Pulmonary embolism and patent foramen ovale thrombosis: the key role of TEE

This is a case report of a 35 young man with Klinefelter Syndrome presented breathlessness, palpitations and chest pain. It shows a rare case of a thrombus located through the PFO, in patient with pulmonary and paradoxical embolism, which takes back to exciting hypothesis on thrombus growth. A thrombus, which has grown 'in situ' or trapped through the patent foramen ovale, may be a cause of relapsing pulmonary or systemic embolism during anticoagulation therapy

Klinefelter syndrome and other sex chromosomal aneuploidies

<p>Abstract</p> <p>The term Klinefelter syndrome (KS) describes a group of chromosomal disorder in which there is at least one extra X chromosome to a normal male karyotype, 46,XY. XXY aneuploidy is the most common disorder of sex chromosomes in humans, with prevalence of one in 500 males. Other sex chromosomal aneuploidies have also been described, although they are much less frequent, with 48,XXYY and 48,XXXY being present in 1 per 17,000 to 1 per 50,000 male births. The incidence of 49,XXXXY is 1 per 85,000 to 100,000 male births. In addition, 46,XX males also exist and it is caused by translocation of Y material including sex determining region (SRY) to the X chromosome during paternal meiosis. Formal cytogenetic analysis is necessary to make a definite diagnosis, and more obvious differences in physical features tend to be associated with increasing numbers of sex chromosomes. If the diagnosis is not made prenatally, 47,XXY males may present with a variety of subtle clinical signs that are age-related. In infancy, males with 47,XXY may have chromosomal evaluations done for hypospadias, small phallus or cryptorchidism, developmental delay. The school-aged child may present with language delay, learning disabilities, or behavioral problems. The older child or adolescent may be discovered during an endocrine evaluation for delayed or incomplete pubertal development with eunuchoid body habitus, gynecomastia, and small testes. Adults are often evaluated for infertility or breast malignancy. Androgen replacement therapy should begin at puberty, around age 12 years, in increasing dosage sufficient to maintain age appropriate serum concentrations of testosterone, estradiol, follicle stimulating hormone (FSH), and luteinizing hormone (LH). The effects on physical and cognitive development increase with the number of extra Xs, and each extra X is associated with an intelligence quotient (IQ) decrease of approximately 15–16 points, with language most affected, particularly expressive language skills.</p

Different karyotypes, same disease?

High grade aneuploidies of the sex chromosomes (HGA) presenting with a male phenotype comprise a vast and heterogenous group of very rare conditions, once considered as “variants” of Klinefelter syndrome (KS). This association with KS was mainly based on the presence of at least one supernumerary X chromosome, high stature and hypergonadotropic hypogonadism with severe testicular hypotrophy. However, many of the shared features show elevated severity in HGA compared to KS, while many others are unique to HGA. Different karyotypes arise from mechanisms peculiar to each HGA syndrome. Age at diagnosis ranges from pre-natal to early adulthood and an increased mortality ratio has been reported in these patients, mostly from respiratory diseases and congenital abnormalities. Among physical features the most common include: facial dysmorphisms, radioulnar synostosis, clinodactyly, impaired genital development (e.g. micropenis, cryptorchidism) renal dysplasia, cardiac malformations and taurodontism. Almost all patients show learning disabilities and intellectual deficits are common, with full scale IQs as low as 20-40, with verbal performances being the most affected. Behaviorally attention deficit-hyperactivity disorder (ADHD) and autism spectrum disorders are common, and patients’ temper can range from shyness to aggressiveness. Androgen replacement therapy is often necessary to start or complete pubertal development and is effective in ameliorating neuropsychiatric symptoms to some extent. Fertility is severely impaired, with all HGA patients being azoospermic and is often not a concern given the concurrent intellectual disability, although access to assisted reproduction techniques can be evaluated on a case-by-case basis