• Title/Summary/Keyword: Endocrinologic study

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Cytogenetic Study and Clinical Features in Patients with Klinefelter's Syndrome and Y Chromosomal Abnormalities (Klinefelter 증후군 및 Y염색체 이상으로 진단된 환자들의 염색체 결과 및 임상 양상)

  • Moon, Shin-Yong;Choi, Seok-Tae;Ko, Hee-Jung;Oh, Sun-Kyung;Han, Jung-Ho;Suh, Chang-Suk;Kim, Seok-Hyun;Choi, Young-Min;Kim, Jung-Gu;Lee, Jin-Yong
    • Clinical and Experimental Reproductive Medicine
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    • v.26 no.1
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    • pp.43-54
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    • 1999
  • Klinefelter's syndrome is a very important disease in gynecologic endocrinologic fields, because the patients with this karyotype complain of infertility, azospermia and ambiguous genitalia. Y chromosome is an important chromosome which determine genetic sex and the structure of gonad and genitalia. In this study, to elucidate the cytogenetic characteristics and clinical features of Klinefelter's syndrome and Y chromosomal abnormalities in Korea, we studied 303 cases of Klinefelter's syndrome and 11 cases of Y chromosomal abnormalities which were diagnosed by chromosomal analysis at the Cytogenetic Laboratory, Institute of Reproductive Medicine and Population, Seoul National University for 12 years from January 1984 to December 1996. The results of this study showed as follows: 1. In a total of 9275 cases, there were 303 cases (3.3%) of Klinefelter's syndromes, 11 cases (0.1%) of Y chromosomal abnormalities. 2. In 102 cases of patients showed typical clinical features of Klinefelter's syndrome, 101 cases (99%) of them were diagnosed to Klinefelter's syndrome in karyotyping. 3. In 303 cases of Klinefelter's syndrome, there were 277 cases (91.4%) of 47,XXY complement, 16 cases (5.3%) of mosaicism, 2 cases (0.7%) of 48,XXXY, 5 cases (1.7%) of 48,XXYY and 3 cases (1.0%) of 49,XXXXY. 4. In 303 cases of Klinefelter's syndrome, 284 cases (93.7%) of them were diagnosed after puberty and only 19 cases (6.3%) of them were diagnosed before puberty. 5. In 303 cases of Klinefelter's syndrome, there were 146 cases (48.2%) of patients with infertility-associated chief complaints, 101 cases (33.3%) of patients with typical clinical features of Klinefelter's syndrome, 22 cases (7.3%) of patients with ambiguous genitalia. 6. In patients with Klinefelter's syndrome, 48,XXYY and 49,XXXXY had serious symptoms such as mental retardation, developmental delay, Down syndrome-like features, congenital anomalies, but 48,XXYY and other mosaicisms had infertility-associated symptoms or ambiguous genitalia. 7. The 8 cases of polysomy Y (XYY complement) showed several serious symptoms such as Down syndrome-like features, mental retardation, fragile X syndrome-like feature, congenital anomalies, ambiguous genitalia which could be detected before puberty.

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The Effects of Cuscuta Semen on a Hypothyroidism Rat Model induced by Propylthiouracil(PTU) (토사자가 PTU로 유발된 갑상선기능저하증 Rat에 미치는 영향)

  • Kang, Ji-Suck;Park, Sung-Hwan;Han, Su-Ryun;Ahn, Young-Min;Ahn, Se-Young;Lee, Byung-Cheol
    • The Journal of Internal Korean Medicine
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    • v.31 no.3
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    • pp.425-436
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    • 2010
  • Objectives : Hypothyroidism is a relatively common endocrinologic disease, especially among older women. Western medical doctors treat hypothyroidism with levothyroxine, however there are several side effects, including thyrotoxicosis, atrial fibrillation, osteoporosis, etc. Therefore, traditional Korean medicine(TKM) offers an appealing alternative therapy for hypothyroidism. In this study, Cuscuta Semen was used to analyze its possible effect on a hypothyroidism rat model induced by propylthiouracil(PTU). Methods : 24 two-month-old Sprague-Dawley(SD) rats were divided into 4 groups: normal (n=6), PTU-induced hypothyroidism control(n=6), hypothyroidism rat treated with Cuscuta Semen (n=6), and hypothyroidism rat treated with levothyroxine(n=6). PTU was administered for 4 weeks, Cuscuta Semen and levothyroxine was administered 2 weeks after PTU was initiated for a total duration of 2 weeks. Blood samples from all the rats were taken from their hearts and analyzed. Results : When compared to the normal group, the PTU-induced control group showed significantly lower $T_4$, $T_3$ levels and significantly higher TSH level, which is indicative of hypothyroidism. The Cuscuta Semen group had significantly higher $T_4$ and significantly lower TSH than the control group(p<0.05). There was no significant difference in biochemical labs and weight between the Cuscuta Semen and control groups. Conclusions : These results suggest that Cuscuta Semen could be effective in increasing thyroid hormone production, and be powerful enough to affect the hypothalamus-pituitary-thyroid axis. Also, no adverse effects related with Cuscuta Semen were found, suggesting that it is relatively safe to administer. In conclusion, it seems that Cuscuta Semen is a safe alternative medicine for hypothyroidism.

Estimated Factors and Clinical Characteristics of Children Diagnosed with Idiopathic Precocious Puberty (특발성 진성 성조숙증으로 진단된 소아의 원인 및 임상적 분석)

  • Kim, Ki-Hoon;Shin, Dong-Gil;Kim, Dae-Hyun
    • The Journal of Pediatrics of Korean Medicine
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    • v.25 no.2
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    • pp.111-120
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    • 2011
  • Objectives: The purpose of this study is to estimate genetic and environmental factors, which can affect Idiopathic true Precocious puberty, and to evaluate the clinical and endocrinologic characteristics. Methods: Retrospective and Comparative analysis of 76 children (72 girls and 4 boys) has been diagnosed with idiopathic true precocious puberty, and treated with GnRHa from December 2008 to July 2011. Results: 1. The Average chronological age (CA. yr) of children diagnosed with idiopathic true precocious puberty was $8.40{\pm}0.81$ (girls), $9.93{\pm}0.12$ (boys). 2. The Average height & weight percentile (%ile) of the girls diagnosed with idiopathic true precocious puberty was $67.38{\pm}22.04$, $67.69{\pm}23.20$. 3. The girls' mothers have diagnosed with idiopathic true precocious puberty, and they were shorter than the average. This shows that mother's small height and idiopathic true precocious puberty are closely related to each other. 4. BMI percentile (%ile) of girls diagnosed with idiopathic true precocious puberty was $63.26{\pm}24.86$. 23.6% of children were diagnosed with overweight or obesity. This result shows that obesity and idiopathic true precocious puberty are proportionally related. 5. Birth weights (kg) of the children diagnosed with idiopathic true precocious puberty were $3.16{\pm}0.43$ (girls), $3.15{\pm}0.38$ (boys). 8.3% of children were diagnosed with Intrauterine growth retardation. 6. The Average bone ages (BA. yr) of the children diagnosed with idiopathic true precocious puberty were $10.51{\pm}0.99$ (girls), $12.10{\pm}0.97$ (boys). The Average BA-CA was $2.11{\pm}0.81$ (girls), $2.00{\pm}0.87$ (boys). 7. The Average predicted adults' height (PAH. cm) of the children diagnosed with idiopathic true precocious puberty was $151.61{\pm}4.00$ (girls), $163.50{\pm}2.15$ (boys). The Average MPH-PAH was $6.84{\pm}4.91$ (girls), $6.00{\pm}5.35$ (boys). 8. 23.6% of the children treated with GnRHa were co-treated with Growth Hormone. Conclusions: Estimated factors which cause Idiopathic true precocious puberty are mother's small height, obesity, and Intrauterine growth retardation. However, the studies of Oriental Medicine for Idiopathic true precocious puberty were lacking. Further clinical and experimental researches are needed.

Radiation Therapy of Intracranial Germinoma (두개강내 배아종의 방사선 치료)

  • Nho Young Ju;Chang Hyesook;Choi Eun Kyung;Kim Jong Hoon
    • Radiation Oncology Journal
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    • v.15 no.3
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    • pp.207-213
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    • 1997
  • Purpose : Intracranial germinoma is the most radiocurable tumor of theprimary intracranial neoplasm. But, the optimum radiation dose and target volume remain controversial In this retrospective study, we analysed the spreading pattern at presentation and the pattern of the failure and survival of intracranial germinoma, Materials and Methods : From 1989 to 1996, 23 Patients were treated for intracranial germinoma at Department of Radiation Oncology, Twenty-one Patients were treated at their initial Presentation and 2 Patients were treated for recurrent disease. Six patients had multiple tumor masses on MRI and 7patients had ventricular seeding on MRI. The examination of cerebrospinal fluid cytology was done in 15 patients and 3 out of 15 patients had positive cerebrospinal cytology. In tumor marker study of $\alpha-FP\;and\;\beta-hCG$, 6 patients had mildly elevated $\beta-hCG$ in serum or cerebrospinal fluid. Twentyone Patients were treated with whole craniospinal axis irradiation and 2 Patients were given whole ventricular radiation therapy. The total dose was ranged between 4500cGy and 5600cGy to primary tumor site (median 5580cGy) Dose to the entire ventricular system ranged from 1980cGy to 3960 cGy (median 2700cGy) and dose to the spinal axis ranged from 2160cGy to 3900cGy (median 2700cGy) Results : Of 23 patients, 21 Patients are alive without evidence of diseasefor median 4 years follow-up. One Patient who had markedly elevated $\alpha-FP\;and\;\beta-hCG$, suffered from Persistent disease after radiation therapy and received 2 cycles of chemotherapy. She died 9 months after chemotherapy One patient who developed ventricular seeding after gamma-knife was treated with whole craniospinal irradiation, he died after 1 year due to probably brain necrosis. The hematologic toxicity of 3 or 4 grade were seen in 7 patients and patient's endocrinologic dysfunction was not deteriorated after radiation therapy. One patient had been treated with growth hormone replacement due to short stature. Conclusions : This retrospective study has confirmed the excellent result of radiation therapy in intracranial germinoma. The complication rate during or after radiation therapy is considered within acceptable range. ft is necessary to further investigate the optimal dose and treatment volume of radiation therapy. The role of chemotherapy in the treatment of intracranial germinoma should be further investigated.

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