No abstract available.
Fetus* ; Klinefelter Syndrome* ; Prenatal Diagnosis*

Diabetes Mellitus, Type 1 ; diagnosis ; etiology ; Humans ; Klinefelter Syndrome ; complications ; diagnosis ; Male

Klinefelter’s syndrome (KS) is the most common sex chromosome disease in men. Classical features of the syndrome include a eunuchoidal body habitus, small testes and hypergonadotrophic hypogonadism. There has been an increased risk of diabetes mellitus and autoimmune disease for KS patients. This paper reports a case of KS in association with type 1 diabetes mellitus. The patient was a 21-year-old man, who has been confirmed by absolute insulin deficiency and positive IA-2 autoantibody. The hyperinsulinemic euglycemic clamp test indicated his insulin sensitivity in normal range, and his blood glucose was controlled well by the insulin therapy.
Adult ; Diabetes Mellitus, Type 1 ; diagnosis ; etiology ; Humans ; Klinefelter Syndrome ; complications ; diagnosis ; Male ; Young Adult

Female ; Fertilization in Vitro ; Humans ; Klinefelter Syndrome/genetics* ; Pregnancy ; Preimplantation Diagnosis ; Sperm Injections, Intracytoplasmic

INTRODUCTIONWilliams syndrome (WS) is a rare but well recognised neurodevelopmental disease affecting the connective tissue and the central nervous system. Many patients are identified through the presence of dysmorphic features and associated cardiac abnormalities. Klinefelter syndrome (KS) is associated with gynaecomastia, small testes, azoospermia and elevated gonadotropin levels. They are recognised in the second decade of life by their tall stature and delay in pubertal development. A combination of constitutive WS and KS has yet to be described.

CLINICAL PICTUREWe report a child with these genetic aberrations, highlighting the clinical characteristics of such an individual.

CONCLUSIONThe manifestations and interactions of both conditions are also discussed.

Body Height ; Body Weight ; Child, Preschool ; Comorbidity ; Humans ; In Situ Hybridization, Fluorescence ; Klinefelter Syndrome ; diagnosis ; epidemiology ; Male ; Williams Syndrome ; diagnosis ; epidemiology

OBJECTIVE: Amniocentesis for the diagnosis of prenatal genetic abnormalities is now the standard care for women who are at special risk. because the application of population-based maternal serum screening to prenatal diagnosis is now widespread, we can estimate the trend change of amniocentesis indications. METHODS: Four hundred twenty eight women who were attending the antenaltal clinic of Hanyang University Hospital had a amniocentesis between January 1992 and June 1997. The result were analyzed in reference to indication of amniocentesis, gestational age, pregnancy outcome and karyotype. RESULT: The major indications were abnormal maternal serum marker(53.3%), advanced maternal age(23.8%), previous fetal chromosomal anomaly(7.9%) and the most common age distribution at amniocentesis was 25-29 years(37.9%). The pregnancy outcome was full-term delivery(84.2%), preterm delivery(13.7%), spontaneous abortion(1.4%) and termination of pregnancy(0.7%). Among the 33 cases(7.7%) of abnormal karyotype, structural aberration was 21 cases(4.9%) and numerical aberration was 12 cases(2.8%). Among the numerical aberration, six cases of trisomy 21, five cases of Klinefelter syndrome, and one case of Turner syndrome were found. Among the structural aberration, insertion was most common(nine cases), and seven cases of inversion, four cases of translocation and one case of deletion were found. CONCLUSION: This is a report of genetic amniocentesis, with analysis of the indication, gestational age, karyotype results and complication.
Abnormal Karyotype ; Age Distribution ; Amniocentesis* ; Diagnosis ; Down Syndrome ; Female ; Gestational Age ; Humans ; Karyotype ; Klinefelter Syndrome ; Mass Screening ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis* ; Turner Syndrome

OBJECTIVE: Amniocentesis for the diagnosis of prenatal genetic abnormalities is now the standard care for women who are at special risk. because the application of population-based maternal serum screening to prenatal diagnosis is now widespread, we can estimate the trend change of amniocentesis indications. METHODS: Four hundred twenty eight women who were attending the antenaltal clinic of Hanyang University Hospital had a amniocentesis between January 1992 and June 1997. The result were analyzed in reference to indication of amniocentesis, gestational age, pregnancy outcome and karyotype. RESULT: The major indications were abnormal maternal serum marker(53.3%), advanced maternal age(23.8%), previous fetal chromosomal anomaly(7.9%) and the most common age distribution at amniocentesis was 25-29 years(37.9%). The pregnancy outcome was full-term delivery(84.2%), preterm delivery(13.7%), spontaneous abortion(1.4%) and termination of pregnancy(0.7%). Among the 33 cases(7.7%) of abnormal karyotype, structural aberration was 21 cases(4.9%) and numerical aberration was 12 cases(2.8%). Among the numerical aberration, six cases of trisomy 21, five cases of Klinefelter syndrome, and one case of Turner syndrome were found. Among the structural aberration, insertion was most common(nine cases), and seven cases of inversion, four cases of translocation and one case of deletion were found. CONCLUSION: This is a report of genetic amniocentesis, with analysis of the indication, gestational age, karyotype results and complication.
Abnormal Karyotype ; Age Distribution ; Amniocentesis* ; Diagnosis ; Down Syndrome ; Female ; Gestational Age ; Humans ; Karyotype ; Klinefelter Syndrome ; Mass Screening ; Pregnancy ; Pregnancy Outcome ; Prenatal Diagnosis* ; Turner Syndrome

To provide current information on sex chromosome abnormalities to obstetricians andgynecologists who encounter such diagnoses and who counsel prospective parents faced withthe prenatal diagnosis of a sex chromosome abnormalities. I reviewed 116 patients' clinical data and results of karyotype which proven sexchromosome abnormalities in cytogenetic unit of Department of Ob. and Gyn., PNUH during theperiod of 1993. Aug.~1996. Dec.The results of the analysis of karyotyping in sex chromosome abnormalities in these 116cases are like following.1. Peak age group when diagnosed abnormal sex chromosome is 26~35 years old inmen(46 among 56 cases) and 16~30 years old in women(40 among 60 cases).2. The most common primary reason of abnormal sex chromosome is sterility inmen(48 among 56 cases) and amenorrhea in women(36 among 60 cases).3. The most common referred primary reason in Klinefelters syndrome issterility(44 among 49 cases) and in Turners syndrome is primary amenorrhea(27 among55 cases).4. The most common type of abnormal sex chromosome is Klinefelters syndrome inmen(49 among 56 cases) and Turners syndrome in women(55 among 60 cases).5. In my 116 cases of abnormal sex chromosome, numerical abnormalities are 67 cases,mosaicisms 28 cases, structural abnormalities 13 cases, XY female 6 cases, and XX male2 cases. So the most common abnormal sex chromosome is numerical abnormality.6. In my 55 cases of Turners syndrome, XO karyotypes are 26 cases, X, abnormal X are11 cases, and mosaic pattern are 18 cases. So the most common karyotype in Turnerssyndrome is standard pattern(45,X).In conclusion, abnormal sex chromosome were very important causes of infertility,amenorrhea, abnormal pubertal development, ambiguous genitalia, and stature. Therefore,these patients must taken cytogenetic study, and obstetrics and gynecologists provideaccurate and comprehensive genetic counseling.
Amenorrhea ; Chromosome Aberrations* ; Cytogenetics ; Diagnosis ; Disorders of Sex Development ; Female ; Genetic Counseling ; Humans ; Infertility ; Karyotype ; Karyotyping ; Klinefelter Syndrome ; Obstetrics ; Parents ; Prenatal Diagnosis ; Sex Chromosome Aberrations ; Sex Chromosomes ; Turner Syndrome

PURPOSE: Klinefelter syndrome is a chromosomal disorder present in 1 out of 400 to 1,000 male newborns in Western populations. Two-thirds of affected newborns show a karyotype of 47,XXY. Few studies have examined the incidence of Klinefelter syndrome in Korea. The aim of this study was to investigate the incidence of Klinefelter syndrome by use of prenatal screening tests. MATERIALS AND METHODS: From January 2001 to December 2010, 18,049 pregnant women who had undergone a chromosomal study for fetal anomalies were included. For fetuses that were diagnosed as having Klinefelter syndrome, the patients' medical records were retrospectively reviewed. Both parents' ages, the reason for the chromosomal studies, and karyotypes were investigated. RESULTS: We found that 22 of 18,049 (0.12%) fetuses were diagnosed with Klinefelter syndrome. The incidence of this disorder in male fetuses was 22 of 9,387 (0.23%). Also, 19 of the newborns (86.4%) showed a karyotype of 47,XXY; the other newborns showed karyotypes of 48,XXY,+21; 48,XXY,+12[12]/46,XY[54]; and 47,XXY[6]/45,X[1]/46,XY[95]. The mean age of the mothers was 36.1 years, and 2 women had a past history of a Down syndrome pregnancy. Nine mothers had a normal spontaneous delivery, 9 mothers underwent artificial abortion, and 2 fetuses were spontaneously aborted. CONCLUSIONS: The incidence of Klinefelter syndrome as reported in this study is higher than in previous studies. Further studies with a broader population should be considered to confirm these results.
Chromosome Disorders ; Down Syndrome ; Female ; Fetus ; Humans ; Incidence ; Infant, Newborn ; Infertility, Male ; Karyotype ; Klinefelter Syndrome ; Korea ; Male ; Medical Records ; Mothers ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis ; Retrospective Studies

Klinefelter's syndrome (KS) is a genetic syndrome that presents with hypogonadism and is associated with metabolic syndrome. Patients demonstrating hypogonadism show a greater prevalence of metabolic syndrome due to changes in body composition. We aimed to determine the association between KS and dyslipidemia. The KS group comprised 55 patients who visited the infertility clinic for an infertility evaluation and were confirmed as having a diagnosis of KS. The control group comprised 120 patients who visited the clinic for health screening. Patient characteristics were compared between the two groups with respect to height, weight, body mass index (BMI), testosterone, total cholesterol, high-density lipoprotein (HDL) cholesterol, low-density lipoprotein (LDL) cholesterol, and triglyceride (TG) levels. Height and weight were significantly greater in patients belonging to the KS group, but no statistically significant difference was found with respect to the BMI. Testosterone levels in patients belonging to the KS group were significantly lower compared to the control group (2.4 ± 2.6 vs. 5.2 ± 1.8 ng/mL, P < 0.001). Compared to the control group, TG levels in patients belonging to the KS group were increased (134.9 ± 127.8 vs. 187.9 ± 192.1 mg/dL, P = 0.004) and HDL cholesterol was significantly decreased (51.2 ± 22.0 vs. 44.0 ± 9.5 mg/dL, P = 0.009). LDL cholesterol and total cholesterol were not significantly different between the two groups (P = 0.076 and P = 0.256, respectively). Significant differences were noted between patients belonging to the KS group and normal control group with respect to elevated TG and decreased HDL cholesterol levels.
Body Composition ; Body Weight ; Cholesterol ; Cholesterol, HDL ; Cholesterol, LDL ; Diagnosis ; Dyslipidemias* ; Humans ; Hypogonadism* ; Infertility ; Klinefelter Syndrome* ; Lipoproteins ; Mass Screening ; Prevalence ; Testosterone ; Triglycerides