• Clinical and Experimental Reproductive Medicine
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• 제50권3호
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• pp.192-199
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• 2023

Objective: This study was conducted to investigate chromosomal abnormalities and their correlations with clinical and radiological findings in females with primary amenorrhea (PA). Methods: Detailed forms were recorded for 470 females, including the construction of three-generation pedigrees. Peripheral venous blood was drawn, with informed consent, for cytogenetic analysis. Results: An abnormal karyotype was found in 16.38% of participants. The incidence of structural abnormalities (6.8%) exceeded that of numerical abnormalities (6.15%). Turner syndrome represented 45% of all numerical abnormalities. Furthermore, the Y chromosome was detected in 5% of females with PA. Among the structural chromosomal abnormalities detected (n=32) were mosaicism (25%), deletions (12.5%), isochromosomes (18.75%), fragile sites (3.12%), derivatives (3.12%), marker chromosomes (3.12%), and normal variants (29.125%). An examination of secondary sexual characteristics revealed that 29.6% of females had a complete absence of breast development, 29.78% lacked pubic hair, and 36.88% exhibited no axillary hair development. Radiological findings revealed that 51.22% of females had a hypoplastic uterus and 26.66% had a completely absent uterus. Abnormal ovarian development, such as the complete absence of both ovaries, absence of one ovary, one absent and other streak, or both streak ovaries, was observed in 69.47% of females with PA. Additionally 43.1%, 36.1%, 67.4%, and 8% of females had elevated levels of serum follicle-stimulating hormone, luteinizing hormone, thyroid-stimulating hormone, and prolactin, respectively. Conclusion: This study underscores the importance of karyotyping as a fundamental diagnostic tool for assessing PA. The cytogenetic correlation with these profiles will aid in genetic counseling and further management of the condition.

• Clinical and Experimental Reproductive Medicine
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• 제25권3호
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• pp.293-297
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• 1998

Hypogonadotropic hypogonadism, or the lack of function of the testis or ovary secondary to the lack of pituitary and or hypothalamic trophic hormones, is also sometimes generally termed Kallmann's syndrome. Whether such deficiencies arise from an inborn error of hypothalamic organization and pituitary connection or damage to the hypothalamic pituitary system in prepubertal life, the manifestations of a eunuchoid or apubertal individual with potentially competent pituitary and gonadal function will result. Beyond the achievement of puberty, a similar situation can be recreated by the administration of a long-acting GnRH analog or by conditions of secondary hypothalamic dysfunction such as anorexia nervosa where shutdown of GnRH and its resultant effects cause cessation of gonadal function and even a regression of secondary sexual characteristics. Technically, these conditions are not Kallmann's syndrome but one must recognize the similarities. We have experienced a case of isolated gonadotropin deficiency which showed a negative KALIG-1 gene in infertile patient with primary amenorrhea. So we report this case with a brief review of literatures.

• Journal of Genetic Medicine
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• 제8권1호
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• pp.67-70
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• 2011

체질성 8삼염색체 모자이시즘은 비교적 드문 염색체 이상으로 특이한 두개안면 모양 (변형 두개골, 돌출된 이마, 낮거나 변형된 귀), 골격계 기형, 심장 기형, 신장 기형, 잠복고환, 다양한 정도의 발달지체 등의 특징적인 표현형을 갖는다. 그 표현형과 세포유전학적 표현의 다양성 때문에 특정 질환이 생기기 전까지 진단이 늦어지기도 한다. 전형적인 표현형 없이 속발성 무월경을 동반한 28세 여성에서 발견된 체질성 8삼염색체 모자이시즘(47,XX,+8[9]/46,XX[41])을 보고한다.

• Clinical and Experimental Reproductive Medicine
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• 제31권3호
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• pp.149-154
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• 2004

Objective: To assess the association with autoimmune endocrine diseases and detection rate of autoimmune antibodies and its clinical significance in patients with premature ovarian failure. Methods: Twenty eight patients with primary or secondary amenorrhea manifesting hormonal and clinical features of premature ovarian failure (primary POF: 7, secondary POF: 21) were investigated. We tested them TFT, 75 g OGTT, ACTH and S-cortisol for thyroiditis, IDDM, Addison's disease, and antithyoglobulin antibody, antimicrosomal antibody, antinuclear antibody, rheumatic factor, anti-smooth muscle antibody, anti-acetylcholine receptor antibody for non-organ specific autoimmune disorders. Results: Only one patient was diagnosed as IDDM and no patients had abnormal TFT or adrenal function test. More than one kind of autoantibody was detected in 11 patients of all (39.2%): 5 patients (71.4%) of primary POF group and 6 patients (21.4%) of secondary POF group. Eleven patients (39.3%) had antithyroglobulin antibody, 4 (14.3%) had antimicrosomal antibody, 2 (7.1%) had antinuclear antibody, 2 (7.1%) had rheumatic factor, 1 (3.6%) had anti-smooth muscle antibody, 1 (3.6%) had anti-acetylcholine receptor antibody. Conclusions: Premature ovarian failure may occur as a component of an autoimmune polyglandular syndrome, so patients should be measured with free thyroxine, thyroid-stimulating hormone, fasting glucose and electrolytes. Measurement of thyroid autoantibodies in POF patients may be important in identifying patients at risk of developing overt hypothyoidism, but other autoantibodies may not be suitable for screening test.

• Clinical and Experimental Pediatrics
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• 제45권9호
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• pp.1165-1169
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• 2002

저자들은 근 경련에 의한 근육통과 전신성 탈모증으로 내원하여 Satoyoshi 증후군으로 진단된 1례를 경험하였기에 보고하는 바이며, 근 경련에 탈모증이 동반된 환아의 진단에 있어 Satoyoshi 증후군을 고려해야 할 것으로 사료된다.

• 대한임상검사과학회지
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• 제49권4호
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• pp.495-497
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• 2017

Thalassemia major is a genetic disorder with a defective synthesis of either the alpha or the beta chain of hemoglobin A. Blood transfusion is crucial for the survival in these patients. Unfortunately, endocrine dysfunction is a very common complication in these patients and is principally due to excessive iron overload as a result of frequent blood transfusions. Although regular blood transfusion may increase life expectancy, disturbances in growth and pubertal development, abnormal gonadal functions, impaired thyroid, parathyroid and adrenal functions, diabetes, and disorderly bone growth are common side effects. We hereby present a case of a 23-year-old, unmarried woman with beta thalassemia major presenting with primary amenorrhea, poor development of secondary sexual character, and short stature. Thorough history, clinical examination, and laboratory investigation, including dynamic function test (insulin tolerance test) were conducted. These tests confirmed that she had multiple endocrinopathies, including hypogonadotropic hypogonadism, growth hormone deficiency, and subclinical adrenal insufficiency, which were caused by iron overload. She required hormone replacement therapy. Early recognition of possible deficiencies in hypothalamo-pituitary-end organ hormones caused by iron overload in thalassemia patients that undergo frequent blood transfusion procedures is essential. Appropriate treatments, including transfusion regimen and chelation therapy, as well as specific treatment of each complication are the crucial for the successful management and improvement of quality of life these patients.

• 대한한방부인과학회지
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• 제34권3호
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• pp.175-191
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• 2021

Objectives: This study aims to analyze the medical record of eight cases of polycystic ovary syndrome (PCOS) in a local Korean medicine clinic, in order to provide evidence on Korean medicine treatment of PCOS and to suggest the direction of future studies. Methods: The medical records of eight cases diagnosed with PCOS based on 2003 Rotterdam Criteria and whose total testosterone level was 0.53 ng/ml and over were retrospectively analyzed. The primary outcome was total testosterone level, and the secondary outcomes included luteinizing hormone (LH) and follicle stimulating hormone (FSH) levels, LH/FSH ratio, weight, last mentrual period (LMP), numerical rating scale (NRS) score of dysmenorrhea, and other associated symptoms pre- and post-treatment. Korean medicine treatment consists of the complex herbal prescription consisting of Yukmijihwang-tang, Baekho-tang, Daesiho-tang, and Gyejibokryeong-hwan, modified according to symptoms; acupuncture and electroacupuncture on 中脘 (CV12), 下脘 (CV10), 關元 (CV4), 石門 (CV5), 合谷 (LI4), 太衝 (LR3), 三陰交 (SP6), and 懸鍾 (GB39); and indirect moxibustion on 神闕 (CV8). Results: The average total testosterone level lowered statistically significantly after the treatment. The average FSH and LH levels lowered with insignificance, while the average LH/FSH ratio and weight lowered statistically significantly. During the treatment period of three to six months, every patient had the menstrual cycle shortened except for one case; and two cases with infertility problem succeeded in being pregnant. There was no adverse event. Conclusions: The Korean medicine treatment was found effective in treating PCOS, especially regarding hyperandrogenism, amenorrhea or oligomenorrhea, and infertility.