scholarly journals Etiology of short stature in children attending pediatric endocrinology clinic of a tertiary care hospital in Bangladesh

2020 ◽  
Vol 7 (2) ◽  
pp. 363
Author(s):  
Muhammad Rezaul Karim ◽  
Kohinoor Jahan Shamaly ◽  
Baraka Badrudduja Tithi ◽  
Romana Akter ◽  
Ismat Jahan ◽  
...  

Background: Short stature is a common problem to practicing pediatricians. It results from various etiologies, which are categorized as normal variants and pathological causes. Normal variant short stature consists of Familial Short Stature (FSS) and Constitutional Growth Delay (CGD), while pathological causes are subdivided into endocrine diseases, clinically defined syndromes, chronic diseases, metabolic diseases and others. There are not so much data available in Bangladesh in this respect. So, present study was conducted to know the common causes of short stature.Methods: This cross-sectional study was done in pediatric endocrinology clinic of Bangabandhu Sheikh Mujib Medical University, Dhaka, Bangladesh from January 2017 to August 2018. One hundred children with short stature meeting inclusion criteria were recruited after taking an informed consent. The detailed history, physical examination including anthropometric measurements and relevant investigations were done. Data were recorded on a predesigned questionnaire for final analysis.Results: The common causes of short stature identified were familial short stature (FSS) 51% cases, Constitutional Growth Delay (CGD) 14% cases and hypothyroidism 12% cases. Other less common causes of short stature were Growth Hormone Deficiency (GHD) 8% cases, malnutrition 6% cases and genetic syndrome 5% cases.Conclusions: FSS and CGD were the leading cause of short stature in children. Endocrinological causes were the most common cause of short stature after normal variant while nonendocrine causes were the least.

2020 ◽  
Vol 8 (1) ◽  
pp. 32-36
Author(s):  
Imthyas Khan V.H ◽  
Harshini B P ◽  
Ashoka C ◽  
Kumar G V

Background: Short stature is a term applied to a child whose height is two standard deviations or more below the mean height for children of that gender and chronologic age.Familial short stature and Constitutional Growth delay are considered as normal variants, the pathological short stature includes a wide variety of underlying disorders.Chronic systemic disorders, malnutrition, chromosomal or endocrinal disorders lead to a proportionate short stature.While most of the disproportionate short stature are secondary to skeletal dysplasias or resistant rickets.Etiological evaluation plays an important role in identification of physiological as well as pathological causes of short stature.Subjects and Methods:All children of age between 2 and 18 years with height below 2 standard deviation of mean for age and gender were included in the study. Result:A total of 100 children were studied who fulfilled the criteria of short stature, out of which 61 children were male and 39 were female children.Present study showed that females had more pathological variants (72%) than males (46%) whereas males had more physiological variants (54%) than females (28%) with P-value: 0.011Hypothyroidism was more common in females than males with 28% and 8% respectively. Genetic syndrome was more common in females than males with 10% and 3% respectively. Conclusion:Etiological evaluation is of pivotal role in identification of physiological as well as pathological causes of short stature and also helps in modifying the course of stature by means of early intervention.


2017 ◽  
Vol 8 (5) ◽  
pp. 75-80 ◽  
Author(s):  
Almontaser Hussein ◽  
Hekma Farghaly ◽  
Eman Askar ◽  
Kotb Metwalley ◽  
Khaled Saad ◽  
...  

Background: Accurate anthropometric measurements and critical analysis of growth data allow the clinician to promptly recognize children with short stature. The aim of this study was to determine the frequency of etiological factors causing short stature among children referred to the pediatric endocrinology clinic of Assiut University Children’s Hospital, the main tertiary care center in Upper Egypt. Methods: We conducted this descriptive observational study from May 2012 to December 2015, to analyze 637 children (boys 354, girls 283) with short stature. Evaluation included: detailed medical history, physical examination, laboratory tests, bone age and chromosomal analysis. Results: Endocrinological causes accounted for 26% of short stature [of them, 11.8% had growth hormone deficiency (GHD)], 63.6% had normal variants of growth [of them, 42% had familial short stature (FSS), 15.8% had constitutional growth delay (CGD) and 5.5% a combination of both]. Interestingly, celiac disease (CD) constituted 6.6% of children with short stature in our cohort. Conclusions: Although potentially treatable causes such as GHD, hypothyroidism and CD accounted for a considerable percentage of short stature in our study, the majority of short stature in children had normal variations of growth. Growth hormone treatment in children, however, should be promptly initiated with specific clinical indications. CD is a not uncommon cause of short stature.


Author(s):  
Tansit Saengkaew ◽  
Edward McNeil ◽  
Somchit Jaruratanasirikul

AbstractBackground:Short stature is one of the common disorders referred for investigation of an endocrine disorder. The etiologies of short stature vary and are commonly grouped into pathological and non-pathological disorders. The objective of the study was to determine the etiologies and describe the characteristics of short stature patients who attended the Pediatric Endocrinology Clinic and to compare factors between normal variant short stature (NVSS) and growth hormone deficiency (GHD).Methods:This was a retrospective review of 572 patients referred for evaluation of short stature between January 2004 and December 2015. Short stature was defined as height below −2 standard deviation score (SDS) by gender and age based on population data of Thai children.Results:In total, 521 patients were identified as having short stature. NVSS was the most common etiology (44.9%) and pathological short stature was found in 35.3% of the cases, of which 21.2% had GHD. The median age at presentation of NVSS patients was 8.6 years while that of pathological short stature patients was 2.1 years (p<0.001). Patients with NVSS had significantly higher median height SDS (HSDS) than patients with pathological diseases. The common etiologies in severe short patients, defined by HSDS ≤−3, were syndromic short stature (16.2%) and GHD (14.1%). In the moderate short stature group (HSDS between −2 and −3), constitutional delay of growth and puberty (CDGP) was the most common etiology (34.1%).Conclusions:NVSS was the most common etiology of short stature, followed by syndromic short stature and GHD. Physical examination is crucial to identify GHD from syndromic short patients.


2021 ◽  
Vol 28 (7) ◽  
pp. 993-996
Author(s):  
Waqas Imran Khan ◽  
◽  
Asia Noreen ◽  
Summera Tabasum ◽  
◽  
...  

Objectives: The objective of my study was to determine the frequency of familial short height in children aged 3 to 14 years with short height. Study Design: Descriptive study. Setting: Department of Pediatric Endocrinology at The Children Hospital & Institute of Child health Multan (CH& ICH). Period: 1st November 2018 to 31st October 2019. Material & Methods: Eighty four patients were enrolled after taking informed consent from parents/guardians. Heights of all patients, parental heights, mid parental heights were plotted on CDC growth charts. Patients having familial short stature were noted down. Results: Out of 84 patients, 59 (70.2%) were males and 25 (29.85%) were females. Age range was 3-14 years. Mean age of the population was 8.68 ± 3.42 years and mean height and weight were 114.29 ± 24.62cm and 28.95±10.01 kg, respectively. Mean height for mother and father of the patients were 154.39 ±4.56cm and 171.10 ± 3.52cm, respectively. Out of 84 children, 21 (25%) patients had FSS. In our study population FSS was more seen in children < 8 years of age, female gender and families with income of > 20K/months with p value of 0.879, 0.129 and 0.592 respectively. Conclusion: Majority of children presenting with short stature have FSS and CDG and do not have an endocrine disorder. In our study, frequency of familial short stature in children aged 3 to 14 years was 25%. The results should be validated in multicenter studies.


2013 ◽  
Vol 29 (5) ◽  
Author(s):  
Suneel Kumar ◽  
Kirpal Das Makheja ◽  
Bharat Kumar Maheshwari ◽  
Shafique Arain ◽  
Sangeeta Kumari ◽  
...  

Author(s):  
Li Lin ◽  
Mengting Li ◽  
Jingsi Luo ◽  
Pin Li ◽  
Shasha Zhou ◽  
...  

Abstract Context Aggrecan, encoded by ACAN gene, is the main proteoglycan component in the extracellular cartilage matrix. Heterozygous mutations in ACAN have been reported to cause idiopathic short stature. However, the prevalence of ACAN pathogenic variants in Chinese short stature patients and clinical phenotypes remain to be evaluated. Objective We sought to determine the prevalence of ACAN pathogenic variants among Chinese short stature children and characterize the phenotypic spectrum and their responses to growth hormone (GH) therapies. Patients and Methods Over 1000 unrelated short stature patients ascertained across China were genetically evaluated by Next-generation sequencing (NGS)-based test. Result We identified 10 novel likely pathogenic variants and 2 recurrent pathogenic variants in this cohort. None of ACAN mutation carriers exhibited significant dysmorphic features or skeletal abnormities. The prevalence of ACAN defect is estimated to be 1.2% in the whole cohort, it increased to 14.3% among those with advanced bone age and to 35.7% among those with both advanced bone age and family history of short stature. Nonetheless, five out of eleven ACAN mutation carries had no advanced bone age. Two individuals received growth hormone therapy with variable levels of height SDS improvement. Conclusion Our data suggested that ACAN mutation is one of the common causes of Chinese pediatric short stature. Although it has a higher detection rate among short stature patients with advanced bone age and family history, part of affected probands presented with delayed bone age in Chinese short stature population. The growth hormone treatment was moderately effective for both individuals.


2020 ◽  
Vol 7 (12) ◽  
pp. 2331
Author(s):  
Nagajyothi Penugonda ◽  
Ramkumar Selvarajan ◽  
Balasubramaniam Ramakrishnan

Background: Short stature is the common finding in pediatric endocrine practice with diverse etiology. However, compared to western world, data addressing the etiological and clinical profile of short stature in India are limited. The present study aimed to evaluate etiological and clinical profile of short stature in children. The primary objective was to identify children with short stature and evaluate various causes of short stature and secondary objective was to identify the gender and height differences among the different causes of short stature.Methods: This prospective observational study analysed the data of 100 children aged 2-16 years, who presented to the department of paediatrics, Apollo Hospital, Chennai for the evaluation of short stature and poor growth during the period of April 2016 to April 2017.Results: The predominant causes of short stature were growth hormone deficiency (GHD; 28%), normal variant short stature (26%), followed by chronic disease (8%), syndromic short stature (8%), Turner syndrome (7%), and hypothyroidism (6%). The most common causes of short stature in males were GHD (28%), constitutional delay of growth and puberty (CDGP; 24%) and familial short stature (FSS; 16%), whereas in females GHD (28%), Turner syndrome (14%) and FSS (12%). Beside this, 96% children had <3rd height centile and 4% children had >3rd height centile, of which 3 cases of GHD and 1 case of syndromic short stature were identified.Conclusions: The most common causes of short stature identified in our study were GHD and normal variant short stature.


2020 ◽  
pp. 2416-2428
Author(s):  
Gary Butler

Normal growth has three phases: rapid in infancy and adolescence, steady during mid childhood. Height should always be interpreted within the context of the family: short or tall stature is often familial; idiopathic short stature occurs when the height of a normal child is below their target range. Constitutional growth delay is a common normal variant, but poor growth and/or weight gain may be associated with recognized and unrecognized chronic disease, and also with psychosocial deprivation. Investigation must exclude conditions including hypothyroidism, coeliac disease, inflammatory bowel disease, and chronic kidney disease. Turner syndrome (karyotype 45,X) should be suspected in all girls presenting with growth failure, and skeletal dysplasia when a child is either short for their family or has one parent of significant short stature.


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