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]
To present a case of a patient with XXXXY syndrome, anomalous optic nerves, and dural ectasia in conjunction with macular detachment. Case report. A 3-year-old boy with XXXXY chromosomal abnormality presented with bilateral maculopathy.[ncbi.nlm.nih.gov]
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]
A case of neonatal diagnosis of 49,XXXXY syndrome is presented. Clinical identification was prompted by a bilateral thickening of the radioulnar joints and X-ray imaging disclosing almost complete radioulnar synostosis.[ncbi.nlm.nih.gov]
The phenotypic presentation of the boys with 49, XXXXY shares some characteristics with 47, XXY, but there are also other unique and distinctive features.[ncbi.nlm.nih.gov]
A 5-month-old boy had failure to thrive and multiplecongenitalanomalies 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 multiplecongenitalanomalies exist in a neonate. And remember to exclude congenital genitourinary tract anomaly if karyotype 49, XXXXY is diagnosed.[ncbi.nlm.nih.gov]
He had coarsefacialfeatures, cryptorchidism of the right testis, genu valgus deformities, and patent ductus arteriosus which are known associations of 49,XXXXY syndrome.[ncbi.nlm.nih.gov]
A 5-month-old boy had failure to thrive and multiple congenital anomalies including microcephaly, facial dysmorphism (hypertelorism, megacornea, cleft palate, and micrognathia), obvious heartmurmur, umbilical hernia, microphallus, and mild clenched hands[ncbi.nlm.nih.gov]
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]
We describe the neurocognitive profile and structural anatomy of language pathway in a 2-year-old boy with 49, XXXXY syndrome with expressiveaphasia. Retrospective chart review of the patient was performed.[ncbi.nlm.nih.gov]
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]
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]
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]
This era was followed by improved environmental factors which operate to produce methods of medical treatment, introduction congenital cardiac malformations.[books.google.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]
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]
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 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]
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]
Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males. Clin Genet . 2002;61:49–53. 9. Shen D, Liu D, Liu H, Clasen L, Giedd J, Davatzikos C.[aafp.org]
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]
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]
Klinefelter syndrome tend to have reduced mental and physical quality of life, caused directly by Klinefelter syndrome and indirectly by factors that, compared with controls, include lower levels of income, physical activity, and sexual function. [ 15 ] Epidemiology[emedicine.medscape.com]
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]
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]
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]
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]
Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections.[livingnaturally.com]