We present a patient with 49,XXXXY syndrome, who was first presented to an endocrinological unit at the age of 12.5 years with prepubertal genitalia. [ncbi.nlm.nih.gov]

A second case of fetal XXXXY-syndrome detected by prenatal chromosome analysis is presented. [moh-it.pure.elsevier.com]

• Recurrent Respiratory Infection

  In addition, almost all patients had muscular hypotonia, radioulnar synostosis, white matter anomalies, fifth-finger clinodactyly, recurrent respiratory infections in early childhood and teeth anomalies. IQ scores ranged between 40 and 70. [ncbi.nlm.nih.gov]

  The patient suffered recurrent bacterial respiratory infections during his growth; these required only antibiotic treatment. [edm.bioscientifica.com]

  We report the case of a 19-year-old boy, presenting several congenital malformations (facial dysmorphisms, cardiac and musculoskeletal abnormalities), mental retardation, recurrent respiratory infections during growth and delayed puberty. [scienceopen.com]

  respiratory infections Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ] 0002205 Renal dysplasia 0000110 Scoliosis 0002650 Scrotal hypoplasia Smaller than [rarediseases.info.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]

• Chronic Infection

  […] otitis media Chronic infections of the middle ear 0000389 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Constipation 0002019 Coxa valga 0002673 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Delayed [rarediseases.info.nih.gov]

• Surgical Procedure

  This form of skin infection is difficult to treat with antibiotics alone and typically requires a surgical procedure to remove the involved sweat glands in order to stop the skin inflammation. [livingnaturallyonline.com]

• Sudden Infant Death Syndrome

  Heavy caffeine intake during pregnancy may increase the risk of SIDS (sudden infant death syndrome). Very high doses of caffeine have been linked with birth defects. Caffeine is transferred into breast milk. [livingnaturallyonline.com]

• Pneumonia

  The patient had a history of hospitalization for pneumonia in the PICU at the age of 10 months and improved after the treatment. [jbums.org]

  Subdividing infectious and pulmonary diseases, we found an increased risk of dying with septicemia, pneumonia, and nonasthmatic obstructive airway disease as the primary or contributing cause of death ( Table 2 ). TABLE 2. [academic.oup.com]

  Preliminary research reports that selenium may be beneficial in the prevention of several types of infection, including recurrence of erysipelas (bacterial skin infection associated with lymphedema) or Mycoplasma pneumonia. [livingnaturallyonline.com]

• Failure to Thrive

  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]

  CASE: We report an 11 month old infant that initially was managed by pediatric cardiologist for congenital heart disease and referred to endocrinology clinic due to failure to thrive, facial malformations and ambiguous genitalia. [jbums.org]

  […] to thrive, facial malformations and ambiguous genitalia. [sid.ir]

  Motor delay and neonatal hypotonia were found in all patients, three of them with failure to thrive. Cognitive development was affected in some degree in all the patients, specially in language and verbal skills. [abstracts.eurospe.org]

• Constipation

  […] hyperactivity disorder [ more ] 0007018 Autism 0000717 Blepharophimosis Narrow opening between the eyelids 0000581 Chronic otitis media Chronic infections of the middle ear 0000389 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Constipation [rarediseases.info.nih.gov]

  […] impairment 58 30 Hallmark (90%) Very frequent (99-80%) HP:0002463 12 abnormal dental enamel morphology 30 Hallmark (90%) HP:0000682 13 seizure 58 30 Frequent (33%) Frequent (79-30%) HP:0001250 14 scoliosis 58 30 Frequent (33%) Frequent (79-30%) HP:0002650 15 constipation [malacards.org]

• Heart Disease

  He was visited by the pediatric cardiologist for congenital heart disease. No obvious malformation and congenital heart disease were seen. [ncbi.nlm.nih.gov]

  We have recently seen two patients with the 49,XXXXY syndrome with associated congenital heart disease. [pediatrics.aappublications.org]

  Congenital heart disease in 49, XXXXY syndrome. R. [semanticscholar.org]

• Skin Rash

  rash, stomach discomfort, stomach ulcers, and vomiting. [livingnaturallyonline.com]

• Hip Dislocation

  Dislocations of the elbows Elbow dislocations [ more ] 0003042 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Gynecomastia Enlarged male breast 0000771 Hip dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Hypertelorism Wide-set [rarediseases.info.nih.gov]

  Skeletal survey showed delayed bone age (1 year), kyphosis, short incurved fifth finger, radioulnar synostosis, shallow acetabulum, and mild right hip dislocation. Chest x-ray study showed mild cardiomegaly. [annsaudimed.net]

  dislocation 58 30 Frequent (33%) Frequent (79-30%) HP:0002827 32 joint hyperflexibility 58 30 Frequent (33%) Frequent (79-30%) HP:0005692 33 blepharophimosis 58 30 Frequent (33%) Frequent (79-30%) HP:0000581 34 radioulnar synostosis 58 30 Frequent (33% [malacards.org]

• Sloping Shoulders

  shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Elbow dislocation Dislocations of the elbows Elbow dislocations [ more ] 0003042 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Gynecomastia Enlarged [rarediseases.info.nih.gov]

  Physical examination revealed: hypotonia, broad forehead and nasal bridge, hypertelorism, epicanthic folds, rotated left ear, lack of teeth, short neck, sloping shoulders, narrow thorax, left side scoliosis, hypoplastic scrotum, small penis and testes [endocrine-abstracts.org]

  shoulders 58 30 Frequent (33%) Frequent (79-30%) HP:0200021 36 gynecomastia 58 30 Frequent (33%) Frequent (79-30%) HP:0000771 37 coxa valga 58 30 Frequent (33%) Frequent (79-30%) HP:0002673 38 elbow dislocation 58 30 Frequent (33%) Frequent (79-30%) [malacards.org]

• Decrease in Height

  […] length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Shyness 0100962 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Tremor 0001337 Type II diabetes mellitus Noninsulin-dependent diabetes [rarediseases.info.nih.gov]

• Cryptorchidism

  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]

  The most frequent clinical findings were cryptorchidism in prepubertal patients, and small testes, cryptorchidism, and gynecomastia in pubertal patients. [hindawi.com]

  Cryptorchidism was present in 4/7. All but one were small for gestational age. Height in normal range (−2.15 to +0.7 S.D.) but below midparental height (−1.1 to +1.3 S.D.). [abstracts.eurospe.org]

  […] features in older age, hypertelorism, epicanthal folds, prognathism, gynecomastia (rare), congenital heart defects (PDA is most common), skeletal anomalies: genu valgus, pes cavus, fifth finger clinodactyly, muscular hypotonia, hypoplastic genitalia, cryptorchidism [web.archive.org]

  Hypogonadism is severe with a micropenis, microorchidism, hypoplasia of the scrotum and cryptorchidism. Gynecomastia is uncommon. [orpha.net]

• Microphallus

  A two month-old boy with intrauterine growth restriction (IUGR) and low birth weight, facial dysmorphism, clinodactyly in feet, microphallus, and right undescendent testis were seen by neonatologist. [ncbi.nlm.nih.gov]

  At the 9th month age genital abnormalities comprise microphallus and right undescendent testis were seen in the patient. No obvious malformation and congenital heart disease were seen. [ijrm.ir]

  Case: A two month-old boy with intrauterine growth restriction (IUGR) and low birth weight, facial dysmorphism, clinodactyly in feet, microphallus, and right undescendent testis were seen by neonatologist. [journals.ssu.ac.ir]

  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 [pubmed.ncbi.nlm.nih.gov]

• Behavior Problem

  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]

  Males with the syndrome tend to have impaired speech and behavioral problems. Those with 49 XXXXY Syndrome tend to exhibit infantile secondary sex characteristics and have some skeletal anomalies. [wikidoc.org]

  Behavioral problems such as shyness can also become apparent. [orpha.net]

• Global Developmental Delay

  The authors describe a 30-month-old boy with 49,XXXXY syndrome, global developmental delay and white matter changes in the brain magnetic resonance imaging. [ncbi.nlm.nih.gov]

  He is diagnosed with global developmental delay. This is the first report of congenital cataract in a patient with 49,XXXXY syndrome. Congenital cataract has been described previously, in one case of 46,XXY syndrome. [ashg.org]

  Global developmental delay, hypotonia and weak truncal muscles were noted on examination. Growth parameters were within normal limits. Kidney ultrasound revealed findings suggestive of Vesicoureteral reflux. [x-mol.com]

  developmental delay 0011343 Narrow chest Low chest circumference Narrow shoulders [ more ] 0000774 Primary gonadal insufficiency 0008193 Prominent forehead Pronounced forehead Protruding forehead [ more ] 0011220 Recurrent upper respiratory tract infections [rarediseases.info.nih.gov]

• Hyperactivity

  We found attention deficit hyperactivity disorder in 5/7 patients and anxiety behaviors in 5 of the seven boys. [abstracts.eurospe.org]

  […] disorder Attention deficit Attention deficit disorder Attention deficit-hyperactivity disorder Attention deficits Childhood attention deficit/hyperactivity disorder [ more ] 0007018 Autism 0000717 Blepharophimosis Narrow opening between the eyelids 0000581 [rarediseases.info.nih.gov]

  […] males with 48,XXYY compared to 9 males with 47,XXY between the ages of 5 and 20, findings indicate that 48,XXYY males have verbal and full scale IQ's significantly lower than males with 47,XXY [ 27 ]. 48,XXYY males are also prone to have problems with hyperactivity [ojrd.com]

• Tremor

  Tremors 0001337 Type II diabetes mellitus Noninsulin-dependent diabetes Type 2 diabetes Type II diabetes [ more ] 0005978 Venous thrombosis Blood clot in vein 0004936 Wide nose Broad nose Increased breadth of nose Increased nasal breadth Increased nasal [rarediseases.info.nih.gov]

  Occurrence 1:1,000 to 1:500 (males only) Characteristic Features Sterility (95%+) Decreased testosterone levels Increased excretion of gonadotropin Hypogonadism Gynecomastia (pubertal breast development) Diminished secondary sexual characteristics Hand tremors [cme.ucsd.edu]

  Neurologic Exam Neurologic exam should be normal, yet hypotonia and a resting hand tremor are sometimes present. [medicalhomeportal.org]

  Gropman et al. described patients with 48,XXXY syndrome with tics, intentional tremor and generalized hypotonia [7]. At present, only a mild generalized hypotonia emerged in our patient. [ijponline.biomedcentral.com]

• Neonatal Hypotonia

  Motor delay and neonatal hypotonia were found in all patients, three of them with failure to thrive. Cognitive development was affected in some degree in all the patients, specially in language and verbal skills. [abstracts.eurospe.org]

Overview Many men are still diagnosed when, in the midst of leading normal lives, they have a karyotype or chromosome study as part of the workup for infertility. [medicalhomeportal.org]

Workup in Klinefelter syndrome Klinefelter syndrome may be diagnosed prenatally from fetal cytogenetic analyses performed on chorionic villi or amniocytes. [emedicine.medscape.com]

• Small Kidney

  kidney Absent/underdeveloped kidney [ more ] 0008678 Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [ more ] 0004322 Shyness 0100962 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 [rarediseases.info.nih.gov]

  There is usually severe hypogonadism with an abnormally small penis (micropenis), small testes, and/or undescended testes (cryptorchidism). [rareguru.com]

Before taking any medication, always check with a qualified professional for healthcare information, treatment advice. [rarediseases.oscar.ncsu.edu]

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

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

Because the patient was hospitalized for a short period of time (the family asked to be discharged after 12 days of treatment), so there was a lack of further diagnostic tests and targeted treatments in this case. [journals.lww.com]

Prognosis Patients have an essentially normal life expectancy but will need to attend regular medical visits. [orpha.net]

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]

The overall prognosis in our patient, considering the mental retardation and infertility, is poor. ARTICLE REFERENCES: 1. Smith WD. Recognisable pattern of human malformation, ed 3. Philadelphia: Saunders, 1982;64–66. 2. Kaplan SA. [annsaudimed.net]

“The detection and monitoring of … mosaicism is important for early diagnosis, prognosis and evidence-based therapeutic interventions in brain diseases,” the scientists said. [rettsyndromenews.com]

The parents were counseled regarding the child's health and prognosis. The genital reconstruction was planned after the child was to be of 12 months of age. [ijournalhs.org]

Etiology The etiology is the non disjunction of homologous chromosomes (during the first meiotic division) or of sister chromatids (during the second meiotic division) in the maternal germ cells. [orpha.net]

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]

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]

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]

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]

Summary Epidemiology It has an annual incidence of 1/85,000 to 1/100,000 male births. [orpha.net]

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 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]

49, XXXXY syndrome Classification and external resources ICD-9 758.81 DiseasesDB 32552 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 [dictionnaire.sensagent.leparisien.fr]

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 four [en.wikipedia.org]

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]

Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment is an essential resource for all engaged in prenatal genetic diagnosis, especially obstetricians, maternal-fetal medicine specialists, medical geneticists, genetic counsellors, and pediatricians [books.google.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]

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]