• Clinical and Experimental Pediatrics
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• v.60 no.10
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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.

• Journal of the Korea Convergence Society
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• v.12 no.6
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• pp.39-47
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• 2021

The purpose of this study is to analyze the differences among short statured children with growth hormone deficiency, idiopathic, and normal children in order to find the effect of growth hormone deficiency on tooth developmental stage. We classified children diagnosed with short stature at the Pediatrics in Yeungnam University Hospital as subjects due to idiopathic and growth hormone deficiency. We analyzed the relationship between short stature and tooth development through the measuring of oral panorama and body index. Only the eruption of lateral incisors showed significant difference between short statured with growth hormone deficiency and idiopathic. Almost all tooth eruption was significantly delayed on short statured children with growth hormone deficiency compared to average group. In conclusion, short stature children with either growth hormone deficiency or idiopathic were affected not only in their somatic stature but also dental maturity. We look forward to this study presenting basic data for orthodontic therapy.

• Journal of the Korea Convergence Society
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• v.12 no.10
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• pp.89-96
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• 2021

This study is aimed to establish the direction of orthodontic treatment by analyzing the differences in the dental arch development due to the cause of short stature. Dental diagnostic tests were conducted on patients who were diagnosed with short stature. Idiopathic short statured children were classified through the paired sampling based on the age and gender of a short statured children with growth hormone shortage. Control groups were classified using same method as above, after selecting candidates with an arch length of less than 3mm and malocclusion. In conclusion, short statured children with growth hormone shortage or idiopathic had the higher rate of crowding and the small value of overbite compared to normal children. Therefore orthodontic treatment for short statured children needs treatment plan included evaluation for Arch length discrepancy to treat a crowding early. This study will provide important data for successful orthodontic treatment according to the characteristics of dental occlusion of short statured children.

• Journal of Genetic Medicine
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• v.17 no.2
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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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• v.38 no.1
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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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• v.46 no.4
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• pp.363-369
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• 2003

Purpose : Pharmacologic provocation test of growth hormone(GH) is a non-physiologic method and has several limitations for diagnosing growth hormone(GH) deficiency. Spontaneous GH release studies could be important in understanding the pathophysiology of children with poor growth but normal responses to GH provocation tests. Also, the relationship between nocturnal GH secretions and sleep patterns in short stature children is poorly understood. The aim of this study is to determine whether there are differences in sleep patterns and nocturnal GH secretory profiles between idiopathic short stature children and a normal stature group. Methods : Spontaneous nocturnal GH secretions and sleep patterns were evaluated in 12 prepubertal idiopathic short stature children with normal responses to provocation tests and 9 normal stature controls. Blood samples were taken every 30 minutes from 22:00-06:30 and sleep patterns were analyzed by polysomnography. Results : The mean GH level during sleep was significantly lower in short stature children than in controls. The peak GH level after sleep, coincident with the first slow wave sleep, was lower in the short stature group. The slow wave sleep times of short stature children were decreased compared with those of normal subjects. Conclusion : These results suggest that overnight serial GH sampling is helpful to identify short stature children with subnormal GH secretions, and sleep structure differences may be associated with decreased overnight GH secretions in short stature children.

• Journal of Yeungnam Medical Science
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• v.22 no.1
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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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• v.15 no.2
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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.

• Journal of Society of Preventive Korean Medicine
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• v.26 no.1
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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.

• The Journal of Pediatrics of Korean Medicine
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• v.35 no.2
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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.