We present case reports and magnetic resonance imaging studies on 3 individuals with 49,XXXXY. All 3 patients exhibited varying degrees of volume loss and abnormalities in white matter. [ncbi.nlm.nih.gov]

• Multiple Congenital Anomalies

  A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands [ncbi.nlm.nih.gov]

  We hope to remind clinicians to arrange chromosomal analysis if multiple congenital anomalies exist in a neonate. And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed. [unboundmedicine.com]

  Article / Publication Details First-Page Preview Abstract A 21-month-old boy with multiple congenital anomalies was found to have 49 chromosomes with an XXXXY sex chromosome constitution. [karger.com]

• Coarse Facial Features

  He had coarse facial features, cryptorchidism of the right testis, genu valgus deformities, and patent ductus arteriosus which are known associations of 49,XXXXY syndrome. [ncbi.nlm.nih.gov]

• Polydipsia

  A 25-year-old man with mental retardation presented with multiple skeletal abnormalities, polyuria and polydipsia. He had high glucose concentrations, without ketonuria, and hypergonadotropic hypogonadism. [ncbi.nlm.nih.gov]

  The patient's admission was characterized by dry mouth, polydipsia, and polyuria. Random blood glucose level was 19.61 mmol/L. He had a characteristic facial appearance with prognathism, widened nasal bridge, and strabismus (Figs. 1 and 2). [journals.lww.com]

  Clinical Presentation and Intervention: A 25-year-old man with mental retardation presented with multiple skeletal abnormalities, polyuria and polydipsia. He had high glucose concentrations, without ketonuria, and hypergonadotropic hypogonadism. [karger.com]

• Heart Murmur

  A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heart murmur, umbilical hernia, microphallus, and mild clenched hands [ncbi.nlm.nih.gov]

• Cyanosis

  A 28-year-old man presented with mental retardation, peculiar facial features, radioulnar synostosis, hypogonadism, aplasia of the right kidney, a moderate degree of proteinuria, and peripheral cyanosis. [ncbi.nlm.nih.gov]

• Dry Skin

  This man presented with facial features (epicanthus, hypertelorism, up-slanting palpebral fissures), microorchidism and features of chronic hypoandrogenism with muscular weakness, sparse body hair, dry skin with abnormal healing of skin wounds. [jle.com]

• Hyperextensible Joints

  Other features may include cleft palate, club feet, severely impaired speech, respiratory conditions, behavioral problems, short or broad neck, low birth weight, hyperextensible joints, short stature, narrow sholders, round face in infancy,(Look very [web.archive.org]

  Skeletal anomalies include: genu valgus pes cavus fifth finger clinodactyly The effects on the males also include: cleft palate club feet respiratory conditions short or/and broad neck low birth weight hyperextensible joints short stature narrow shoulders [psychology.wikia.com]

  Skeletal anomalies include: Genu valgum Pes cavus Fifth finger clinodactyly The effects also include: Cleft palate Club feet Respiratory conditions Short or/and broad neck Low birth weight Hyperextensible joints Short stature Narrow shoulders Coarse features [ipfs.io]

  These skeletal anomalies include: Genu valgum Pes cavus Fifth finger clinodactyly The effects also include: Cleft palate Club feet Respiratory conditions Short or/and broad neck Low birth weight Hyperextensible joints Short stature Narrow shoulders Coarse [en.wikipedia.org]

• Round Face

  Other features may include cleft palate, club feet, severely impaired speech, respiratory conditions, behavioral problems, short or broad neck, low birth weight, hyperextensible joints, short stature, narrow sholders, round face in infancy,(Look very [web.archive.org]

  face in infancy [3] Pathophysiology As its name indicates, a person with the syndrome has one Y chromosome and four X chromosomes on the 23rd pair, thus having 49 chromosomes rather than the normal 46. [ipfs.io]

  face in infancy [5] Cognitive and Developmental [ edit ] Much like Down syndrome, the mental effects of 49,XXXXY syndrome vary. [en.wikipedia.org]

• Coarse Face

  Typical clinical features include coarse faces, skeletal abnormalities, hypogenitalism and severe learning difficulties. Common ocular features include hypertelorism, epicanthic folds and up-slanting palpebral apertures. [ncbi.nlm.nih.gov]

  We report a case of 49, XXXXY syndrome confirmed by chromosomal study in neonatal period, whose clinical features included a coarse face, short neck, micropenis, and other multiple minor anomalies including simian creases. [kjp.or.kr]

  Clinical features of the syndrome are: coarse face, microcephaly, distinct dysmorphic features, short stature and an IQ ranging between 20 to 60 points. Recently, increased rates of brain anomalies were also described in this group of patients. [ashg.org]

• Polyuria

  A 25-year-old man with mental retardation presented with multiple skeletal abnormalities, polyuria and polydipsia. He had high glucose concentrations, without ketonuria, and hypergonadotropic hypogonadism. [ncbi.nlm.nih.gov]

  The patient was discharged 12 days after receiving treatment; meanwhile, there were no clinical symptoms of dry mouth, polyuria and polyuria, and his blood glucose level was controlled. 3 Discussion Klinefelter syndrome (KS) (47,XXY) is the most frequent [journals.lww.com]

  Clinical Presentation and Intervention: A 25-year-old man with mental retardation presented with multiple skeletal abnormalities, polyuria and polydipsia. He had high glucose concentrations, without ketonuria, and hypergonadotropic hypogonadism. [karger.com]

• Expressive Aphasia

  We describe the neurocognitive profile and structural anatomy of language pathway in a 2-year-old boy with 49, XXXXY syndrome with expressive aphasia. Retrospective chart review of the patient was performed. [ncbi.nlm.nih.gov]

• Aphasia

  We describe the neurocognitive profile and structural anatomy of language pathway in a 2-year-old boy with 49, XXXXY syndrome with expressive aphasia. Retrospective chart review of the patient was performed. [ncbi.nlm.nih.gov]

• Ketonuria

  He had high glucose concentrations, without ketonuria, and hypergonadotropic hypogonadism. Ophthalmic examination revealed a polar cataract in both eyes and increased intraocular pressure in the left eye. [ncbi.nlm.nih.gov]

Finally, we discuss testosterone supplementation in the treatment of this syndrome. [ncbi.nlm.nih.gov]

After 12 months of treatment, we observed the normalisation of testosterone levels. [scienceopen.com]

Future research should focus on genotype-phenotype relationships and the development of evidence-based treatments. [genetic.org]

Treatment The patient was treated with hormonal replacement therapy. [edmcasereports.com]

Please consult your own licensed physician regarding diagnosis and treatment of any medical condition! Please see also our disclaimer. This site complies with the HONcode standard for health information: verify here. Database updated 2019-02-19. [diseasesdatabase.com]

The effects of testosterone as evidenced by of acne scars, nocturnal emissions, would point to the presence of mosaicism in our patient and is can help in predicting prognosis and the ability to father children. [e-ijd.org]

Prognosis The condition is associated with an increased morbidity, resulting in the loss of approximately a two-year lifespan, with an increased mortality from many different diseases. [ 3 ] [patient.info]

Prognosis While many men with Klinefelter syndrome go on to live normal lives, nearly 100% of these men will be sterile (unable to produce a child). [medical-dictionary.thefreedictionary.com]

Their etiology is not precisely century with the first clinical recognition of known, so we have included chapters that dis symptoms and patterns for diagnosis of car cuss many aspects of congenital cardiac mal diovascular diseases. [books.google.com]

Etiology: three extra X chromosomes are responsible for the 49,XXXXY syndrome. 2. Mechanism a. All four X chromosomes are of maternal in origin. b. [link.springer.com]

Medical therapy of LOH should be individualized depending on the etiology of the disease and the patient's expectations. The fear of prostate cancer and the risk of erythrocytosis probably represent the main limitations of TRT in aging men. [scienceopen.com]

There was no family history of congenital eye disease; however, the patient's paternal grandfather had blindness of unknown etiology in his 40s. Birth weight (2154 g) and length (46 cm) were appropriate for gestational age. [healio.com]

Low levels of testosterone are associated with elevated levels of plasminogen activator inhibitor (PAI)-1. [1] Lower limb ulcers are frequently observed and the etiology is thought to be multifactorial including chronic venous insufficiency, obesity, [e-ijd.org]

Epidemiology It is the most common sex chromosome disorder, affecting 1 in 660 men. [ 3 ] Klinefelter's syndrome often goes undiagnosed in affected males. [patient.info]

To describe mortality in KS, we conducted an epidemiological study, using Danish registers covering the entire nation. [academic.oup.com]

Epidemiology XXY aneuploidy is the most common disorder of sex chromosomes in humans, with a prevalence of one in 500 males [ 3 ]. [ojrd.com]

Epidemiology Approximately one in 1,000 boys is born with an additional X chromosome—47,XXY, the karyotype that causes Klinefelter syndrome. 1 This karyotype is detected at or before birth in 10 percent of affected boys, and it is found during adulthood [aafp.org]

Taxonomies · Therapeutic issues · Modes of delivery · Model translation project · Personal experiences · 49 XXXXY Syndrome is an extremely rare, aneuploidic sex chromosomal abnormality; its frequency is approximately 1 out of 85,000 to 100,000 males. [1] [2] Pathophysiology [psychology.wikia.com]

Hyperextensible joints Short stature Narrow shoulders Coarse features in older age Hypertelorism Epicanthal folds Prognathism Gynecomastia (rare) Muscular hypotonia Hypoplastic genitalia Cryptorchidism Congenital heart defects A very round face in infancy [3] Pathophysiology [ipfs.io]

These males also tend to exhibit more immature behavior for their chronological age, increased aggressive tendencies were also cited in this study. [6] Pathophysiology [ edit ] As its name indicates, a person with the syndrome has one Y chromosome and [en.wikipedia.org]

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]

Dental management of a patient with 49,XXXXY syndrome is important to accomplish both controlling behavioral problems and medical considerations for preventing infective endocarditis. [jstage.jst.go.jp]

During cell division, an error called nondisjunction prevents X chromosomes from being distributed among egg cells as they form. Typically, as cells divide, each egg cell gets a single X chromosome. [ghr.nlm.nih.gov]

The syndrome cannot be prevented since the error is random and cannot be rectified once it happens. Males are affected by this syndrome. Unfortunately, no specific cure exists for xxxxy syndrome 49. [paktangle.com]

During cell division, an error called non-disjunction prevents the X chromosomes from being normally distributed among the reproductive cells as they are formed. [ivami.com]

It also prevents the testicles from producing normal amounts of sperm and the hormone testosterone. Testosterone affects the way a boy develops both physically and sexually. [kidshealth.org]