• Clinical and Experimental Pediatrics
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• 제60권10호
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• pp.327-332
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• 2017

Purpose: Short stature affects approximately 2%-3% of children, representing one of the most frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions in the short stature homeobox-containing gene (SHOX ) are frequently detected in subjects with short stature. Idiopathic short stature (ISS) refers to patients with short stature for various unknown reasons. The goal of this study was to screen all the exons of SHOX to identify related mutations. Methods: We screened all the exons of SHOX for mutations analysis in 105 ISS children patients (57 girls and 48 boys) living in Taif governorate, KSA using a direct DNA sequencing method. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. Results: A total of 30 of 105 ISS patients (28%) contained six polymorphic variants in exons 1, 2, 4, and 6. One mutation was found in the DNA domain binding region of exon 4. Three of these polymorphic variants were novel, while the others were reported previously. There were no significant differences in anthropometric measures in ISS patients with and without identifiable polymorphic variants in SHOX. Conclusion: In Saudi Arabia ISS patients, rather than SHOX, it is possible that new genes are involved in longitudinal growth. Additional molecular analysis is required to diagnose and understand the etiology of this disease.

• 한국융합학회논문지
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• 제12권6호
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• pp.39-47
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• 2021

이 연구는 치아발육단계에서 성장호르몬 결핍의 영향을 알아보기 위해서 성장호르몬 결핍이나 특발성 저신장 소아와 정상 소아 간의 차이를 분석하는 것을 목적으로 한다. 영남대학교 의과대학 부속병원 소아청소년과에서 저신장으로 진단받은 소아들을 성장호르몬 결핍인 대상자와 특발성 저신장 소아로 분류하였다. 구강 파노라마와 신체지수를 계측하여 치아발육과의 관계를 분석하였다. 성장호르몬 결핍성 저신장 소아와 특발성 저신장 소아 간의 유의한 차이는 측절치에서만 나타났다. 성장호르몬 결핍성 저신장 소아와 정상 소아 간에는 모든 치아에서 성장호르몬 결핍성 저신장 소아의 발육이 유의하게 늦은 것으로 나타났다. 결론적으로 저신장 소아에서 성장호르몬 결핍성 저신장 소아나 특발성 저신장 소아 모두 신장뿐만 아니라 치아 발육 역시 영향을 받은 것으로 나타났다. 이 연구는 향후 저신장 소아의 교정치료 프로토콜의 기초자료를 제시할 수 있을 것으로 기대한다.

• 한국융합학회논문지
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• 제12권10호
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• pp.89-96
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• 2021

이 연구는 저신장의 원인에 따른 치열궁 발육의 차이점을 분석하여 교정치료의 방향을 설정하는 것을 목적으로 한다. 저신장 진단을 받은 소아들에 대해 치과 진단 검사를 시행하였다. 성장호르몬 부족이 원인인 저신장 소아의 연령과 성별을 기준으로 하여 짝진 표본추출(paired sampling)을 하여 특발성 원인 저신장 소아를 분류하였다. 대조군은 1급 부정교합이고 arch length discrepancy가 3mm 미만인 대상자들을 선정하여 동일한 방법으로 분류하였다. 결론적으로 성장호르몬이 부족하거나 특발성 원인을 가진 저신장 소아에서 정상 소아에 비해 총생의 발현율이 더 높았고 수직피개 값은 작았다. 그러므로 저신장 소아의 교정치료는 총생을 치료하기 위해 조기에 Arch length discrepancy에 대한 평가를 포함한 치료계획을 세워야 할 것이다. 본 연구는 저신장 소아의 치열교합의 특성에 따른 성공적인 교정치료를 위한 중요한 자료를 제공할 수 있을 것으로 기대한다.

• Journal of Genetic Medicine
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• 제17권2호
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• pp.108-111
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• 2020

Short stature homeobox-containing gene (SHOX) is a well-known causative gene for the short stature in Turner syndrome. The clinical manifestation of SHOX gene related disorders varies from SHOX haploinsufficiency, presenting with idiopathic short stature, disproportionate short stature, or Leri-Weill dyschondrosteosis (LWD) to recessive form of extreme dwarfism and limb deformity in Langer mesomelic dysplasia. LWD is usually diagnosed upon suspicion based on short stature and skeletal abnormalities, and it is rarely accompanied with respiratory failure in the neonatal period. Here, we report the case of a newborn infant with LWD presenting with severe micrognathia that caused respiratory distress, which was diagnosed using microarray testing. Even when the manifestation of Madelung deformity is not yet apparent, LWD should be considered as one of underlying diseases related to congenital micrognathia.

• Journal of Yeungnam Medical Science
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• 제38권1호
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• pp.47-52
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• 2021

Background: Short stature is defined as a height below the 3rd percentile or more than two standard deviations below the mean for a given age, sex, and population. There have been inconsistent results regarding craniofacial morphology in short-statured children. This study aimed to analyze the differences between short-statured children with growth hormone deficiency, idiopathic short-statured children, and normal children. Methods: Thirty-one short-statured children with growth hormone deficiency, 32 idiopathic short-statured children, and 32 healthy children were enrolled in this study. The measurements of their craniofacial structures from lateral cephalograms were evaluated. Results: There were statistically significant differences among the three groups seven variables (anterior cranial base length, posterior cranial base length, total cranial base length, upper posterior facial height, posterior total facial height, mandibular ramus length, and overall mandibular length) in the linear measurement and five variables (saddle angle, gonial angle, mandibular plane angle, position of mandible, and maxilla versus mandible) in the angular measurement. Conclusion: Compared to the control group, many linear and angular measurements of the craniofacial structures were significantly different in the two short-statured groups (p <0.05). Treatment plans by orthodontists should include these craniofacial structure characteristics.

• Clinical and Experimental Pediatrics
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• 제46권4호
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• pp.363-369
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• 2003

목 적 : 본 연구는 저신장 소아 중 성장호르몬 약물자극검사에서는 정상반응을 나타낸 특발성 저신장 소아들을 대상으로 야간의 수면 양상과 성장호르몬 분비가 정상 신장의 아동과 차이가 있는지 알아보고자 하였다. 방 법 : 성장호르몬 약물자극검사에서 정상반응을 보인 신장이 3 백분위수 이하인 특발성 저신장 아동 12명과 정상 신장 아동 9명을 대상으로 30분 간격으로 야간수면 동안의 자발적 성장호르몬 분비를 측정하고 동시에 polysomnography로 수면양상을 비교 분석하였다. 결 과 : 1) 야간 수면 중 분비된 성장호르몬의 평균농도는 저신장 아동군이 정상 아동군에 비해 유의하게 낮았으며($2.8{\pm}0.2 ng/mL$ vs $4.7{\pm}0.6 ng/mL$), 특히 수면개시 후 서파 수면과 동반되는 성장호르몬 최대 분비치가 저신장 아동군이 낮았다. 2) 수면 중 성장호르몬 농도가 5 ng/mL 이상인 성장호르몬 분비 최대치의 횟수는 각각 $4.1{\pm}0.5$회, $5.8{\pm}0.6$회로 저신장군이 유의하게 적었다. 3) 전체 수면 시간에 대한 서파 수면 시간의 백분율도 저신장 아동군이 정상 아동군에 비해 감소되어 있었다($16.4{\pm}1.3%$ vs $20.8{\pm}1.2%$). 결 론 : 야간 수면 동안의 자발적인 성장호르몬 분비 검사가 약물자극검사에서 정상반응을 보이는 특발성 저신장 아동의 추가적인 진단에 도움을 줄 수 있으며 이들 저신장 아동에서 보이는 야간 성장호르몬 분비 감소는 수면구조의 차이와 일부 관련이 있는 것으로 생각된다.

• Journal of Yeungnam Medical Science
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• 제22권1호
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• pp.1-12
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• 2005

Normal growth and development is of prime concern during childhood. The treatment of children with growth hormone deficiency has been revolutionized by growth hormone therapy. An improved height outcome with a final height within the target height range has been achieved. However, close follow-up with regular clinical and laboratory monitoring is essential for achieving the desirable height outcome. The theoretical unlimited supply of growth hormone has led to its wide spread use in a variety of disorders other than a growth hormone deficiency. Initially used in children with Turner syndrome, growth hormone is now used to treat chronic renal failure, an idiopathic short stature and intrauterine growth restrictions in addition to a wide array of newly emerging indications. This review summarizes the basics for a proper growth assessment, the differentiation of normal and abnormal growth causes of a short stature, and the indications for growth hormone treatment.

• Journal of Genetic Medicine
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• 제15권2호
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• pp.102-106
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• 2018

Aggrecan is a proteoglycan in the extracellular matrix of growth plate and cartilaginous tissues. Aggrecanopathy has been reported as a genetic cause not only for severe skeletal dysplasia but also for autosomal dominant short stature with normal to advanced bone age. We report a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature identified through targeted exome sequencing. We present a girl of 4 years and 9 months with a family history of short stature over three generations. The paternal grandmother is 143 cm tall (-3.8 as a Korean standard deviation score [SDS]), the father 155 cm (-3.4 SDS), and the index case 96.2 cm (-2.9 SDS). Evaluation for short stature showed normal growth hormone (GH) peaks in the GH provocation test and a mild delayed bone age for chronological age. This subject had clinical characteristics including a triangular face, flat nasal bridge, prognathia, blue sclerae, and brittle teeth. The targeted exome sequencing was applied to detect autosomal dominant growth palate disorder. The novel variant c.910G>A (p.Asp304Asn) in ACAN was identified and this variant was found in the subject's father using Sanger sequencing. This is the first case of Korean familial short stature due to ACAN mutation. ACAN should be considered for proportionate idiopathic short stature, especially in cases of familial short stature.

• 대한예방한의학회지
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• 제26권1호
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• pp.1-10
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• 2022

Objectives : The aim of this study was to introduce the development process of Korean medicine health promotion program for short stature children that is suitable for applied at public health center. Methods : The draft of health promotion program was developed through literature search of previous similar programs and advice of several experts. A small conference targeted public health Korean medicine doctors was also held to introduce the developed program and discuss for improvements. Results : The details of 12-week of Korean medicine health promotion program for children growth are as follows: 4-week of taking herbal medicines (Yukmijihwang-tang or Yukgunja-tang), contactless counseling with Korean medicine doctor, self-care home kit consisting of Sogeonjung-tang tea leaf, Sogeonjung-tang with Cervi Parvum Cornu extract, ear acupressure stick, finger chuna manual, growth diary, and jump rope. Conclusions : This health promotion program can help to increase the height of children and self-esteem of children with short stature as well as decrease the stress of parents.

• 대한한방소아과학회지
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• 제35권2호
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• pp.1-10
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• 2021

Objectives We aimed to examine health-related economic analysis of available interventions on idiopathic short stature (ISS). Methods Eight studies were reviewed from English, Korean, and Chinese databases which were published up to December 24, 2020. Effectiveness, utility, and cost data were extracted from the studies and descriptive analysis of the individual studies was conducted Results Five studies were chosen. In the two economic evaluation studies, the incremental cost-effectiveness ratio (ICER) of growth hormone (GH) treatment was presented by performing cost-effectiveness analysis based on the deterministic decision tree approach for the GH and untreated group. Final adult height and direct medical costs were analyzed as effectiveness and cost outcomes. In 1 review article, an ICER of GH was presented based on systematic review on the effects of the GH treatment. In the two clinical trials, the effectiveness and cost of the 12 months Oriental medicine combination treatment were presented in comparison with the GH treatment alone. There were no literatures that provided utility data of available intervention on ISS. Conclusions The results of this study will be used as basic data for the economic analysis of Oriental medicine treatment on ISS in the future.