• Annals of Pediatric Endocrinology and Metabolism
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• 제23권4호
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• pp.176-181
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• 2018

Noonan syndrome (NS) is an autosomal dominant disorder that involves multiple organ systems, with short stature as the most common presentation (>70%). Possible mechanisms of short stature in NS include growth hormone (GH) deficiency, neurosecretory dysfunction, and GH resistance. Accordingly, GH therapy has been carried out for NS patients over the last three decades, and multiple studies have reported acceleration of growth velocity (GV) and increase of height standard deviation score (SDS) in both prepubertal and pubertal NS patients upon GH therapy. One year of GH therapy resulted in almost doubling of GV compared with baseline; afterwards, the increase in GV gradually decreased in the following years, showing that the effect of GH therapy wanes over time. After four years of GH therapy, ~70% of NS patients reached normal height considering their age and sex. Early initiation, long duration of GH therapy, and higher height SDS at the onset of puberty were associated with improved final height, whereas gender, dosage of GH, and the clinical severity did not show significant association with final height. Studies have reported no significant adverse events of GH therapy regarding progression of hypertrophic cardiomyopathy, alteration of metabolism, and tumor development. Therefore, GH therapy is effective for improving height and GV of NS patients; nevertheless, concerns on possible malignancy remains, which necessitates continuous monitoring of NS patients receiving GH therapy.

• Journal of mucopolysaccharidosis and rare diseases
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• 제1권2호
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• pp.49-53
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• 2015

Prader-Willi syndrome (PWS) is a complex multisystem genetic disorder characterized by hypothalamic-pituitary dysfunction. Many features of PWS indicate a deficiency in growth hormone (GH) production, and these findings provide a rationale for GH therapy in PWS. It is possible that rhGH therapy could have beneficial effects in adults with PWS, similar to those in adults with GH deficiency (GHD) of non-syndromic cause. However, there is a paucity of data on the use of GH in adults with PWS. Here, the previous studies about efficacy and safety of rhGH therapy in PWS adults are summarized. Briefly, rhGH therapy in PWS adults may improve body composition, leading to increased lean body mass and decreased fat mass, as well as decreased subcutaneous and visceral adiposity without overall changes in body mass index. There may be at least transient deterioration in glucose homoeostasis in some PWS patients on rhGH therapy, which requires further study. In addition, clinical care guidelines for rhGH therapy in adults with PWS were suggested.

• Journal of mucopolysaccharidosis and rare diseases
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• 제4권2호
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• pp.42-44
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• 2018

Prader-Willi syndrome (PWS) is a multisystemic complex disorder characterized by hyperphagia and impaired satiety which lead to severe and early obesity. In infancy, hypotonia and poor suck are main problems, and a child goes through Failure-to-thrive. During childhood, clinical manifestations change to food seeking as well as excessive weight gain, short stature, developmental delay, cognitive disability and behavioral problems. Also, growth hormone insufficiency is frequent. Most patients receive the recombinant growth hormone (rGH) therapy that provides improvement in growth, body composition, and physical attributes. The clinical care guideline for rGH therapy in PWS had been noticed in 2013. The rGH therapy helps in body fat, lean body mass, height SDS and head circumference. Also, the rGH therapy helps motor function, psychomotor development and cognition and behavioral issues.In Samsung medical center, there are clinical care guidelines for rGH therapy in PWS and an useful application for the patients. 'Living with PWS', the name of an moblie application for PWS patients, was introduced in the lecture. The application revised to version 2. It was made more convenient to users than in version 1. It helps caregivers to schedule the rGH therapy and to monitor height and weight.

• Journal of mucopolysaccharidosis and rare diseases
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• 제1권1호
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• pp.19-22
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• 2015

In Growth Hormone (GH) therapy, suboptimal adherence is a common problem, reaching up to 82%, and there is a need for interventions to improve adherence and to maximize patients' growth potential eventually. Current studies have demonstrated the association between the rate of non-adherence and reduced height velocity. In order to maximize patients' potential to grow, an auto-injecting/recording device, such as $easypod^{TM}$, may help improve adherence and optimize the treatment effects of GH therapy. The use of $easypod^{TM}$ has contributed to high adherence rates: 87.5% and 93% in Bozzola et al.'s study and the $Easypod^{TM}$ Connect Observational study (ECOS), respectively. Improvement of adherence by $easypod^{TM}$ may lead to higher growth rates of patients receiving GH therapy. Additionally, patients' positive acceptability of $easypod^{TM}$ suggests $easypod^{TM}$ is a preferred device by patients for better adherence.

• Clinical and Experimental Pediatrics
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• 제49권7호
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• pp.703-709
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• 2006

Since the advent of growth hormone(GH), children with a wide variety of growth disorders have received GH treatment. In GH deficiency(GHD), Turner syndrome, chronic renal failure, children born small for gestational age, Prader-Willi syndrome, and idiopathic short stature, the therapeutic effects and safety profile of GH are reviewed. GH therapy has been clearly shown to improve height velocity and final adult height in a variety of pediatric conditions in which growth is compromised irrespective of GHD. Early initiation and individualization of GH treatment has the potential to normalize childhood growth. The supra-physiological doses of GH have been shown to increase height velocity during childhood and final height in non-GHD conditions. Adverse events during GH therapy are uncommon and often not drug related. However continued surveillance into adult life is crucial, especially in children receiving supra-physiological doses or whose underlying condition increases their risk of adverse effects.

• Clinical and Experimental Pediatrics
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• 제62권7호
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• pp.274-280
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• 2019

Purpose: To analyze the growth response to growth hormone (GH) therapy in prepubertal patients with Noonan syndrome (NS) harboring different genetic mutations. Methods: Twenty-three patients with prepubertal NS treated at Pusan National University Children's Hospital between March 2009 and July 2017 were enrolled. According to the disease-causing genes identified, the patients with NS were divided into 4 groups. Three groups were positive for mutations of the PTPN11, RAF1, and SOS1 genes. The five genes undetected (FGU) group was negative for PTPN11, RAF1, SOS1, KRAS, and BRAF gene mutations. The influence of genotype was retrospectively analyzed by comparing the growth parameters after GH therapy. Results: The mean chronological age at the start of GH treatment was $5.85{\pm}2.67years$. At the beginning of the GH treatment, the height standard deviation score (SDS), growth velocity (GV), and lower levels of insulin-like growth factor-1 (IGF)-1 levels were not statistically different among the groups. All the 23 NS patients had significantly increased height SDS and serum IGF-1 level during the 3 years of treatment. GV was highest during the first year of treatment. During the 3 years of GH therapy, the PTPN11, RAF1, and SOS1 groups showed less improvement in height SDS, IGF-1 SDS, and GV, and less increase in bone age-to-chronological age ratio than the FGU group. Conclusion: The 3-year GH therapy in the 23 prepubertal patients with NS was effective in improving height SDS, GV, and serum IGF-1 levels. The FGU group showed a better response to recombinant human GH therapy than the PTPN11, RAF1, and SOS1 groups.

• 한국전문물리치료학회지
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• 제19권4호
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• pp.8-15
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• 2012

Posterior shoulder muscle tightness is frequently observed in shoulder impingement syndrome because tightness in the posterior portion of the shoulder muscles can cause anterior and superior translation of the humeral head in relation to the glenoid fossa. The purpose of this study was to determine the immediate effects of soft tissue massage on acromiohumeral distance (AHD), anterior translation of the humeral head, and glenohumeral (GH) range of motion (ROM) in subjects with posterior shoulder muscle tightness. Twenty-seven subjects with greater than $10^{\circ}$ difference in the range of GH horizontal adduction between right and left sides were recruited. The range of GH horizontal adduction and internal rotation were measured by a digital inclinometer. The AHD and anterior translation of the humeral head were measured using ultrasonography. A paired t-test was used to compare AHD, anterior translation of the humeral head, and the range of GH horizontal adduction and internal rotation before and after soft tissue massage. The results showed that AHD increased significantly (p<.05) and the anterior translation of humeral head decreased slightly, but not significantly (p=.40) after the soft tissue massage. Furthermore, the ROM of horizontal adduction and internal rotation in the GH joint increased significantly after the soft tissue massage (p<.05). These findings indicate that soft tissue massage on posterior shoulder muscle tightness is an effective method to increase AHD and ROM in the horizontal adduction and internal rotation of the GH joint.

• The Journal of Korean Physical Therapy
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• 제28권2호
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• pp.106-111
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• 2016

Purpose: The aim of this study is to determine the effect of glenohumeral (GH) rotation position in modified knee push-up plus exercise (MKPUP) by examining the surface electromyography (EMG) amplitude in serratus anterior (SA), pectoralis major (PM), and upper trapezius (UTz) and the activity ratio of each muscle. Methods: A total of 22 healthy subjects volunteered for the study. Each subject performed the MKPUP at $0^{\circ}$, $45^{\circ}$, and $90^{\circ}$ of GH joint internal rotation. EMG of the SA and PM, UTz was compared between GH rotation positions and each muscle activity ratio. EMG was used to measure the muscle activity in terms of ratios to maximal voluntary isometric contraction (MVIC). Results: The difference in EMG activity during the exercise in three GH joint internal rotation positions was observed with the SA and the PM. The greater the GH joint internal rotation angle was, the lower the activity of the PM. In contrast, the SA showed higher activity. However, the activity of UT was similar under all conditions. The ratio of the SA and the PM was considerably greater at $90^{\circ}$ GH joint internal rotation than at $0^{\circ}$ and $45^{\circ}$. Conclusion: When excessive activation of the PM or imbalanced activation between the PM and the SA occurs, the MKPUP exercise is most effective at $90^{\circ}$ of GH joint internal rotation. Use of this position would be a beneficial strategy for selective strengthening of the SA and minimizing PM activation.

• Clinical and Experimental Pediatrics
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• 제52권8호
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• pp.922-929
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• 2009

목 적 : 성장 장애는 영아 및 소아에서 성장 속도가 같은 성별, 연령 보다 현저히 작은 경우를 지칭하며 여러 가지 원인에 의해서 발생할 수 있다. 저신장을 주소로 내원한 환자 중 성장 장애를 보이지만 성장호르몬 자극검사가 정상인 환자들의 임상적 특성 및 성장호르몬 치료에 대한 반응을 알아보고자 하였다. 방 법 : 1990년 1월부터 2008년 6월까지 서울대학교 어린이병원 소아청소년과에 내원한 어린이 중에서 성장속도가 연간 4 cm 미만이면서, 2가지 서로 다른 약제로 성장호르몬 자극검사를 시행하였을 때 정상 소견을 보이는 환자를 대상으로 하였다. SGA군과 AGA군으로 나누어 임상적인 특성을 비교하였으며, 성장호르몬 투여군에 대한 분석을 시행하였다. 결 과 : 총 39명의 환자가 연구에 포함되었으며, 남자가 25명(64%), 여자 14명(36%)이었고, SGA군 11명(28%), AGA군 28명(72%), 성장호르몬 투여군 16명(41%), 비 투여군 23명(59%)이었다. SGA군과 AGA군 모두에서 골연령이 역연령에 비하여 지연되어 있었으나(P=0.028), 두 군간의 차이는 없었다. 모든 환자에서 성장호르몬 자극검사 후 성장호르몬의 최고 농도는 10 ng/mL 이상이었고, clonidine을 사용하였을 때 성장호르몬의 최고농도가 30.4 (6.2, 92.0) ng/mL로 다른 약제에 비하여 유의하게 높았다(P=0.03). 성장호르몬 치료받은 환자 16명의 1년간 성장 속도는 7.7 (4.9, 11.1) cm/yr, 치료 받지 않고 추적관찰 된 6명은 3.7 (2.7, 4.5) cm/yr으로 유의한 차이가 있었다(P<0.001). 또한 성장호르몬 투여군에서 치료 1년 동안 신장 SDS는 0.3 (-0.1, 0.9) 증가하였고(P<0.001), 성장 속도의 변화는 4.8 (2.1, 7.7) cm/yr로 의미있게 증가하였다(P<0.001). 성장호르몬으로 치료받은 환자 중, 치료 후 1년간 성장속도는 SGA군에서 7.1 (5.1, 8.5) cm/yr, AGA군에서 8.2 (4.9, 11.1) cm/yr로 두 군 모두에서 성장호르몬 사용 전 1년 간의 성장 속도보다는 유의하게 증가하였다. 성장호르몬 치료를 시작할 때의 신장의 SDS가 -3 이상인 군과 -3 미만인 군으로 나누어 분석해 보았을 때, 성장호르몬 자극검사시의 IGF-I 농도가 SDS가 -3 미만인 군에서 유의하게 낮게 측정되었다(P=0.023). 결 론 : 성장 속도가 연간 4 cm 미만으로 감소하였으나 성장호르몬 자극검사가 정상인 환자들이 단기간의 성장호르몬 투여로 성장 속도의 증가가 있었으나 이들에서의 장기적인 성장호르몬 효과에 대하여는 향후 더 추적관찰이 필요하다. 또한 이들에서 부분적 인 성장호르몬 저항성 증후군의 가능성이 있으므로, 추후 이러한 환자들을 대상으로 IGF-I 생성 검사를 포함한, GH-IGF-I 축에 대한 검사를 시행하여 성장 장애의 원인을 밝혀야 할 것이다.

• Clinical and Experimental Pediatrics
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• 제57권9호
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• pp.379-383
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• 2014

Recombinant growth hormone (GH) is an effective treatment for short children who are born small for gestational age (SGA). Short children born SGA who fail to demonstrate catch-up growth by 2-4 years of age are candidates for GH treatment initiated to achieve catch-up growth to a normal height in early childhood, maintain a normal height gain throughout childhood, and achieve an adult height within the normal target range. GH treatment at a dose of $35-70{\mu}g/kg/day$ should be considered for those with very marked growth retardation, as these patients require rapid catch-up growth. Factors associated with response to GH treatment during the initial 2-3 years of therapy include age and height standard deviation scores at the start of therapy, midparental height, and GH dose. Adverse events due to GH treatment are no more common in the SGA population than in other conditions treated with GH. Early surveillance in growth clinics is strongly recommended for children born SGA who have not caught up. Although high dose of up to 0.067 mg/kg/day are relatively safe for short children with growth failure, clinicians need to remain aware of long-term mortality and morbidity after GH treatment.