48,xxxy Syndrome

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MedlinePlus Genetics: ⁴² 48,XXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological children (infertility). Its signs and symptoms vary among affected individuals.Most boys and men with 48,XXXY syndrome have mild intellectual disability with learning difficulties. Speech and language development is particularly affected. Most affected boys and men can understand what other people say more easily than they themselves can speak. The problems with speech and communication can contribute to behavioral issues, including irritability and outbursts or temper tantrums. Boys and men with 48,XXXY syndrome tend to have anxiety, a short attention span, and impaired social skills.48,XXXY syndrome is also associated with weak muscle tone (hypotonia) and problems with coordination that delay the development of motor skills, such as sitting, standing, and walking. Affected boys and men tend to be taller than their peers, with an average adult height of over 6 feet.Other physical differences associated with 48,XXXY syndrome include abnormal fusion of certain bones in the forearm (radioulnar synostosis), an unusually large range of joint movement (hyperextensibility), elbow abnormalities, curved pinky fingers (fifth finger clinodactyly), and flat feet (pes planus). Affected individuals may have distinctive facial features, including widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point upward (upslanting palpebral fissures), and skin folds covering the inner corner of the eyes (epicanthal folds). However, some boys and men with 48,XXXY syndrome do not have these differences in their facial features.48,XXXY syndrome disrupts male sexual development. The penis is shorter than usual, and the testes may be undescended, which means they are abnormally located inside the pelvis or abdomen. The testes are small and do not produce enough testosterone, which is the hormone that directs male sexual development. The shortage of testosterone often leads to incomplete puberty. Starting in adolescence, affected boys and men may have sparse body hair, and some experience breast enlargement (gynecomastia). Their testes typically do not produce sperm, so most men with this condition are infertile.

MalaCards based summary: 48,xxxy Syndrome, also known as xxxy syndrome, is related to 48,xyyy and hypogonadotropic hypogonadism. The drugs Chlorhexidine and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include testes, breast and skin, and related phenotypes are global developmental delay and intellectual disability, mild

GARD: ¹⁹ 48,XXXY syndrome is a type of chromosome abnormality characterized by the presence of 2 extra X chromosomes in males. It is sometimes referred to as a variant of Klinefelter syndrome, but differs from Klinefelter syndrome in many ways and is usually more severe. Signs and symptoms of 48,XXXY syndrome can vary but may include learning difficulties; intellectual disability; low muscle tone (hypotonia); hypogonadism; delayed growth; distinctive facial features; and a variety of birth defects that may affect the genital and musculoskeletal systems. Many also have poorly developed social skills and delayed language development. This condition is not inherited and likely results from a random error in cell division.

Orphanet: ⁵⁸ The 48,XXXY syndrome represents a chromosomal anomaly of the aneuploidic type characterized by the presence of two extra X chromosomes in males.

Wikipedia: ⁷⁵ XXXY syndrome is a genetic condition characterized by a sex chromosome aneuploidy, where individuals... more...

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