OBJECTIVE To identify clinical and laboratory data which differentiate Klinefelter syndrome (KS) patients according to age group. METHODS The study included all cases of hypogonadism, gynecomastia and/or infertility whose karyotype was performed at a university hospital from January 1989 to December 2011, in a total of 105 subjects. The following data were retrospectively analyzed: age at fir...

OBJECTIVE The knowledge about health status in adults with disorder of sex development (DSD) is scarce. DESIGN AND METHODS A cross-sectional observational study in 14 European tertiary centers recruited 1040 participants (717 females, 311 males, 12 others) with DSD. Mean age was 32.4 ± 13.6 year (range 16-75). The cohort was divided into: Turner (n = 301), Klinefelter (n = 224), XY-DSD (n = 2...

For many patients who require an allogeneic stem cell transplant, a human leukocyte antigen (HLA)-matched sibling or an appropriate unrelated donor can be identified. However, there are some pediatric patients who require transplantation for whom the best outcome and/or the only option is the collection of umbilical cord blood following the birth of an HLA identical sibling. This scenario occur...

Article Síndrome de Klinefelter con deleción del brazo largo cromosoma X was published on December 1, 2022 in the journal Advances Laboratory Medicine / Avances en Medicina Laboratorio (volume 3, issue 4).

OBJECTIVES To characterize associations among psychosocial well-being, physical phenotype, and sex hormones in a sample of youth with Klinefelter syndrome (KS). We hypothesized that KS physical traits (phenotype) are associated with adverse psychosocial health measures and that testosterone levels are associated with adverse psychosocial health. STUDY DESIGN Forty-three boys with KS (ages 8-1...

BACKGROUND The association of achondroplasia and Klinefelter syndrome is extremely rare. To date, five cases have been previously reported, all of them diagnosed beyond the postnatal period, and only one was molecularly characterized. We describe the first case of this unusual association diagnosed in the neonatal period, the clinical findings and the molecular studies undertaken. CASE PRESEN...

The simultaneous occurrence of double aneuploidy in the same individual is a relatively rare phenomenon. Most of the previously reported cases of double trisomy were found in spontaneous abortions. We report on a male newborn presenting with typical clinical features of Edwards syndrome (trisomy 18), resulting from de novo, non-mosaic 18 trisomy with an additional X in the karyotype: 48, XXY, +...

The clinical features of 'Klinefelter' syndrome were first described by Klinefelter, Reifenstein, and Albright (1942). The true Klinefelter syndrome is chromatin-positive and is due to X chromosome polysomy, most frequently 47,XXY (Jacobs and Strong, 1959), but karyotypes with one or more X's or Y's additional to the XXY formula, such as 48,XXXY, 49,XXXXY, and mosaicisms of XXY with other stem-...