• Journal of the Korean Child Neurology Society
• /
• v.26 no.4
• /
• pp.276-279
• /
• 2018

Klinefelter syndrome a genetic disorder with various clinical manifestations. Neurological symptoms, such as seizures, are rarely reported with Klinefelter syndrome, and it response well to anti-epileptic drugs. A 5-month-old boy visited the Inha university hospital due to jerking movements and hiccups. The patient had been diagnosed with Klinefelter syndrome at birth and had a medical history of admission to the neonatal intensive care unit due to opisthotonus and ocular deviation at 26 days of age. The patient's serum testosterone level was decreased and his anti-$M{\ddot{u}}llerian$ hormone level was increased. The brain image examination was normal and the electoencephalography and other blood test results showed no specific findings. However, after admission, the patient recurred generalized tonic-clonic-seizures recurred intermittently even after the administration of antiepileptic drugs. This paper reports a case of non-febrile seizures in a child with Klinefelter syndrome who presented with a refractory course.

• 대한생식의학회:학술대회논문집
• /
• 2003.12a
• /
• pp.81.1-81.1
• /
• 2003

• 대한생식의학회:학술대회논문집
• /
• 2003.12a
• /
• pp.119.2-120
• /
• 2003

• Clinical and Experimental Reproductive Medicine
• /
• v.31 no.4
• /
• pp.253-260
• /
• 2004

Objectives: Klinefelter syndrome is the most common genetic cause of male infertility and presents with 47, XXY mainly or 46, XX/47, XXY mosaicism. It is characterized by hypogonadism and azoospermia due to testicular failure, however, sporadic cases of natural pregnancies have been reported. With the development of testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI), sperm can be retrieved successfully and ART is applied in these patients for pregnancy. It has been suggested that the risk of chromosome aneuploidy for both sex chromosome and autosome is increased in the sperms from 47, XXY germ cells. Considering the risk for chromosomal aneuploidy in the offspring, preimplantation genetic diagnosis (PGD) could be applied as a safe and more effective treatment option in Klinefelter syndrome. The aim of this study is to assess the outcome of PGD cycles by using FISH for sex chromosome and autosome in patients with Klinefelter syndrome. Materials and Methods: From Jan. 2001 to Dec. 2003, PGD was attempted in 8 cases of Klinefelter syndrome but TESE was failed to retrieve sperm in the 3 cases, therefore PGD was performed in 8 cycles of 5 cases (four 47, XXY and one 46, XY/47, XXY mosaicism). In one case, ejaculated sperm was used and in 4 cases, TESE sperm was used for ICSI. After fertilization, blastomere biopsy was performed in $6{\sim}7$ cell stage embryo and the chromosome aneuploidy was diagnosed by using FISH with CEP probes for chromosome X, Y and 17 or 18. Results: A total of 127 oocytes were retrieved and ICSI was performed in 113 mature oocytes. The fertilization rate was $65.3{\pm}6.0%$ (mean$\pm$SEM) and 76 embryos were obtained. Blastomere biopsy was performed in 61 developing embryos and FISH analysis was successful in 95.1% of the biopsied blastomeres (58/61). The rate of balanced embryos for chromosome X, Y and 17 or 18 was $39.7{\pm}6.9%$. The rate of aneuploidy for sex chromosome (X and Y) was $45.9{\pm}5.3%$ and $43.2{\pm}5.8%$ for chromosome 17 or 18, respectively. Embryo transfer was performed in all 8 cycles and mean number of transferred embryos was $2.5{\pm}0.5$. In 2 cases, clinical pregnancies were obtained and normal 46, XX and 46, XY karyotypes were confirmed by amniocentesis, respectively. Healthy male and female babies were delivered uneventfully at term. Conclusion: The patients with Klinefelter syndrome can benefit from ART with TESE and ICSI. Considering the risk of aneuploidy for both sex chromosome and autosome in the sperms and embryos of Klinefelter syndrome, PGD could be offered as safe and more effective treatment option.

• Clinical and Experimental Reproductive Medicine
• /
• v.33 no.3
• /
• pp.179-187
• /
• 2006

Objectives: The risk of aneuploidies of embryos increases in advanced maternal age or parental karyotype abnormality and it results in poor reproductive outcomes such as recurrent spontaneous abortion (RSA) or repeated implantation failure (RIF). Preimplantation genetic diagnosis for aneuploidy screening (PGD-AS) can be applied for better ART outcome by selecting chromosomally normal embryos. The aim of this study is to evaluate the clinical outcome of PGD-AS and which group can get much benefit from PGD-AS among the patients expected to have poor reproductive outcome. Methods: In 42 patients, 77 PGD cycles were performed for aneuploidy screening. Patients were allocated to 3 groups according to the indication of PGD-AS: group I-patients with old age (${\geq}37$) and RIF more than 3 times (n=11, mean age=42.2 yrs.), group II-patients with RSA (${\geq}3$ times) associated with aneuploid pregnancy (n=19, mean age=38.9 yrs.), group III-parental sex chromosome abnormality or mosaicism (n=18, mean age=29.6 yrs.) including Turner syndrome, Klinefelter syndrome and 47, XYY. PGD was performed by using FISH for chromosome 13, 16, 18, 21, X and Y in group I and II, and chromosome X, Y and 18 (or 17) in group III. Results: Blastomere biopsy was successful in 530 embryos and FISH efficiency was 92.3%. The proportions of transferable embryos in each group were $32.5{\pm}17.5%$, $23.0{\pm}21.7%$ and $52.6{\pm}29.2%$ (mean ${\pm}$ SD), respectively, showing higher normal rate in group III (group II vs. III, p<0.05). The numbers of transferred embryos in each group were $3.9{\pm}1.5$, $1.9{\pm}1.1$ and $3.1{\pm}1.4$ (mean ${\pm}$ SD), respectively. The clinical pregnancy rates per transfer was 0%, 30.0% and 20.0%, and it was significantly higher in group II (group I vs. group II, p<0.05). The overall pregnancy rate per transfer was 19.6% (10/51) and the spontaneous abortion rate was 20% (2/10) of which karyotypes were euploid. Nine healthy babies (one twin pregnancy) were born with normal karyotype confirmed on amniocentesis. Conclusion: Our data suggests that PGD-AS provides advantages in patients with RSA associated with aneuploidy or sex chromosome abnormality, decreasing abortion rate and increasing ongoing pregnancy rate. It is not likely to be beneficial in RIF group due to other detrimental factors involved in implantation.