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Klinefelter Syndrome - MedlinePlus Genetics

Summarized by Plex Scholar
Last Updated: 11 June 2022

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Klinefelter syndrome

"Klinefelter syndrome is a chromosomal disorder in boys and men that can influence physical and intellectual growth. " Those who are taller than average are unable to father biological children, while parental and infant with this disorder have different signs and symptoms; however, boys and men with this disorder are more likely. Boys and men with Klinefelter syndrome typically have small testes that result in a reduced amount of testosterone. Testosterone is the hormone that controls male sexual growth before birth and during puberty. Other bodily changes as a result of Klinefelter syndrome are usually subtle. Children with Klinefelter syndrome may have weak muscle tone and coordination issues, which may cause coordination problems that may delay motor skills' development, such as sitting, standing, and walking. Boys and men with Klinefelter syndrome have greater receptive language skills than expressive language skills, and may have trouble speaking and expressing themselves. Autism Spectrum Disorder affects approximately 10% of children and men with Klinefelter syndrome. Nearly half of all men with Klinefelter syndrome experience metabolic syndrome, which is a group of illnesses affecting type 2 diabetes, elevated blood pressure, elevated abdominal fat, elevated blood pressure, elevated cholesterol levels, and triglycerides in the blood. Compared to unaffected men, adults with Klinefelter syndrome, breast cancer, thinning and weakening of the bones, and autoimmune disorders such as systemic lupus erythematosus and rheumatoid arthritis are also at an elevated risk of experiencing involuntary trembling, breast cancer, thinning and weakening of the bones.

Source link: https://medlineplus.gov/genetics/condition/klinefelter-syndrome


48,XXYY syndrome

"Adolescents and adults with this disorder typically have small testes that do not produce enough testosterone, the hormone that regulates male sexual development. " People with 48,XXYY syndrome are infertile, as their testes do not work as expected. The 48,XXYY syndrome can affect other areas of the body as well. Multiple cavities are common in dental patients with delayed development of the primary or secondary teeth, thin tooth enamel, crowded or misaligned teeth, or multiple cavities. People with 48, XXYY's life expectancy may cause a narrowing of the blood vessels in the legs, called peripheral vascular disease. Skin ulcers can develop as a result of peripheral vascular disease. People affected by a deep vein thrombosis of the legs are also at risk of acquiring a form of clot called a deep vein thrombosis. In addition, people with 48, XXYY syndrome may have flat feet, elbow abnormalities, unusual fusion of particular bones in the forearm, allergies, asthma, type 2 diabetes, seizures, and congenital heart abnormalities. Most people with 48,XXYY syndrome have an intelligence that ranges from 70-80 to some degree of difficulty with speech and language learning. Some children with 48,XXY syndrome have delayed learning of motor skills such as sitting, standing, and walking, which can lead to poor coordination. Affected individuals have higher than average rates of psychological disorders, such as attention deficit/hyperactivity disorder; mood disorders, including anxiety and bipolar disorder; and autism spectrum disorder, which affects communication and social interaction, are among the most common disorders.

Source link: https://medlineplus.gov/genetics/condition/48xxyy-syndrome


49,XXXXY syndrome

"Boys and men with 49,XXXXXXXy syndrome have mild to moderate learning difficulties, with learning difficulties. " Boys and men with the most troubled are able to hear what others say more clearly than they can speak. People with 49,XXXY syndrome are generally shy and welcoming, but speech and communication can also contribute to behavioral disorders such as irritability, refusal to tolerate anger, defiant conduct, and outbursts or temper tantrums. Affected individuals have distinctive facial features such as wide-eyed eyes, outside the eye's margins that point upward, skin folds covering the inner corner of the eyes, and a flat bridge of the nose. Some boys and men may have sparse body hair, and others may have breast enlargement starting in adolescence, while others have breast enlargement. Both males with 49,XXXXXXY syndrome are infertile, because their testes do not produce sperm.

Source link: https://medlineplus.gov/genetics/condition/49xxxxy-syndrome


48,XXXY syndrome

"Most boys and men with 48,XXXXY syndrome have mild educational difficulties with learning difficulties. " Boys and men with disabilities are more likely to hear what others say more clearly than they can talk. Boys and men with 48,XXXY syndrome may have anxiety, a short attention span, and poor social skills. Poor muscle tone and coordination issues, as well as poor muscle tone and coordination issues that delay motor skills development, such as sitting, standing, and walking, are also associated with poor muscle tone and poor coordination, which delay the learning of motor skills, such as sitting, standing, and walking. Individuals affected by the eyelids may have distinctive facial features, including widely spaced eyes, outside the eyes' pointing upward, and skin folds covering the inner corner of the eyes. However, facial features of some boys and men with 48,XXXY syndrome do not have these differences in their facial appearances. Male sexual reproduction is interrupted by the 48,XXXY syndrome. Some boys and men may have sparse body hair, and others may have breast enlargement beginning in adolescence, and some experience breast enlargement. ".

Source link: https://medlineplus.gov/genetics/condition/48xxxy-syndrome


47,XYY syndrome

"47,Xyy syndrome is characterized by an extra copy of the Y chromosome in each of an individual's cells. " Although most people with this disorder are shorter than average, chromosomal change can sometimes result in no unusual physical characteristics. Most people with 47,XYY syndrome have normal testosterone production and normal male sexual growth, and they are usually able to father children. Learning disabilities are an elevated risk of learning disabilities and delayed development of language and literacy skills in 47,XYY syndrome. Children affected by autism may have a delayed growth of motor skills or weak muscle tone. Compared to their unaffected peers, people with 47,XYY syndrome have an elevated risk of physical, social, and emotional difficulties. Attention-deficit/hyperactivity disorder (ETH); depressed; anxiety; and autism spectrum disorder (which is a group of developmental disorders that influence communication and social interaction) are among the disorders.

Source link: https://medlineplus.gov/genetics/condition/47xyy-syndrome


Aicardi syndrome

"People with Aicardi syndrome have missing or underdeveloped tissue connecting the left and right halves of the brain. " People with Aicardi syndrome have additional brain abnormalities, including asymmetry between the two brain folds and grooves that are small in size or reduced in number, cysts, and enlargement of the fluid-filled cavities near the center of the brain. In addition to chorioretinal lacunae, people with Aicardi syndrome may have other eye abnormalities, such as small or poorly developed eyes, or a gap or hole in the optic nerve, a system that transports information from the eye to the brain. Some people with Aicardi syndrome have a short gap between the upper lip and the nose, a flat nose with upturned tip, large ears, and sparse eyebrows. Aicardi syndrome is a chronic illness that can be unpredictable. ".

Source link: https://medlineplus.gov/genetics/condition/aicardi-syndrome

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions