The impact of prenatally diagnosed Klinefelter Syndrome on obstetric and neonatal outcomes.

OBJECTIVE: The objective of this study was to examine the obstetric and neonatal outcomes as well as the as the associated hospital costs for pregnancies complicated by prenatally diagnosed Klinefelter Syndrome, 47,XXY. STUDY DESIGN: We conducted a retrospective cohort study of all of the singleton deliveries in California from 2005 to 2008 using vital statistics and ICD-9 data, specifically identifying cases of fetal Klinefelter Syndrome. Specifically, we were interested in the outcomes of preterm delivery, preeclampsia, intrauterine fetal demise, cesarean delivery, neonatal death, respiratory distress syndrome (RDS), small for gestational age, large for gestational age, neonatal death, and infant death. Bivariate and multivariate analyses were used to compare pregnancies and neonates affected by prenatally diagnosed Klinefelter Syndrome to those that were not affected with 47,XXY. RESULTS: There were 2,029,000 deliveries in the cohort, including 52 women with prenatally diagnosed 47,XXY. Advanced maternal age, completion of 12th grade, and private insurance were all associated with a prenatal diagnosis of Klinefelter Syndrome. Compared to unaffected deliveries, pregnancies complicated by prenatally diagnosed Klinefelter Syndrome had higher rates of preterm delivery (23.1% vs 9.9%, p=0.0004), cesarean delivery (50.0% vs 30.2%, p=0.004), and RDS (9.6% vs 1.2%, p=<0.0001). Infants with 47,XXY were markedly more likely to be small for gestational age, including less than the 10th, 5th and 3rd percentile (aOR 5.86 (95% CI 2.99, 11.46), 6.03 (95% CI 2.52, 14.43), and 8.28 (95% CI 3.22, 21.25), p≤0.001). Rates of neonatal death were 9.5 times higher (1.9% vs 0.2% p<0.0001) in the 47,XXY cohort, and rates of infant death were more than 50 times higher (5.8% vs 0.1%, p<0.0001). In the adjusted analysis, prenatally diagnosed 47,XXY was associated with increased odds of preterm delivery <32 weeks (OR 6.81, 95% CI 2. .38, 19.52), IVH (OR 9.08, 95% CI 1.22, 67.7), RDS (OR 8.32, 95% CI 3.22, 21.49), neonatal death (OR 9.77, 1.33, 71.79), and infant death (OR 62.73, 95% CI 19.34, 203.4). CONCLUSION: Pregnancies affected by prenatally diagnosed Klinefelter Syndrome are at an increased risk of adverse fetal and neonatal outcomes. These findings may be helpful when counseling families with pregnancies affected by fetal 47,XXY.

Neuropsychology and socioeconomic aspects of Klinefelter syndrome: new developments.

PURPOSE OF REVIEW: To summarize recent important studies on neuropsychology and epidemiology of Klinefelter syndrome. PubMed was searched for 'Klinefelter', 'Klinefelter's' and 'XXY' in titles and abstracts. Relevant studies were obtained and reviewed, as well as other articles selected by the authors. RECENT FINDINGS: Klinefelter syndrome is the most common sex-chromosome disorder in humans, affecting one in 660 men. The key findings in Klinefelter syndrome are small testes, hypergonadotropic hypogonadism and cognitive impairment. Klinefelter syndrome scores significantly below education matched controls on a range of cognitive tests with verbal skills displaying the largest effects. Boys with Klinefelter syndrome are often in the need of speech therapy and many suffer from learning disability and may benefit from special education. New studies are elucidating aspects of cognitive functioning and suggesting that neuropsychological treatment may be of value. The socioeconomic status and educational level of Klinefelter syndrome is severely affected with many struggling to achieve any or only shorter education, resulting in low-income levels and early retirement. In addition, few become fathers and fewer live with a partner compared with controls. Medical treatment is mainly testosterone replacement therapy in order to alleviate acute and long-term consequences of hypogonadism, as well as, treating or preventing the frequent comorbidity. SUMMARY: The neurocognitive phenotype of Klinefelter syndrome is being unraveled and the need for psychological and cognitive treatment in many cases is evident. The neurocognitive deficits no doubt influence the socioeconomic status of many Klinefelter syndrome patients, which is clearly inferior to age-matched controls.

Síndrome de Klinefelter, insuficiencia venosa crónica y tromboembolismo pulmonar: a propósito de un caso / Klinefelter syndrome, chronic venous insufficiency and pulmonary thromoembolism: presentation of a case

El síndrome de Klinefelter (SK) es la forma más frecuente de hipogonadismo hipergonadotrófico del varón. Su asociación con la enfermedad tromboembólica venosa es bien conocida. La enfermedad tromboembólica venosa engloba la trombosis venosa profunda y el tromboembolismo pulmonar). Esta última patología es una entidad de difícil diagnóstico y potencialmente mortal que requiere una adecuada anamnesis y exploración física. Presentamos el caso de un paciente de 36 años con síndrome de Klinefelter que solicitó la asistencia de su médico de Atención Primaria por disnea (AU)

Klinefelter Syndrome is the most common form of hypergonadotrophic hypogonadism in the male. Its association with venous thromboembolic disease is well known. Venous thromboembolic disease includes deep vein thrombosis and pulmonary thromboembolism). This last condition is difficult to diagnose and is potentially fatal and requires na adequate anamnesis and physical examination. We present a case of a 36 year-old patient with Klinefelter syndrome who visited his Primary Care doctor for dyspnoea (AU)