecular genetics, clinical manifestations, and management.[glowm.com]
  • Penelitian selanjutnya menemukann kelainan kromosom X pada sindrom Klinefelter yakni 48,XXXY dan variasi lainnya. 2,8,9 Epidemiologi Sindrom Klinefelter merupakan kelainan kromosom seks yang paling sering.[urologynotes.wordpress.com]
Sex distribution
Age distribution

Pathophysiology

  • Authors’ Affiliations (1) Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli studi di Milano, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122 Milan, Italy (2) Neuroradiology[ijponline.biomedcentral.com]
  • The pathophysiology this not been elucidated but could be attributed to estrogen testosterone imbalance [4]. Type II diabetes is seen in about 18% of patients with KS 48, XXYY.[symbiosisonlinepublishing.com]
  • XXYY is still considered a variation of Klinefelter syndrome by some definitions, mainly because the pathophysiology of the testicular dysfunction has not been shown to differ from 47, XXY, and the most current research does not suggest that there should[en.wikipedia.org]
  • Since then, however, developments in microsurgical techniques and advances in artificial reproductive technologies (ART) have enabled over 50% of men with Klinefelter syndrome to sire their own children. [4, 5 , 6, 7 , 8] Pathophysiology The X chromosome[emedicine.medscape.com]

Prevention

  • Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections.[livingnaturallyonline.com]
  • With testosterone treatment from the age of 11 it is possible that development of mamma tissue can be reduced or prevented.[klinefelters.org]
  • This is because the extra X chromosomes usually lead to small testicles and a testosterone deficiency that delays or prevents full pubertal development.[childrenscolorado.org]
  • How can this disease be prevented? There is no way to prevent the occurrence of Klinefelter syndrome.[clinicaladvisor.com]
  • Prevention Klinefelter syndrome usually is not inherited but occurs during fetal development, so there is no means of preventing the disease.[healthofchildren.com]

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