• Title/Summary/Keyword: Short stature

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Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature

  • Kim, Yoo-Mi;Cheon, Chong Kun;Lim, Han Hyuk;Yoo, Han-Wook
    • 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.

Screening of SHOX gene sequence variants in Saudi Arabian children with idiopathic short stature

  • Alharthi, Abdulla A.;El-Hallous, Ehab I.;Talaat, Iman M.;Alghamdi, Hamed A.;Almalki, Matar I.;Gaber, Ahmed
    • 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.

Comparison of Body Image, Self-Esteem and Behavior Problems between Children of Short and Normal Stature (저신장증 아동과 정상 아동의 신체상, 자아존중감 및 문제행동)

  • Kim, Mi-Ye
    • Child Health Nursing Research
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    • v.16 no.1
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    • pp.41-48
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    • 2010
  • Purpose: The purpose of this study was to examine the relationship of body image, self-esteem, and behavior problems comparing children of short stature and children of normal height, and to enhance growth development through early detection of social or emotional problems in children of short stature. Methods: The data were collected from June 2 to September 25, 2008. The participants were 38 children who were diagnosed with short stature and their mothers and 38 children of age appropriate stature and their mothers selected from 311 elementary students in D city. The participants were matched by using propensity analysis for controlling confounding variables. Sapiro-Wilk test, t-test, Wilcoxon test, and Pearson correlation coefficients with SPSS/WIN 14.0 program were used to analyze the data. Results: There were significant differences in body image and behavior problems between children of short stature and children of age appropriate stature. There was no significant difference in self-esteem between the two groups. Positive correlation was found between body image and self-esteem. In children of age appropriate stature, a negative correlation was found between body image and behavior problems. Conclusion: A specialized program which focuses on behavior problems, body image, and self-esteem should be developed to help children of short stature in school-based settings.

Systematic Review of Short Stature and Growth Related Qualitative Researches (저신장 및 성장과 관련된 질적연구에 대한 체계적 문헌 고찰)

  • Kim, Hye Jin;Jeon, Chae Heun;Roh, Min Yeong;Han, Ye Ji;Kim, Hyun Ho;Cheong, Moon Joo;Leem, Jung Tae
    • The Journal of Pediatrics of Korean Medicine
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    • v.33 no.4
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    • pp.74-88
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    • 2019
  • Objectives The aim of this study is systematic evaluation of the quality of qualitative studies related to short stature. It will be utilized as fundamental data for future qualitative research about Korean Medicine Pediatrics treatment for short stature. Methods We searched qualitative studies related to short stature in the Pubmed. Two researchers independently assessed the quality of the qualitative researches by using Consolidated criteria for reporting qualitative research (COREQ) and Critical Appraisal Skills Program (CASP). We also qualitatively synthesized theme of each included studies. We presented integrated theme and categories with in vivo coding about qualitative research about short stature. Results A total of 47 papers were screened and 7 papers were finally selected. In the quality assessment using COREQ, detalied information about the researchers, methods of approach, reasons for non-participation, presence of non-participants, participant's review of the transcript, and participant's review of the findings were insufficient. In the quality evaluation using CASP, there were lack of justifications for the research methods, description method of research, and bias in process of data analysis. The findings were synthesized into three themes: fixed idea about height, discomfort caused by small stature and personal coping strategy with stress caused by short stature. Conclusions In further qualitative research, it is necessary to report the research according to COREQ and CASP checklist. It is also necessary to understand the stress and coping strategies to short stature of patients, We need to develop a social management strategy for short stature.

Leri-Weill dyschondrosteosis in a newborn presenting with respiratory failure due to severe micrognathia

  • Gang, Mi Hyeon;Lee, Jianne;Lee, Yong Wook;Shin, Ji Hye;Lim, Han Hyuk;Kim, Yoo-Mi;Chang, Mea-young
    • 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.

Hair Tissue Mineral Analysis(HTMA) of Children and Teenagers with Short Stature & Low Weight (저신장저체중 소아청소년의 모발미네랄분석)

  • Han, Yun-Jeong;Chang, Gyu-Tae;Lee, Min-Jeong
    • The Journal of Pediatrics of Korean Medicine
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    • v.21 no.2
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    • pp.51-67
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    • 2007
  • Objectives The study was designed to find out the relationships between short stature and low weight among children and teenagers. Methods This research was performed in 21 children and teenagers from August 2006 to June 2007. We measured height, weight, body mass index, obesity rare, bone age, and HTMA. Moreover, we analyzed correlation with height, weight, mineral concentrations and ratios obtained from HTMA. Results There were significant correlations between HTMA and short stature and low weight. 1. Most subjects(76%) had slow metabolic types. 2. Ca, Mg, Zn, Ca/P, and Cr had significant differences between high bone age group and high chronological age group. 3. Fe/Cu had significant differences between a group that recent height is more smaller than inherited height and a group that recent height is more taller than inherited height. 4. Ca, Mg, Ca/P had significant differences between a low weight group and a normal weight group classified by obesity rate. Conclusions Children and teenagers with short stature and low weight have specific mineral characters.

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Development of Korean Medicine Health Promotion Program for Short Stature Children (소아 성장 한의약건강증진프로그램 개발)

  • Jang, Soobin;Lee, Johyun;Park, Seokyung;Lee, Boram
    • 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.

Short Stature and Growth Hormone Therapy (저신장 소아를 위한 성장호르몬 치료)

  • Park, Yong-Hoon
    • 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.

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The Feasibility and Safety of Herbal Medication on Short Stature (성장치료를 위한 한약투여의 임상적 효과 및 안전성 평가)

  • Cheong, Jeong-Ook;Yang, Tae-Kyu;Koo, Bon-Hong;Lee, Sea-Yun
    • The Journal of Internal Korean Medicine
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    • v.22 no.4
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    • pp.513-517
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    • 2001
  • Objective : Recently many studies of herbal medication to promote growth have been implemented. The purpose of this study was to identify the feasibility and safety of herbal medication on short stature. Methods : 143 patients(87 males, 56 Females)who visited with short stature at Kangnam CHA Oriental Hospital From February 1999 to January 2000 and were treated during 6 months, were available for this study. We treated with 5 herbal medications.(Soeumin hyangbujapalmultang-gagambang, Soyangin yukmijihwangtang-gagambang, Taeumin chungsimyunjatang-gagambang, Boa-tang, Boikyangwi tang) At the begining of the treatment and after 6 months treatment, We measured height, weight and body mass index(BMI). And we investigated changes of aspartate aminotransferase(AST), alanine aminotransferase(ALT), blood urea nitrogen(BUN), alkaline phosphatase(ALP), creatinine. Results: The distribution of ages was from 5 years old to 17 years old. After herbal treatment, mean height, mean weight, mean BMI and mean percentile grade increased $138.5{\pm}15.6$ to $141.9{\pm}15.1$, from $36.9{\pm}13.2$ to $38.9{\pm}13.2$, from $18.5{\pm}3.29$ to $18.7{\pm}3.21$, from $3.2{\pm}1.2$ to $3.4{\pm}1.2$. The contents of AST, ALT, BUN, ALP and Creatinine were not showed any significant change. Conclusions : In the results We recognized Short stature was showed prominent feasibility and safety of herbal medication. Herbal Medication in patients with short stature will improve height velocity without liver and kidney function disorders.

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Correlation between Short Stature and Obese Degree - Intended for the Case of 236 Patient in the Name of Short Stature (저신장과 비만도의 상관성 분석 - 저신장을 주소로 내원한 환아 236명을 대상으로)

  • Lee, Kyung-Hee;Song, Jae-Chul;Lee, Jae-Sung;Kwak, Chang-Kyu;Park, Sun-Young;Han, Seung-Moo;Lim, Sa-Bi-Na;Shin, Hyun-Taeg
    • Journal of Korean Medicine for Obesity Research
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    • v.5 no.1
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    • pp.97-107
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    • 2005
  • Objectives The purpose of this study was to investigate correlation between short stature and obese degree. And we also wanted to know the characteristics of patients visited clinic in the name of 'short stature'. Methods Height, body weight, BMI, fat mass, lean body mass, percent body fat were taken intended for 236 patients in the name of short stature. To all the patient questionnaire for growth clinic was drawn up, and ultrasound scan was taken through calcaneous of the right foot. The patients were classified to three groups - short, average, tall group - according to relative position of mid-parental height. It was analysed that the differences between groups in obese degree. Also was investigated correlation between position of short stature and obese degree, and between obese degree and bony maturity. Results & Conclusion 1. The average ages of patients in the name of 'short stature' were $12.69{\pm}3.93$ years old in boys, $10.66{\pm}3.67$ years old in girls. And it seemed to be just before second rapid maturing period. 2. The average BMI were $20.58{\pm}4.07kg/m^2$ in boys, $18.65{\pm}2.85kg/m^2$ in girls, and average percent body fat were $21.99{\pm}7.35%$ in boys, $26.01{\pm}6.35%$ in girls. 3. The numbers of obese children were 34(31.2%) in boys, 19(14.9%) in girls on the basis of BMI. And the numbers were 39(35.8%) in boys, 53(41.7%) in girls on the basis of percent body fat. There was a big difference in case of girls. 4. The numbers of AG(average group) were 48(44.0%) in boys, 60(47.2%) in girls, the numbers of SG(short group) were 35(32.1%) in boys, 31(24.4%) in girls, and numbers of TG(tall group) were 26(23.9%) in boys, 35(27.6%) in girls. 5. There were no significant differences among the groups in BMI, lean body mass, fat mass, percent body fat. Only significant difference in DI(disease index). 6. There were no significant correlation between PH(percent height) and BMI, leanbody mass, fat mass, percent body fat. Only significant correlation in DI(disease index). 7. There were no significant differences between DA(difference between bone age and chronorogical age) and BMI, leanbody mass, percent body fat. Only significant correlation in fat mass.

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