• Journal of mucopolysaccharidosis and rare diseases
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• 제3권2호
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• pp.41-43
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• 2017

Prader-Willi syndrome (PWS) is a genetic disorder that is considered, especially on child, to cause poor feeding, hypotonia, failure to thrive, developmental delay and hypogonadism which is known to affect between 1 in 10,000 and 30,000 people. The children with PWS are viewed as affected by growth hormone (GH) insufficiency, although the exact mechanisms of GH deficiency are not fully understood. However, the benefits of GH treatment in children with PWS are well established. Myers, et al. (2006), Grugni, et al. (2016) indicated its positive effects on linear growth, body composition, motor function, respiratory function and psychomotor development. Despite of its effectiveness and advantages had been well known and proven in many other studies, there is only one recombinant GH product that is approved for PWS in Korea, $Genotropin^{(R)}$, till now. A phase III clinical study of GH treatment with $Eutropin^{TM}$, in 34 Korean PWS children is in progress, which is expected to have comparable effects and safety profile with the active control by assessing auxological changes such as height standard deviation score, body composition changes such as lean body mass and percent body fat, motor and cognitive development using Bayley scale, and safety profiles.

• Investigative and Clinical Urology
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• 제59권6호
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• pp.399-409
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• 2018

Purpose: To analyze data from an observational, prospective, cumulative registry study in 805 hypogonadal men stratified by mild or moderate-to-severe lower urinary tract symptoms (LUTS) according to International Prostate Symptom Score. Materials and Methods: A total of 412 men underwent testosterone therapy (TTh) with injectable testosterone undecanoate, 393 men served as untreated controls. Measures of urinary function, anthropometric and metabolic parameters were performed at least twice per year. Results: Data from 615 men with mild LUTS (253 treated, 362 untreated) and 190 with moderate-to-severe LUTS (159 treated, 31 untreated) were available. During a follow-up period of 8 years a significant improvement of LUTS was noted for all TTh-patients whereas the control-groups showed deterioration or fluctuation around initial values. Despite advancing age, TTh fully prevented worsening of symptoms. In parallel, a considerable improvement of anthropometric parameters, lipids and glycemic control, blood pressure, C-reactive protein, and quality of life was found. Moderate-to-severe LUTS was associated with worse cardiometabolic risk profile at baseline as well as worse cardiovascular outcomes during follow-up in comparison to mild LUTS. Effect size of TTh was more pronounced in men with moderate-to-severe than with mild LUTS. Conclusions: Correcting hypogonadism by TTh is highly effective and safe for improving LUTS in hypogonadal men. TTh may also improve cardiometabolic risk and major adverse cardiovascular events.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제26권5호
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• pp.284-289
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• 2023

A 14-year-old girl was admitted to the emergency department for excessive bile-containing vomiting and severe abdominal pain. She had been healthy until she intentionally lost 25 kg over a 6-month period. Thick, bloody bile-mixed food particles were drained from the stomach through a nasogastric tube. Abdominal computed tomography revealed huge stomach dilatation with extensive gastric pneumatosis, possible near rupture, acute pancreatitis, and a very narrow third of the duodenum, indicating superior mesenteric syndrome. Gastrofibroscopy revealed multiple hemorrhagic ulcers and numerous beadlike cystic lesions in the stomach. Laboratory examination results were notable for severe deficiencies in critical nutrients, including iron, zinc, proteins, and prealbumin, as well as undernutrition-associated endocrine complications such as hypothyroidism and hypogonadotropic hypogonadism. Excessive vomiting ceased after the endoscopic removal of stagnant gastric contents. Gastric pneumatosis improved after 3 days of supportive care.

• 한국발생생물학회지:발생과생식
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• 제20권1호
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• pp.51-61
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• 2016

Neurokinin B (NKB) and neurokinin B related peptide (NKBRP) belong to tachykinin peptide family. They act as a neurotransmitter and/or neuromodulator. Mutation of NKB and/or its cognate receptor, NK3R resulted in hypogonadotropic hypogonadism in mammals, implying a strong involvement of NKB/NK3R system in controlling mammalian reproduction. Teleosts possess NKBRP as well as NKB, but their roles in fish reproduction need to be clarified. In this study, NKB and NKBRP coding gene (tac3) was cloned from Nile tilapia and sequenced. Based on the sequence, Nile tilapia NKB and NKBRP peptide were synthesized and their biological potencies were tested in vitro pituitary culture. The synthetic NKBRP showed direct inhibitory effect on the expression of GTH subunits at the pituitary level. This inhibitory effect was confirmed in vivo by means of intraperitoneal (ip) injection of synthetic NKB and NKBRP to mature female tilapia (20 pmol/g body weight [BW]). Both NKB and NKBRP had no effect on the plasma level of sex steroids, E2 and 11-KT. However, NKBRP caused declines of expression level of GnRH I, Kiss2 and tac3 mRNAs in the brain while NKB seemed to have no distinct effect. These results indicate some inhibitory roles of NKBRP in reproduction of mature female Nile tilapia, although their exact functions are not clear at the moment.

• 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.

• Clinical and Experimental Pediatrics
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• 제45권9호
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• pp.1141-1145
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• 2002

Klinefelter 증후군에서는 여러 가지 선천성 기형을 동반하지만 신장의 기형은 드믄 편이며 현재까지 49, XXXXY 증후군에서 다낭성 신이 동반된 경우가 있었고, 47, XXY 증후군에서는 편측성 신 형성부전이 동반된 경우가 보고되었으나 다낭성신 이형성의 보고는 없었다. 따라서 저자들은 신생아기에 발견된 편측 다낭성 신이형성이 동반된 Klinefelter 증후군 1례를 경험하였기에 보고하는 바이다.

• Journal of Yeungnam Medical Science
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• 제31권1호
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• pp.61-64
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• 2014

Craniopharyngiomas are rare primary intracranial tumors. Despite their benign histological appearance, they are often associated with an unfavorable prognosis. The typical manifestations upon diagnosis are headache, visual impairment, polyuria/polydypsia, growth retardation, disturbance of pubertal development, and significant weight gain. The treatment options include radical surgery or radiotherapy, or a combination of these modalities. Slipped capital femoral epiphysis (SCFE) is the most common adolescent hip disorder. SCFE occurs when the capital femoral epiphysis displaces posteriorly on the femoral neck at the level of the physis. The etiology of SCFE is thought to be multifactorial and may include obesity, growth surges, and less common endocrine disorders. The related endocrine disorders include hypothyroidism, growth hormone supplementation, hypogonadism, and panhypopituitarism. Reported herein is a case of panhypopituitarism caused by craniopharyngioma combined with SCFE.

• Journal of Yeungnam Medical Science
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• 제34권2호
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• pp.260-264
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• 2017

Klinefelter's syndrome is the most common congenital abnormality that causes primary hypogonadism. It is associated with diseases that predominantly affect women, such as systemic lupus erythematosus (SLE), and it can sometimes cause veno-occlusive disease. We experienced a case of Budd-Chiari syndrome (BCS) in a 33-year-old man with Klinefelter's syndrome presented with hematemesis and edema in both lower extremities. The clinical and laboratory findings were compatible with SLE, antiphospholipid syndrome, and BCS. To the best of our knowledge, this is the first case report to describe a simultaneous presentation of these four clinical syndromes in a single patient.

• Clinical and Experimental Reproductive Medicine
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• 제41권1호
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• pp.29-32
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• 2014

Objective: To investigate the causes of amenorrhea in Korean women. Methods: Medical records from 1,212 women with amenorrhea who visited the Department of Obstetrics and Gynecology, Asan Medical Center, between January 1989 and December 2011 were retrospectively reviewed. Amenorrhea was categorized as either primary or secondary. Results: Primary amenorrhea was identified in 132 of the patients (10.9%) and secondary amenorrhea in 1,080 (89.1%). The most frequent causes of primary amenorrhea were gonadal dysgenesis (28.0%, 37/132); Mayer-Rokitansky-K$\ddot{u}$ster-Hauser syndrome (20.0%, 27/132); and constitutional delay and androgen insensitivity syndrome (8.3%, 11/132; 8.3%, 11/132, respectively). Secondary amenorrhea was due to polycystic ovary syndrome (48.4%, 523/1,080); premature ovarian insufficiency (14.0%, 151/1,080); and nutrition-related hypogonadotropic hypogonadism (8.3%, 90/1,080). Conclusion: In this retrospective study, gonadal dysgenesis was the most common cause of primary amenorrhea and polycystic ovary syndrome was the most common cause of secondary amenorrhea in Korean women.

• Journal of Applied Biological Chemistry
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• 제63권4호
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• pp.451-455
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• 2020

Testosterone deficiency syndrome (TDS), also known as late-onset hypogonadism, is a clinical and biochemical syndrome associated with advanced age and characterized by deficient serum testosterone levels. The Elaeagnus multiflora fruit (EMF) and Cynanchum wilfordii (CW) have been used in traditional herbal medicine. This study aimed to investigate the therapeutic effects of EMF and CW mixtures (at the ratios of 3:7, 5:5, and 7:3) on TDS using TM3 cells and aging male rats. EMF, and mixtures of EMF and CW (at the ratios of 3:7, 5:5, and 7:3) significantly increased testosterone levels in TM3 cells (p <0.05). The rats were orally administered EMCW (EMF and CW mixed at the ratio of 3:7 50, 100 and 200 mg/kg/day) for 4 weeks consecutively. After 4 weeks of EMCW administration, latency time on the rotarod test, and serum testosterone and dehydroepiandrosterone sulfate levels were significantly increased (p <0.05 and p <0.01). Moreover, the levels of globulin-bound sex hormones were decreased in the EMCW-fed groups. However, prostate-specific antigen levels did not differ among the groups. These results suggest that EMCW can be effectively used to alleviate TDS.