Common Cause Of Short Stature Research Articles

Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children.

Short stature (SS) is defined as height more than 2 standard deviations below the mean for age and sex. Hypothyroidism, celiac disease, growth hormone deficiency, hormonal abnormalities, and genetic conditions are among its causes. A wide range of conditions often due to largely unknown genetic variants can elude conventional diagnostic workup. We used next-generation sequencing (NGS) to better understand the etiology of SS in a cohort of Italian children. The study sample was 125 children with SS of unknown origin referred to our Institute between 2015 and 2021. All had undergone complete auxological and hormonal investigations to exclude common causes of SS. Genetic analysis was performed using a NGS panel of 104 genes. Clinical data were reviewed to clarify the pathogenicity of the variants detected. In this cohort, 43 potentially causing variants were identified in 38 children. A syndromic genetic condition was diagnosed in 7: Noonan syndrome in 3, Leri-Weill syndrome in 3, and hypochondroplasia in 1. Moreover, 8 benign variants and other 37 like benign variants were found. In 88 children, 179 variants of uncertain significance (VUS) were identified. No variant was found in 16 children. Genetic analysis is a useful tool in the diagnostic workup of patients with SS, in adapting management and treatment, and in identifying syndromes with mild atypical clinical features. The role of VUS should not be underestimated, particularly when multiple VUS with possible mutual worsening effects are present in the same child.

Exploring the Genetic Causes for Postnatal Growth Failure in Children Born Non-Small for Gestational Age.

The most common causes of short stature (SS) in children are familial short stature (FSS) and idiopathic short stature (ISS). Recently, growth plate dysfunction has been recognized as the genetic cause of FSS or ISS. The aim of this study was to investigate monogenic growth failure in patients with ISS and FSS. Targeted exome sequencing was performed in patients categorized as ISS or FSS and the subsequent response to growth hormone (GH) therapy was analyzed. We found 17 genetic causes involving 12 genes (NPR2, IHH, BBS1, COL1A1, COL2A1, TRPS1, MASP1, SPRED1, PTPTN11, ADNP, NADSYN1, and CERT1) and 2 copy number variants. A genetic cause was found in 45.5% and 35.7% of patients with FSS and ISS, respectively. The genetic yield in patients with syndromic and non-syndromic SS was 90% and 23.1%, respectively. In the 11 genetically confirmed patients, a gain in height from -2.6 to -1.3 standard deviations after 2 years of GH treatment was found. The overall diagnostic yield in this study was 41.7%. We identified several genetic causes involving paracrine signaling, the extracellular matrix, and basic intracellular processes. Identification of the causative gene may provide prognostic evidence for the use of GH therapy in non-SGA children.

Two Rare Variants of Turner Syndrome with Isochromosome Structural Abnormalities

Background: Turner’ssyndrome (TS) is the most common cause of short stature and delayed puberty of female sex. Approximately half of the patients have its classic form of 45 XO, one fourth of patients are different mosaic forms and the remaining cases are structural abnormalities on X chromosome, among them most common structural abnormality is isochromosomeXq. These variant Turner’s can present with delayed menarche, amenorrhoea and infertility rather than classic manifestations of TS.Here we describetwo uncommon variants of TS, one is structural abnormality on X chromosome as 46X, iso(Xq) and another one is mosaic variety of TS including Isochromosome X as form of 45XO/46X, iso(Xq).Both of them presented with short stature and secondary amenorrhea without classic manifestations of TS. In TS with or without mosaicism, the frequency of isochromosome is reportedto be about 15-18%. Due to lack of classical manifestations of TS, diagnosis may be delayed and/or missed. So, female of short stature with secondary amenorrhoea should be searched for rare variants of TS by chromosomal analysis. J Medicine 2023; Vol. 34, No. 2(1) Supplement: 223

The Etiological Spectrum of Short Stature among Children Attending Endocrine Clinic at Tertiary Care Hospital

Background: One of the most frequent reasons for referral to pediatric endocrinology units is short stature. Children's short height has a complicated etiology that includes genetics, race, gender, nutrition, and several endocrine hormones. Objective: To determine the etiological spectrum of short stature among children presenting to endocrinology outpatient clinics in a tertiary care hospital. Methods: This descriptive cross-sectional study was performed in the outpatient clinic of the Endocrinology Department at the National Institute of Child Health Hospital from September to December 2022. Short stature was defined as height for age <-2 standard deviations for the corresponding age and gender according to World Health Organization growth charts. 263 children were enrolled in the study. Detailed history and panel investigation for short stature were mediated for each child. Results: A total of 263 patients were enrolled in the study having a median age of 8 (IQR=6-9) years and the majority were females (53.2%). The median SD of height and current weight was -3.48 (IQR= -4.3 - -2.83) and -2.8 (IQR= -3.59 - -2.17) respectively. The most frequently seen classification of short stature was the normal variant (68.1%) followed by endocrine disorders (19.8%), dysmorphic syndrome (9.9%), and chronic disease (2.3%). The most common cause of short stature was familial short stature (47.9%) followed by growth hormone deficiency (18.3%), constitutional short stature (9.1%), Turner syndrome (9.1%), both familial and constitutional SS (8%), idiopathic short stature (3%), celiac disease (2.3%), Cushing syndrome (n=2, 0.8%), panhypopituitarism (0.8%) and Seckel syndrome (0.8%). Conclusion: This study analyzed that the majority of short stature are normal variants. However, findings of endocrine disorders, dysmorphic disorders, and chronic disease suggest timely screening and detection of short stature to avoid serious consequences of silent underlying diseases.

Combined Spinal-Epidural Anesthesia for a Primigravida with Achondroplasia

Achondroplasia is one of the most common causes of short stature. They carry high risk for obstetrics and anesthesia management. General anesthesia is still widely used as the first choice. In this case report, we applied Combined SpinalEpidural (CSE) anesthesia technique on a 29 year-old primigravida for her elective cesarean section.

The Spectrum of ACAN Gene Mutations in a Selected Chinese Cohort of Short Stature: Genotype-Phenotype Correlation.

Objective: Mutations in the ACAN gene have been reported to cause short stature. However, the prevalence estimates of pathogenic ACAN variants in individuals with short stature vary, and the correlation between ACAN genotype and clinical phenotype remain to be evaluated. To determine the prevalence of ACAN variants among Chinese people with short stature and analyze the relationship between genotype and main clinical manifestations of short stature and advanced bone age among patients with ACAN variants. Methods: We performed next-generation sequencing-based genetic analyses on 442 individuals with short stature. ACAN variants were summarized, previously reported cases were retrospectively analyzed, and an association analysis between genotype and phenotype was conducted. Result: We identified 15 novel and two recurrent ACAN gene variants in 16 different pedigrees that included index patients with short stature. Among the patients with ACAN variants, 12 of 18 had advanced bone age and 7 of 18 received growth hormone therapy, 5 (71.4%) of whom exhibited variable levels of height standard deviation score improvement. Further analysis showed that patients with ACAN truncating variants had shorter height standard deviation scores (p = 0.0001) and larger bone age–chronological age values (p = 0.0464). Moreover, patients in this Asian population had a smaller mean bone age–chronological age value than those that have been determined in European and American populations (p = 0.0033). Conclusion: Our data suggest that ACAN mutation is a common cause of short stature in China, especially among patients with a family history of short stature but also among those who were born short for their gestational age without a family history. Patients with truncating variants were shorter in height and had more obvious advanced bone age, and the proportion of patients with advanced bone age was lower in this Asian population than in Europe and America.

Abstract 31: Etiology of pathological short stature – A tertiary care centre experience

Background: Short stature is one of the commonest clinical entities encountered by an endocrinologist in day-to-day practice. Only few studies from India have specifically focussed on the etiology of pathological short stature.Aim and Objective: To look for different causes of pathological short stature and to compare this data with other parts in India and worldwide.Results: A retrospective analysis of 222 patients (≤18 years) presenting with pathological short stature over last 5 years was done. The mean age of presentation was 10.98±4.88 years with a height SDS of -3.34±1.03, male to female ratio of 0.85 (102/120). The most common cause of short stature was type-1 Diabetes mellitus (DM) (21.1%) followed by primary hypothyroidism (16.2%), metabolic bone disease (13.5%), multiple pituitary hormone deficiency (11.3%), Turner syndrome (6.3%) and isolated growth hormone deficiency (4.8%). Idiopathic short stature was seen in 8 cases (3.6%). Overall, endocrine causes accounted for 82.9% cases. Commonest age group to present was 10-15 years (38.2%).Conclusion: Endocrinological abnormalities was the most common cause of short stature in our study possibly due to referral bias. Unfortunately, most of the children presented late, thereby limiting the scope of optimal treatment.

Causes of Short Stature in Children Referred to a Tertiary Care Center in Southeast of Iran: 2018-2020

Background: Short stature is a common problem encountered by endocrinologists. Short stature may be due to normal variations of growth or pathologic process. Evaluation of short stature and its causes in any community can be effective in reducing physical and mental illness in children. Objectives: The objective of this study was to evaluate the frequency of common causes of short stature in children referring to the endocrinology clinic. Methods: This prospective and descriptive study was carried out between August 2018 and September 2020. Included criteria were age below 18 years, height more than 2 SD below the mean for age (< 3rd percentile), growth failure (< 4 cm/year), small for mid-parental height, and adequate follow-up. They were evaluated by anthropometric measurements, biochemical panel, hormonal tests, radiological studies, and hormonal provocative tests. Results: A total of 509 cases, including 238 males (46.8%) and 271 females (53.2%) had short stature. The age of participants varied from 2-18 years. The mean chronological age was 11.83±3.44 years. Most study participants were over 10 years old (68%). Normal variants of growth with 271 (53.34%) children, were the most prevalent causes. These causes were in three subgroups: familial short stature: 133 (26.14%), constitutional delay of growth and puberty: 112 (22%), and idiopathic short stature: 26 (5.12%). Totally 238 cases (46.66%) were due to pathologic types of short stature. The leading cause of short stature in this group was growth hormone deficiency, which was seen in 70 (13.76%) patients. Conclusions: The normal variants of short stature as a group were the most common cause of short stature, followed by endocrinological causes of short stature and non-endocrinological causes.

A prospective study of etiology and clinical characteristics of children with short stature and response to treatment

OBJECTIVE: To study the etiological and clinical profile of children presenting with short stature and to assess growth velocity in children after 6 months of treatment.METHODS: This prospective observational study was conducted between January 2017 to May 2018. One hundred consecutive children attending the outpatient department for short stature were thoroughly evaluated clinically and investigations were done as deemed necessary. The cases were followed up for 6 months to assess the growth velocity.RESULTS: Female to male ratio was 1.56. Nutritional short stature (NSS) and normal variant short stature were the most prevalent, with the equal frequency of 19% each, followed by endocrine and other causes. The significant number of children had Vitamin D deficiency/insufficiency (92%). mid-parental height (MPH) was below-1 standard deviation score (SDS) from the national standard in all the children studied.CONCLUSION: In the present study, normal variants of short stature and NSS were the most common causes of short stature, followed by endocrine disorders. Vitamin D status was low in the majority of the children (92%), with possible contribution to short stature in all groups irrespective of primary diagnosis and needs further exploration. Growth hormone (GH) therapy in select non GH deficiency short stature can be promising. We also noted that maternal, paternal heights, and consequently, MPH was below the national standard in 100% of children. This may implicate ethnic variations and maybe a call for local growth charts. It needs further studies to look for factors responsible for lower MPH in our cohort.

Anthropometric parameters of idiopathic familial short stature females and its correlation with height and comparison with the control group

Introduction: Familial Short stature is considered one of the most common causes of Short Stature along with the constitutional delay in growth and puberty (CDGP) from which it can easily be distinguish. The core parameters of anthropometry represent diagnostic criteria for obesity and other non-communicable diseases. To measure the anthropometric parameters in the patients with idiopathic clinically non-syndromic familial short-stature and to correlate those parameters with their height and compare them with the control group. Material and Methods: A cross-sectional study was conducted among Familial Short Stature females of 5-18 years age group referred from Paediatric and Genetic OPD of AIIMS, Rishkesh. Non-parametric tests were applied for comparing the variables and correlation coefficients were obtained. Results: There was a significant difference between the groups in terms of Standing Height (cm) (W = 376.000, P = <0.001), BMI (Kg/m2) (W = 1128.500, P = 0.002), with the median BMI (Kg/m2) and Waist/Height Ratio (W = 1164.500, P = <0.001), with the median Waist/Height Ratio being highest in the Short-Stature group. There was moderate to strong positive correlation between standing height and other anthropometric parameters. The mean waist to height ratio of 0.6 among short stature and 0.5 among the control group, with short stature having more odds of getting overweight and also shows a greater predilection of short-stature group for developing Cardio-vascular diseases. Discussion and Conclusion: Familial short stature though being a manifestation of some underlying cause, can fall in a non-syndromic group until further studies including karyotyping, next-generation sequencing etc. Extensive research for appropriate categorization and how this can effectively help combat the burden of malnutrition and non-communicable diseases should be done.

A study of clinical profile of children with short stature

Background: Short stature is one of the common concerns among the Indian children. However, community-based studies in Indian context are rare compared to studies performed in Western countries. Aim: Here, we aimed to study the clinical profile of children with short stature and the different causes of it. Methods: This study was a hospital-based prospective study that included 65 children ?18 years (female: 57%, male: 43%) who met the inclusion criteria. Detailed history, physical examination, anthropometry, laboratory tests, bone age, and chromosomal analysis were included for evaluation. Results: The most common age group affected was 11–15 years (40%) followed by 6–10 years (34%) and &lt;5 years (21.5%). Growth hormone (GH) deficiency (21.4%), followed by malnutrition (18.5%), familial short stature (13.9%), hypothyroidism (10.8%), turner syndrome (10.8%), constitutional delay of growth and puberty (9.2%), systemic diseases (6.2%), and miscellaneous (6.1%) were identified as the common causes of short stature. Conclusion: Commonly observed etiology of short stature was identified in this study. Proportionate and disproportionate short statures were 90.7% and 9.3%, respectively. About 23% of the cases were of physiological short stature and 77% were of pathological short stature.

Advantages and Disadvantages of Different Treatment Methods in Achondroplasia: A Review.

Achondroplasia (ACH) is a disease caused by a missense mutation in the FGFR3 (fibroblast growth factor receptor 3) gene, which is the most common cause of short stature in humans. The treatment of ACH is necessary and urgent because untreated achondroplasia has many complications, both orthopedic and neurological, which ultimately lead to disability. This review presents the current and potential pharmacological treatments for achondroplasia, highlighting the advantages and disadvantages of all the drugs that have been demonstrated in human and animal studies in different stages of clinical trials. The article includes the potential impacts of drugs on achondroplasia symptoms other than short stature, including their effects on spinal canal stenosis, the narrowing of the foramen magnum and the proportionality of body structure. Addressing these effects could significantly improve the quality of life of patients, possibly reducing the frequency and necessity of hospitalization and painful surgical procedures, which are currently the only therapeutic options used. The criteria for a good drug for achondroplasia are best met by recombinant human growth hormone at present and will potentially be met by vosoritide in the future, while the rest of the drugs are in the early stages of clinical trials.

Focused Revision: ACMG practice resource: Genetic evaluation of short stature

Focused Revision: ACMG practice resource: Genetic evaluation of short stature

A study of etiological and clinical profile of short stature in a tertiary care center

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 &lt;3rd height centile and 4% children had &gt;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.

Look Beyond Gluten in Short Stature with Celiac Disease - A Prospective, Interventional Study.

Short stature (SS) is a common manifestation of celiac disease (CD). After starting gluten free diet (GFD), children usually have catch-up growth (improvement in height SDS of >1 SD). However, few children in remission, even on GFD, lack catch up growth. This study was planned to assess the growth hormone (GH) axis and the prevalence of anti-pituitary antibodies in such patients. It was a single-centre, prospective study. Patients with CD in remission for the last 1 y, having SS and lacking catch-up growth, were included after excluding other common causes of SS. GH dynamics were studied using stimulation tests: Insulin tolerance test, clonidine stimulation test, and glucagon stimulation test. GH deficiency (GHD) was defined as non-stimulable response to 2 GH stimulation tests. Anti-pituitary antibodies were analysed in these patients using rat pituitary extract as antigen. Ten patients (8 girls), with a mean age of 10 ± 2.8 y, in serological remission for CD and lacking catch-up growth, were enrolled. All had a height SDS of < -2. Fifteen age matched children with CD and adequate catch up growth served as controls. GHD was seen in 7 patients (70%), out of whom 2 received GH therapy and had an improvement in the height SDS from -2.7 to -1.4 and from -2.1 to 2.4 (over 1 y), respectively. Anti-pituitary antibodies were seen in significant titres in 55.5% of the cases and 40% of the controls. Children with CD in remission but lacking catch-up growth should be evaluated for GHD.

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

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.

Characteristics and etiologies of short stature in children: Experience of an endocrine clinic in a Tunisian tertiary care hospital.

BackgroundShort stature is a common reason for referral to pediatric endocrinology clinics. It may be a manifestation of a pathological condition requiring early treatment. The aim of this study was to describe the characteristics and etiologies of short stature among children referred to the pediatric endocrinology clinic of the main pediatric tertiary care center in Tunisia.MethodsRetrospective and descriptive study in the endocrinology unit of children referred for short stature between January 2012 and December 2016. Data on the patients' medical history, physical findings, laboratory tests, bone age and chromosomal analysis were collected.Results470 children (266 males and 204 females) were referred during that period. 214 (45.5%) had normal height, and 80.8% of them were referred by general practitioners. The other 256 children (54.5%) had a confirmed short stature (mean age :7.2 years, mean height: -2.77 SDS). Endocrinological causes were the most common(43% GHD, 4% hypothyroidism) followed by intrauterine growth retardation IUGR (24%), genetic syndromes (8.4%), chronic pediatric diseases (7.8%), skeletal dysplasia (6.2%), normal variant of short stature (5%), and psychosocial deprivation (1.2%). Among non-endocrine causes, Turner syndrome was the most common genetic syndrome (4.4%), achondroplasia the main skeletal dysplasia (4%) and celiac disease the main chronic disease (3.4%).ConclusionsST is largely overestimated in our country. Therefore, it is important to insist on adequate measurement and analysis of growth parameters to avoid unnecessary investigations. GHD and IUGR were the most common causes. Celiac disease, though frequent in Tunisia, is not a common cause of short stature.

Evaluation of short stature in paediatric age group in rural medical college

Evaluation of short stature in paediatric age group in rural medical college - IJMPO- Print ISSN No: - 2581-4699 Online ISSN No:- 2581-4702 Article DOI No:- 10.18231/2581-4702.2018.0036, IP International Journal of Medical Paediatrics and Oncology-IP Int J Med Paediatr Oncol

Study of the profile of children and adolescents with short stature in Pediatric Endocrinology Unit at Tanta University Hospital

Background Growth and development are specific hallmarks of childhood. In most children, they occur spontaneously with no interruption. A complex system controls the initiation, rate, and cessation of growth. Short stature is a condition in which the height of the individual is more than 2 SD below the corresponding mean height for a given age, sex, and population. It may be either a variant of normal growth or caused by certain pathology. Normal variants of short stature may be constitutional, familial, or idiopathic causes, whereas pathological causes may be endocrinal, syndromatic, chronic illness, skeletal dysplasia, or nutritional. Careful evaluation of causes of short stature to exclude normal variants, early diagnosis, and treatment of pathologic causes is important for better prognosis. Growth hormone (GH) is used for treatment of other causes of short stature rather than GH deficiency. Aim The aim of this retrospective study was to study the profile of children with short stature to seek a better way for management and follow-up of these populations. Patients and methods This retrospective study included all children with short stature who were recorded and recruited from Endocrinology Unit at Tanta University Hospital during the period from 2009 to 2015 from age of 1 to 16 years. The profile of cases was reviewed from their medical records including complete history, clinical data (weight, height, BMI, and Z-score for height, and weight), and laboratory investigations (complete blood count, liver and renal functions, cholesterol, triglycerides, high-density lipoprotein, low-density lipoprotein, GH provocation tests, thyroid function tests, insulin growth factor-1 level, and bone age). Results The most common cause of short stature was normal variants (49.1%), mainly constitutional (22.1%) followed by endocrinal (35.3%) causes. The most common endocrinal cause of short stature was hypothyroidism (19%). Short stature is more prevalent in rural areas (67%) than urban areas (33%). The prevalence rate of short stature is more among female (51%) than male (49%) individuals. Treatment with recombinant human GH in cases of GH deficiency was done in a dose of 0.18–0.3 mg/kg/week (77.1%), and the most effective dose was found to be 0.2 mg/kg/week (62.6%), with the best effect on height, height velocity, and final height. Treatment with levothyroxine in cases of hypothyroidism leads to improvement of height velocity. Conclusion The most common cause of short stature was normal variants, and therefore, careful evaluation should be done to diagnose them. Early diagnosis of reversible causes, early treatment, adherence to treatment, and regular follow-up are the most important predictors of successful treatment and better prognosis.

The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study

The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2-15% of patients with idiopathic short stature (ISS), in 50-90% of patients with Leri-Weill dyschondrosteosis syndrome (LWS), and in almost 100% of patients with Turner syndrome. The aim of our study was to evaluate the frequency of SHOX gene haploinsufficiency in children with ISS, LWS and in patients having Turner syndrome phenotype (TF), but normal karyotype, and to identify the dysmorphic signs characteristic for SHOX gene deficiency. A total of 144 patients were included in the study. Multiplex Ligation-dependent Probe Amplification (MLPA) method was used to identify the SHOX gene haploinsufficiency. The relationships between clinical data (axiological parameters, skeletal disorders, dysmorphic signs) and genotype were analyzed by statistical methods. 11 (7.6%) of the 144 patients showed SHOX gene deficiency with female dominance (8/11, 81% female). The SHOX positive patients had a significantly higher BMI (in 5/11 vs. 20/133 cases, p<0.02) and presented more frequent dysmorphic signs (9/11vs 62/133, p = 0.02). Madelung deformity of the upper limbs was also significantly more frequent among the SHOX positive patients (4/11, i.e. 36%, vs. 14/133, i.e. 10%, p = 0.0066). There were no statistically significant differences between the mean age, mean height and auxological measurements (sitting height/height, arm span/height) between the two groups of patients. The occurrence of SHOX gene haploinsufficiency observed in our population corresponds to the literature data. In SHOX positive patients, in addition to short stature, the dysmorphic signs have a positive predictive value for SHOX gene alterations. However, the SHOX deletion detected in a patient with idiopathic short stature without dysmorphic signs suggest that SHOX deletion analysis can be recommended in patients with ISS. Orv Hetil. 2017; 158(34): 1351-1356.