Short stature and delayed puberty in gymnasts: Influence of selection bias on leg length and the duration of training on trunk length

2000 ◽  
Vol 136 (2) ◽  
pp. 149-155 ◽  
Author(s):  
Shona Bass ◽  
Michelle Bradney ◽  
Georgina Pearce ◽  
Elke Hendrich ◽  
Karen Inge ◽  
...  
Keyword(s):  
Short Stature ◽  
Selection Bias ◽  
Delayed Puberty ◽  
Leg Length ◽  
Trunk Length

scholarly journals Walking and postural balance in adults with severe short stature due to isolated GH deficiency

2019 ◽  
Vol 8 (4) ◽  
pp. 416-424 ◽  
Author(s):  
Ananda A Santana-Ribeiro ◽  
Giulliani A Moreira-Brasileiro ◽  
Manuel H Aguiar-Oliveira ◽  
Roberto Salvatori ◽  
Vitor O Carvalho ◽  
...  
Keyword(s):  
Short Stature ◽  
Postural Balance ◽  
Fall Risk ◽  
Gh Deficiency ◽  
Muscle Tone ◽  
Receptor Gene ◽  
Leg Length ◽  
Timed Up And Go ◽  
Cross Sectional ◽  
Severe Short Stature

Objectives Walking and postural balance are extremely important to obtain food and to work. Both are critical for quality of life and ability to survive. While walking reflects musculoskeletal and cardiopulmonary systems, postural balance depends on body size, muscle tone, visual, vestibular and nervous systems. Since GH and IGF-I act on all these systems, we decided to study those parameters in a cohort of individuals with severe short stature due to untreated isolated GH deficiency (IGHD) caused by a mutation in the GHRH receptor gene. These IGHD subjects, despite reduction in muscle mass, are very active and have normal longevity. Methods In a cross-sectional study, we assessed walking (by a 6-min walk test), postural balance (by force platform) and fall risk (by the 'Timed Up and Go' test) in 31 IGHD and 40 matched health controls. Results The percentage of the walked distance measured in relation to the predicted one was similar in groups, but higher in IGHD, when corrected by the leg length. Absolute postural balance data showed similar velocity of unipodal support in the two groups, and better values, with open and closed eyes and unipodal support, in IGHD, but these differences became non-significant when corrected for height and lower-limb length. The time in 'Timed Up and Go' test was higher in IGHD cohort, but still below the cut-off value for fall risk. Conclusion IGHD subjects exhibit satisfactory walking and postural balance, without increase in fall risk.

scholarly journals Auxology Is a Valuable Instrument for the Clinical Diagnosis of SHOX Haploinsufficiency in School-Age Children with Unexplained Short Stature

2003 ◽  
Vol 88 (10) ◽  
pp. 4891-4896 ◽  
Author(s):  
Gerhard Binder ◽  
Michael B. Ranke ◽  
David D. Martin
Keyword(s):  
Short Stature ◽  
De Novo ◽  
Fragment Size ◽  
Mutation Screening ◽  
Idiopathic Short Stature ◽  
Paternal Allele ◽  
Leg Length ◽  
Sitting Height ◽  
Arm Span ◽  
Hand Radiography

Abstract SHOX (short stature homeobox-containing gene) mutations causing haploinsufficiency have been reported in some individuals with idiopathic short stature and in many patients with Leri-Weill-dyschondrosteosis. Around 80% of SHOX mutations are complete gene deletions, whereas diverse point mutations account for the rest. The aim of this study was to estimate the prevalence of SHOX mutations in children with idiopathic short stature and to give an unbiased characterization of the haploinsufficiency phenotype of such children. We recruited 140 children (61 girls), in our clinic, with idiopathic short stature, which was defined by the presence of normal IGF-I and free T4; a normal karyotype in females; the absence of endomysium antibodies, of chronic organic, psychological, or syndromatic disease; and by the lack of clear signs of any osteodysplasia. Height, arm span, and sitting height were recorded, and subischial leg length was calculated. Two highly polymorphic microsatellite markers located around the SHOX coding region (CA-SHOX repeat and DXYS233) were PCR-amplified with fluorescent primers and separated in an automatic sequencing machine. Analysis of parental DNA was performed in the probands who had only one fragment size of each of both markers. SHOX haploinsufficiency caused by a SHOX deletion was confirmed in three probands (2%), all females, who carried a de novo deletion through loss of the paternal allele. Their auxological data revealed a significant shortening of arms and legs in the presence of a low-normal sitting height, when compared with the other 137 children tested. Therefore, the extremities-trunk ratio (sum of leg length and arm span, divided by sitting height) for total height was significantly lower in the three SHOX haploinsufficient probands, in comparison with the whole group. This observation was confirmed with the auxological data of five additional patients (four females) previously diagnosed with SHOX haploinsufficiency; all but the youngest girl had height-adjusted extremities-trunk ratios more than 1 sd below the mean. All children with SHOX haploinsufficiency exhibited at least one characteristic radiological sign of Leri-Weill-dyschondrosteosis in their left-hand radiography, namely triangularization of the distal radial epiphysis, pyramidalization of the distal carpal row, or lucency of the distal ulnar border of the radius. Our observations suggest that it is rational to limit SHOX mutation screening to children with an extremities-trunk ratio less than 1.95 + 1/2 height (m) and to add a critical judgment of the hand radiography.

The Langer-Giedion Syndrome: Report of a 22-Year-Old Woman

PEDIATRICS ◽  
1979 ◽  
Vol 64 (4) ◽  
pp. 542-545
Author(s):  
William G. Wilson ◽  
Robert T. Herrington ◽  
Arthur S. Aylsworth
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Clinical Course ◽  
Malignant Change ◽  
Delayed Puberty ◽  
Protruding Ears ◽  
Sparse Hair ◽  
Multiple Cartilaginous Exostoses ◽  
Syndrome Report

A 22-year-old woman with the Langer-Giedion syndrome and delayed puberty is presented. Pertinent features include a bulbous nose, sparse hair, protruding ears, multiple cartilaginous exostoses, cone-shaped phalangeal epiphyses, short stature, microcephaly, and mental retardation. She is the oldest patient thus far described with this condition, and is compared to the ten previously published cases. The clinical course of patients with the Langer-Giedion syndrome and the possibility of malignant change in the exostoses have not been established.

Management of Boys with Short Stature and Delayed Puberty

2005 ◽  
Vol 18 (8) ◽  
Author(s):  
A.-C. Couto-Silva ◽  
C. Trivin ◽  
L. Adan ◽  
E. Lawson-Body ◽  
J.-C. Souberbielle ◽  
...  
Keyword(s):  
Short Stature ◽  
Delayed Puberty

Adult height in children with short stature and idiopathic delayed puberty after different management

2007 ◽  
Vol 167 (6) ◽  
pp. 677-681 ◽  
Author(s):  
Stefano Zucchini ◽  
Malgorzata Wasniewska ◽  
Mariangela Cisternino ◽  
Mariacarolina Salerno ◽  
Lorenzo Iughetti ◽  
...  
Keyword(s):  
Short Stature ◽  
Adult Height ◽  
Delayed Puberty

scholarly journals Somatic development in children with Shwachman-Diamond Syndrome

2020 ◽  
Author(s):  
Agnieszka Bogusz-Wójcik ◽  
Honorata Kołodziejczyk ◽  
Maja Klaudel-Dreszler ◽  
Grzegorz Oracz ◽  
Joanna Pawłowska ◽  
...  
Keyword(s):  
Short Stature ◽  
Bone Marrow Failure ◽  
Systemic Disease ◽  
Pancreatic Insufficiency ◽  
Anthropometric Measurements ◽  
Leg Length ◽  
Somatic Development ◽  
Lower Weight ◽  
Shwachman Diamond Syndrome ◽  
Lower Height

Abstract Background: Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characterized by exocrine pancreatic insufficiency, immune deficiency, bone marrow failure and skeletal abnormalities. Most patients present with failure in somatic development and short stature, but systematic data concerning those features are limited. The aim of the study was to assess the prevalence of failure in somatic development in the children with SDS.Methods: An analysis of anthropometric measurements of 21 patients (14 girls and 7 boys),aged 2 to 17 years (mean age 6.3 years) with SDS diagnosed in The Children’s Memorial Health Institute in Warsaw, Poland was performed. The patients were measured using a Holtain Limited stadiometer, an electronic scale, a Harpenden anthropometer, a metric tape and a spreading caliper. The assessed anthropometric parameters were expressed as standard deviation scores in relation to the reference values in Poland, suitable for sex as well as calendar and growth age.Results: A total of 66 measurements was collected and analyzed with a median number of 3 observations per patient. The group of boys presented with a significantly lower height (-3.0 SD, p<0.0001) and BMI (-1.4 SD, p<0.00001), and in the relation to the growth age a lower weight ( -1.0 SD, p<0.001) as well as a smaller chest width (-0.9 SD, p<0.05), hip width (-0,5 SD, p<0,05) and lower limb length (-0,5 SD, p<0,05). The group of girls also showed significantly lower height (-2.6 SD, p<0.00001) and BMI (-0.8 SD, p<0.00001), and in relation to the growth age, lower weight (-0.5 SD, p<0.001) as well as decreased width of the chest (-1.7 SD, p<0.0001) and shoulder (‑1.0 SD, p<0.001) were observed. Boys and girls were also characterized by significantly decreased circumference and width of head, additionally, girls had also smaller head length.Conclusions: Patients with SDS have abnormal somatic development. Both boys and girls are characterized by short stature, decreased weight, BMI, leg length, chest width as well as circumference and width of head. Anthropometric measurements provide important data on the process of growth and body proportions in children with SDS.

scholarly journals The Relationship between Trunk Leg Ratio and Peak Expiratory Flow Rate in 200 Level MBBS/BDS Students of Bayero University Kano

2019 ◽  
pp. 1-6
Author(s):  
Jibril I. Adama ◽  
Salisu A. Ibrahim ◽  
Y. Abdulmumin ◽  
Mukhtar F. Zahra
Keyword(s):  
Peak Expiratory Flow ◽  
Flow Rate ◽  
Peak Expiratory Flow Rate ◽  
Respiratory Diseases ◽  
Common Knowledge ◽  
The Body ◽  
Leg Length ◽  
Anthropometric Parameter ◽  
Trunk Length ◽  
Expiratory Flow

Background: Being an important physiological and clinical tool in assessing respiratory conditions, it is common knowledge that Peak expiratory flow rate (PEFR) may be affected by some factors affecting the normal function of the respiratory system. Such factors include the body constitution such as height, built, sex, age etc.; The trunk-leg ratio (TLR) was used in apparently normal young adults. A better understanding of the association between Trunk-leg ratio and PEFR may identify those with elevated risk of respiratory diseases. Methods: The study was an analytical cross-sectional design, involving 83 Level 200 MBBS/BDS students of Bayero University, Kano. There were a total of 39 males and 44 females.  A peak flow meter and a measuring tape to scale were used to measure the PEFR, trunk length and leg length respectively. A questionnaire was used to determine any history of cardio-respiratory disease A consent of the participants and ethical approval was obtained before the commencement of the study. Results: The males had higher PEFR value (491.79±67.19L/min) while the females had a lower PEFR of 366.82±43.28L/min and the difference was statistically significant. The males had higher values of trunk length, leg length and TLR and there was no significant different between that male and female trunk length ratio. There was A significant correlation between PEFR and leg length indicating that the longer the leg length, the higher the PEFR. Conclusion and Recommendation: Significant correlation was found between the TLR, which is an anthropometric parameter and the PEFR which is an important diagnostic tool in determination of some types of respiratory diseases. This relationship signifies that the taller the person, irrespective of the trunk length, the higher the PEFR. It is recommended that further studies should be explored involving other anthropometric parameters like trunk-leg volume in future studies.

Sign in / Sign up

Export Citation Format

Share Document