Klinefelter syndrome (KS), also known as 47,XXY, is a syndrome where a male has an additional copy of the X chromosome. The primary features are infertility and small, poorly functioning testicles. Usually, symptoms are subtle and subjects do not realize they are affected. Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor motor coordination, less body hair, breast growth, and less interest in sex. Often, these symptoms are noticed only at puberty. Intelligence is usually normal, but reading difficulties and problems with speech are more common.Klinefelter syndrome occurs randomly. The extra X chromosome comes from the father and mother nearly equally. An older mother may have a slightly increased risk of a child with KS. The syndrome is defined  by the presence  of at least one extra X chromosome in addition to a Y chromosome yielding a total of 47 or more chromosomes rather than the usual 46. KS is diagnosed by the genetic test known as a karyotype.While no cure is known, a number of treatments may help. Physical therapy, occupational therapy, speech and language therapy, counselling, and adjustments of teaching methods may be useful. Testosterone replacement may be used in those who have significantly lower levels. Enlarged breasts may be removed by surgery. About half of affected males have a chance of fathering children with the help of assisted reproductive technology, but this is expensive and not risk free.
Tezepelumab, sold under the brand name Tezspire, is a human monoclonal antibody used for the treatment of asthma. Tezepelumab blocks thymic stromal lymphopoietin (TSLP), an epithelial cytokine that has been suggested to be critical in the initiation and persistence of airway inflammation.The most common side effects include arthralgia (joint pain) and pharyngitis (sore throat).Tezepelumab was approved for medical use in the United States in December 2021, and in the European Union in September 2022. Medical uses
Tezepelumab is indicated for the add-on maintenance treatment of people aged twelve years and older with severe asthma. History
Two main studies including over 1,500 adults and adolescents with inadequately controlled asthma showed that tezepelumab was effective in reducing the number of severe asthma flare‑ups. Society and culture
Legal status
On 21 July 2022, the Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) adopted a positive opinion, recommending the granting of a marketing authorization for the medicinal product Tezspire, intended as add-on treatment in adult and adolescent patients with severe asthma. The applicant for this medicinal product is AstraZeneca AB. Tezepelumab was approved for medical use in the European Union in September 2022. Research
It is being studied for the treatment of chronic obstructive pulmonary disease, chronic rhinosinusitis with nasal polyps, chronic spontaneous urticaria and eosinophilic esophagitis (EoE).In phase III trials, tezepelumab demonstrated efficacy compared to placebo for patients with severe, uncontrolled asthma.Structural studies by X-ray crystallography showed that tezepelumab competes against a critical part of the TSLPR binding site on TSLP. References
External links
"Tezepelumab". Drug Information Portal.