Klinefelter’s Syndrome – Unusual Associations

Pulmonary Aplasia with Unusual Associations in a Woman

Failure of development of the primitive lung bud leads to an extremely rare congenital anomaly with a prevalence of 34 per 10 lac live births termed pulmonary aplasia. In half of such cases, associated congenital malformations of the cardiovascular, skeletal, gastrointestinal, or genitourinary systems are present. The Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is defined as the congenital a...

A case report of Klinefelter’s syndrome hiding behind pulmonary embolism

Klinefelter’s syndrome, characterized by a karyotype of XXY, is characterized by a series of clinical manifestation such as hypogonadism, small testes, gynecomastia and infertility. This condition promotes hypofribrinolysis due to hormonal imbalances and thrombophillic factors resulting in a hypercoagulability state. Rare complications include thromboembolic events and deep vein thrombosis. Her...

Klinefelter Syndrome in Twins: It Is All in the Family

Klinefelter’s Syndrome is a form of male hypogonadism which may present with; either a congenital chromosome abnormality; or alternatively with a mixture of 47XXY/46XY mosaics or higher-grade sex chromosomal aneuploidy as well as structurally abnormal X chromosomes. Clinically, the syndrome is characterized by findings of small, firm testes and symptoms of androgen deficiency but they may also ...

Klinefelter's syndrome.

THE LANCET • Vol 356 • July 22, 2000 333 Klinefelter’s syndrome Klinefelter’s syndrome is the most common cause of testicular failure that results in impairments in both spermatogenesis and—to a lesser extent—testosterone production. This syndrome is the most common sexchromosome disorder affecting 1 in 500 men across all ethnic groups, but the diagnosis is often delayed because of substantial ...

Previous Studies of Diabetes Mellitus in Patients with Klinefelter’s Syndrome