Tall Stature

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S L S Drop - One of the best experts on this subject based on the ideXlab platform.

  • update on the predictability of Tall Stature from dna markers in europeans
    Forensic Science International-genetics, 2019
    Co-Authors: Fan Liu, Kaiyin Zhong, Xiaoxi Jing, Andre G Uitterlinden, Emile A J Hendriks, S L S Drop, Manfred Kayser
    Abstract:

    Predicting adult height from DNA has important implications in forensic DNA phenotyping. In 2014, we introduced a prediction model consisting of 180 height-associated SNPs based on data from 10,361 Northwestern Europeans enriched with Tall individuals (770 > 1.88 standard deviation), which yielded a mid-ranged accuracy (AUC = 0.75 for binary prediction of Tall Stature and R2 = 0.12 for quantitative prediction of adult height). Here, we provide an update on DNA-based height predictability considering an enlarged list of subsequently-published height-associated SNPs using data from the same set of 10,361 Europeans. A prediction model based on the full set of 689 SNPs showed an improved accuracy relative to previous models for both Tall Stature (AUC = 0.79) and quantitative height (R2 = 0.21). A feature selection analysis revealed a subset of 412 most informative SNPs while the corresponding prediction model retained most of the accuracy (AUC = 0.76 and R2 = 0.19) achieved with the full model. Over all, our study empirically exemplifies that the accuracy for predicting human appearance phenotypes with very complex underlying genetic architectures, such as adult height, can be improved by increasing the number of phenotype-associated DNA variants. Our work also demonstrates that a careful sub-selection allows for a considerable reduction of the number of DNA predictors that achieve similar prediction accuracy as provided by the full set. This is forensically relevant due to restrictions in the number of SNPs simultaneously analyzable with forensically suitable DNA technologies in the current days of targeted massively parallel sequencing in forensic genetics.

  • sex steroid treatment of constitutionally Tall Stature
    Endocrine Reviews, 1998
    Co-Authors: S L S Drop, Wouter J De Waal, Sabine M P F De Muinck Keizerschrama
    Abstract:

    I. Introduction II. Normal vs. Extremes of Growth A. Defining CTS B. Endocrinology of CTS III. Endocrinology of Bone Growth and Maturation IV. Sex Steroid Action on Bone Growth and Maturation V. Height Prediction A. Skeletal maturity or BA B. Computed assisted skeletal age-scoring systems C. Accuracy of height prediction D. New prediction equations in constitutionally Tall children VI. Treatment of CTS: General Concepts VII. Treatment of Constitutionally Tall Boys A. T treatment modalities B. Height reduction C. Effects on gonadal function D. Other clinical effects VIII. Estrogen Treatment in Tall Girls A. Estrogen treatment modalities B. Height reduction C. Effects on gonadal function D. Other adverse effects IX. Alternative Treatment Modalities and Future Research X. Conclusions and Recommendations

  • computer aided skeletal age scores in healthy children girls with turner syndrome and in children with constitutionally Tall Stature
    Pediatric Research, 1996
    Co-Authors: A Van Teunenbroek, W J De Waal, A Roks, P Chinafo, M H Fokker, Paul G H Mulder, S M P F De Muinck Keizerschrama, S L S Drop
    Abstract:

    The manual Tanner-Whitehouse 2 method has recently been transformed into a computer-aided skeletal age scoring system (CASAS), which rates either the complete TW-RUS score (13b model) or a subset consisting of radius, ulna, and the four bones of the third finger (6b model). In this study the reliability of CASAS was evaluated in healthy children, and the 13b model was compared with the manual ratings and with the 6b model in (subgroups of) 151 healthy children, 87 girls with Turner syndrome, and 362 children with constitutionally Tall Stature. In addition, reference curves for bone maturation in Turner syndrome and constitutionally Tall Stature are presented. Some of mean differences in methods were statistically significant; however, because these mean differences were less than 0.4 bone age “year,” they are clinically not significant. In all comparisons the range of the difference between the methods (either with the 6b or the 13b model) was considerable, but the combined within- and between-components of variance(0.7%) were in the same order of magnitude as reported for the manual readings. In general, the percentage of equal stage ratings on duplicate assessments was high (±90%). Our data indicate that this computerized method is applicable in these groups of children. The use of the 6b model seems preferable because it is less time-consuming than the rating of 13 bones. In view of the percentages of manual insertions of a stage (up to 8% in all groups) the clinical use of this CASAS version (3.5) seems to be more efficient, particularly with longitudinal studies. Manual substitution of a stage should be avoided, and when performed its percentage and the limits for the acceptance of disagreement should be reported.

  • long term sequelae of sex steroid treatment in the management of constitutionally Tall Stature
    Archives of Disease in Childhood, 1995
    Co-Authors: W J De Waal, S M P F De Muinck Keizerschrama, M Torn, R S R Aarsen, S L S Drop
    Abstract:

    AIM--To evaluate possible long term side effects of high doses of sex steroids in the management of constitutionally Tall Stature, with special attention to hypothalamic-gonadal function. METHODS--Sixty four Tall adult men and 180 Tall adult women, who received supraphysiological doses of sex hormones during puberty, were interviewed in a standardised way at a mean follow up period of 10 years after cessation of treatment. Sixty one untreated Tall adult men and 94 untreated Tall adult women served as controls. RESULTS--The majority of the subjects were satisfied with their decision regarding hormone treatment. Seventy seven per cent of the women and 78% of the men reported one or more side effects during treatment. Most side effects were mild. In women, only 3% stopped treatment because of an adverse event; in men, the reported side effects never stopped treatment. The frequency of reported side effects in women was higher during treatment with high doses of oestrogens than during oral contraceptive use, indicating a dose dependent relationship. Amenorrhoea of longer than six months after cessation of therapy was found in 5%. Menstrual cycle characteristics of previously treated women were comparable with controls. Malignancy was not reported. Information about a total of 127 pregnancies was obtained and revealed no distinct differences in details and outcome between previously treated women and men, and controls. CONCLUSIONS--At a mean follow up of 10 years there is no evidence that pharmacological doses of sex hormones have a long term effect on reproductive function. However, this period is still too short to draw definite conclusions.

Jan M Wit - One of the best experts on this subject based on the ideXlab platform.

  • evidence that non syndromic familial Tall Stature has an oligogenic origin including ciliary genes
    Frontiers in Endocrinology, 2021
    Co-Authors: Birgit Weiss, Jeffrey Baron, Birgit Eberle, Ralph Roeth, Christiaan De Bruin, Julian C Lui, Nagarajan Paramasivam, Katrin Hinderhofer, Hermine A Van Duyvenvoorde, Jan M Wit
    Abstract:

    Human growth is a complex trait. A considerable number of gene defects have been shown to cause short Stature, but there are only few examples of genetic causes of non-syndromic Tall Stature. Besides rare variants with large effects and common risk alleles with small effect size, oligogenic effects may contribute to this phenotype. Exome sequencing was carried out in a Tall male (height 3.5 SDS) and his parents. Filtered damaging variants with high CADD scores were validated by Sanger sequencing in the trio and three other affected and one unaffected family members. Network analysis was carried out to assess links between the candidate genes, and the transcriptome of murine growth plate was analyzed by microarray as well as RNA Seq. Heterozygous gene variants in CEP104, CROCC, NEK1, TOM1L2, and TSTD2 predicted as damaging were found to be shared between the four Tall family members. Three of the five genes (CEP104, CROCC, and NEK1) belong to the ciliary gene family. All genes are expressed in mouse growth plate. Pathway and network analyses indicated close functional connections. Together, these data expand the spectrum of genes with a role in linear growth and Tall Stature phenotypes.

  • the diagnostic evaluation of Tall Stature in children
    Nederlands Tijdschrift voor Geneeskunde, 2020
    Co-Authors: Peter Lauffer, Jan M Wit, Wilma Oostdijk, Christiaan F Mooij, Noud A J Drewes, Gerdine A Kamp
    Abstract:

    In this case series, we describe four children and adolescents with Tall Stature or growth acceleration to illustrate the diagnostic evaluation of Tall Stature according to the new Paediatric Association of the Netherlands (NVK) Guideline on growth disorders. A 14-year-old girl with Tall Stature and a relatively late onset of puberty was diagnosed with idiopathic familial Tall Stature, and the patient decided not to opt for epiphysiodesis. A 14-year-old boy with prepubertal growth acceleration and a history of behavioural problems was diagnosed with Klinefelter syndrome. A 7-year-old boy with Tall Stature, arachnodactyly, pectus excavatum and lumbar scoliosis was diagnosed with Marfan syndrome. Finally, a 16-year-old girl with isolated progressive Tall Stature was diagnosed with growth hormone excess caused by a pituitary somatotroph adenoma. The most clinically relevant conditions associated with Tall Stature are Klinefelter and Marfan syndrome, and secondary growth disorders such as precocious puberty and growth hormone excess.

  • towards a rational and efficient diagnostic approach in children referred for Tall Stature and or accelerated growth to the general paediatrician
    Hormone Research in Paediatrics, 2019
    Co-Authors: Peter Lauffer, Jan M Wit, Gerdine A Kamp, Leonie A Menke, Wilma Oostdijk
    Abstract:

    Tall Stature and/or accelerated growth (TS/AG) in a child can be the result of a primary or secondary growth disorder, but more frequently no cause can be found (idiopathic TS). The conditions with the most important therapeutic implications are Klinefelter syndrome, Marfan syndrome and secondary growth disorders such as precocious puberty, hyperthyroidism and growth hormone excess. We propose a diagnostic flow chart offering a systematic approach to evaluate children referred for TS/AG to the general paediatrician. Based on the incidence, prevalence and clinical features of medical conditions associated with TS/AG, we identified relevant clues for primary and secondary growth disorders that may be obtained from the medical history, physical evaluation, growth analysis and additional laboratory and genetic testing. In addition to obtaining a diagnosis, a further goal is to predict adult height based on growth pattern, pubertal development and skeletal maturation. We speculate that an improved diagnostic approach in addition to expanding use of genetic testing may increase the diagnostic yield and lower the age at diagnosis of children with a pathologic cause of TS/AG.

  • short and Tall Stature a new paradigm emerges
    Nature Reviews Endocrinology, 2015
    Co-Authors: Jeffrey Baron, Jan M Wit, Lars Sävendahl, Francesco De Luca, Andrew Dauber, Moshe Phillip, Ola Nilsson
    Abstract:

    In the past, the growth hormone (GH)-insulin-like growth factor 1 (IGF-1) axis was often considered to be the main system that regulated childhood growth and, therefore, determined short Stature and Tall Stature. However, findings have now revealed that the GH-IGF-1 axis is just one of many regulatory systems that control chondrogenesis in the growth plate, which is the biological process that drives height gain. Consequently, normal growth in children depends not only on GH and IGF-1 but also on multiple hormones, paracrine factors, extracellular matrix molecules and intracellular proteins that regulate the activity of growth plate chondrocytes. Mutations in the genes that encode many of these local proteins cause short Stature or Tall Stature. Similarly, genome-wide association studies have revealed that the normal variation in height seems to be largely due to genes outside the GH-IGF-1 axis that affect growth at the growth plate through a wide variety of mechanisms. These findings point to a new conceptual framework for understanding short and Tall Stature that is centred not on two particular hormones but rather on the growth plate, which is the structure responsible for height gain.

  • diagnostic work up and follow up in children with Tall Stature a simplified algorithm for clinical practice
    Journal of Clinical Research in Pediatric Endocrinology, 2015
    Co-Authors: Susanne E Stalman, Jan M Wit, Gerdine A Kamp, Anke Pons, Frans B Plotz
    Abstract:

    Objective No evidence-based guideline has been published about optimal referral criteria and diagnostic work-up for Tall Stature in children. The aim of our study was to describe auxological and clinical characteristics of a cohort of children referred for Tall Stature, to identify potential candidates for adult height reduction, and to use these observations for developing a simple algorithm for diagnostic work-up and follow-up in clinical practice. Methods Data regarding family and medical history, auxological measurements, bone age development, physical examination, additional diagnostic work-up, and final diagnosis were collected from all children referred for Tall Stature, irrespective of their actual height standard deviation score (HSDS). Predicted adult height (PAH) was calculated in children above 10 years. Characteristics of patients with an indication for adult height reduction were determined. Results Hundred thirty-two children (43 boys) with a mean ± SD age of 10.9±3.2 (range 0.5-16.9) years were included in the study. Fifty percent of the referred children had an HSDS ≤2.0 (n=66). Two pathological cases (1.5%) were found (HSDS 2.3 and 0.9). Tall children without pathology were diagnosed as idiopathic Tall, further classified as familial Tall Stature (80%), constitutional advancement of growth (5%), or unexplained non-familial Tall Stature (15%). Of the 74 children in whom PAH was calculated, epiphysiodesis was considered in six (8%) and performed in four (5%) patients. Conclusion The incidence of pathology was very low in children referred for Tall Stature, and few children were potential candidates for adult height reduction. We propose a simple diagnostic algorithm for clinical practice.

Peter C Hindmarsh - One of the best experts on this subject based on the ideXlab platform.

  • long term follow up after bilateral percutaneous epiphysiodesis around the knee to reduce excessive predicted final height
    Archives of Disease in Childhood, 2018
    Co-Authors: Peter C Hindmarsh
    Abstract:

    Height is a useful measure of the health of the population and of the individual. Most acute and chronic childhood conditions impact on growth, and growth can be used as a marker of the success of therapeutic interventions. As a general principle, the further the individual goes away from the average for age, the more likely that there is an explanation for their Stature. In terms of Tall Stature, the majority of individuals have constitutional Tall Stature, although disorders such as precocious puberty, hyperthyroidism and syndromes (Klinefelter or Marfan) need to be considered. Pituitary gigantism, due to excessive secretion of growth hormone, is rare. Box provides a more extensive listing of causes.Box ### Causes of an increased adult height #### Constitutional Tall Stature Endocrine #### Obesity and overnutrition in the first 2 years of life Syndromes Metabolic Positive secular trends in Stature due to improved general health and economic conditions of a nation have been documented over the past 200 years1 either in the short term (heights of Japanese boys between 1950 and 1960 peaked at an increment of 8 cm per decade at age 14 years) or long term (mean height of Dutch male army recruits increased from 165 cm in 1865 to 182 cm in 1980). As a …

  • the evaluation and management of Tall Stature
    Current Paediatrics, 2004
    Co-Authors: Saji Daniel Alexander, Peter C Hindmarsh
    Abstract:

    Abstract Referrals for Tall Stature are decreasing in clinical practice. Defining Tall Stature is difficult and the majority of Tall children are normal. The physician should however be aware of the various endocrine and syndromic causes of Tall Stature and investigate further if indicated. Constitutional Tall Stature is the most frequent diagnosis in Tall children. Abnormalities of the pituitary gland may be seen in normal puberty in these children. The importance of accurate auxology is paramount. Height prediction using bone age and decisions on treatment of Tall Stature are difficult areas, and a paediatric endocrinologist should be involved in the management. Acceleration of skeletal maturity using sex steroids is the current preferred modality of height reduction treatment.

  • oestrogen treatment of Tall Stature
    Archives of Disease in Childhood, 1998
    Co-Authors: C G D Brook, R Stanhope, M A Preece, Aynsley A Green, Peter C Hindmarsh
    Abstract:

    Editor,—We deplore the publication of a paper that lends credibility to a therapeutic regimen that is not only obsolete but also dangerous.1 High dose oestrogen treatment has an unacceptable incidence of side effects, which the authors record, and an unknown risk of thromboembolic problems2 and carcinoma of the breast, ovary, and uterus. The prevention of excessive adult Stature is attained much more benignly by the induction of puberty using low doses of sex steroid at an age and height judged to achieve a satisfactory end point. Final height is determined by the height attained at onset of puberty,3 a constant amount of height (30 cm) being added to that height. This is why …

B J Otten - One of the best experts on this subject based on the ideXlab platform.

  • CLINICAL STUDY Treatment of Tall Stature in boys with somatostatin analogue 201-995: effect on final height
    2014
    Co-Authors: C Noordam, S T Van Daalen, B J Otten
    Abstract:

    Background: An optimal treatment for Tall Stature in boys in terms of efficacy and safety is not avail-able. Treatment with somatostatin analogue 201–995 (SMS) has been tried with positive short-term results. Methods: We evaluated the effect of SMS treatment on reducing adult height. Over 2 years, 16 boys presenting to our university hospital with Tall Stature (constitutional Tall Stature (n 13), Marfan syndrome (n 2) and tethered spinal cord (n 1)) with a predicted final height above 197 cm were included in the study and prospectively followed until final height was reached. As one boy was lost to follow-up we have reported on 15 boys. Treatment with SMS as a single subcutaneous dose was started and continued until final height was reached. In eight boys androgens were given to induce puberty after the start of SMS and five boys were on treatment with androgens prior to SMS treatment. Effect on reduction of final height prediction, calculated with the index of potential height based on the bone age of Greulich and Pyle, was the main outcome measure. Standard anthro-pometric assessments were performed a year before and every 3 months during treatment. Bone age was assessed by the method of Greulich and Pyle at the start and after 6 and 12 months. Results: Mean reduction in final height prediction (predicted adult height minus achieved adult height) was 20.1 cm (range 26.4 to þ5.7). In three boys, asymptomatic microlithiasis of the gall bladder was diagnosed. Conclusions: We have concluded that, in spite of encouraging short-term results, long-term treatment with SMS does not reduce final height in a manner sufficient to justify SMS treatment in Tall Stature. European Journal of Endocrinology 154 253–25

  • treatment of Tall Stature in boys with somatostatin analogue 201 995 effect on final height
    European Journal of Endocrinology, 2006
    Co-Authors: C Noordam, S T Van Daalen, B J Otten
    Abstract:

    BACKGROUND: An optimal treatment for Tall Stature in boys in terms of efficacy and safety is not available. Treatment with somatostatin analogue 201-995 (SMS) has been tried with positive short-term results. METHODS: We evaluated the effect of SMS treatment on reducing adult height. Over 2 years, 16 boys presenting to our university hospital with Tall Stature (constitutional Tall Stature (n = 13), Marfan syndrome (n = 2) and tethered spinal cord (n = 1)) with a predicted final height above 197 cm were included in the study and prospectively followed until final height was reached. As one boy was lost to follow-up we have reported on 15 boys. Treatment with SMS as a single subcutaneous dose was started and continued until final height was reached. In eight boys androgens were given to induce puberty after the start of SMS and five boys were on treatment with androgens prior to SMS treatment. Effect on reduction of final height prediction, calculated with the index of potential height based on the bone age of Greulich and Pyle, was the main outcome measure. Standard anthropometric assessments were performed a year before and every 3 months during treatment. Bone age was assessed by the method of Greulich and Pyle at the start and after 6 and 12 months. RESULTS: Mean reduction in final height prediction (predicted adult height minus achieved adult height) was -0.1 cm (range -6.4 to +5.7). In three boys, asymptomatic microlithiasis of the gall bladder was diagnosed. CONCLUSIONS: We have concluded that, in spite of encouraging short-term results, long-term treatment with SMS does not reduce final height in a manner sufficient to justify SMS treatment in Tall Stature.

Adrian J L Clark - One of the best experts on this subject based on the ideXlab platform.

  • Tall Stature in familial glucocorticoid deficiency
    Clinical Endocrinology, 2000
    Co-Authors: Lucila Leico Kagohara Elias, Angela Huebner, Louise A Metherell, Atilio Canas, G L Warne, Maria Luisa Manca Bitti, Stefano Cianfarani, Peter E Clayton, M O Savage, Adrian J L Clark
    Abstract:

    OBJECTIVE Familial glucocorticoid deficiency (FGD) has frequently been associated with Tall Stature in affected individuals. The clinical, biochemical and genetic features of five such patients were studied with the aim of clarifying the underlying mechanisms of excessive growth in these patients. PATIENTS AND METHODS Five patients with a clinical diagnosis of FGD are described in whom the disorder resulted from a variety of novel or previously described missense or nonsense mutations of the ACTH receptor (MC2-R). All patients demonstrated excessive linear growth over that predicted from parental indices and increased head circumference. RESULTS Growth hormone and IGF-I-values were normal. Growth charts suggest that the excessive growth is reduced to normal following the introduction of glucocorticoid replacement. A characteristic facial appearance including hypertelorism, marked epicanthic folds and prominent frontal bossing was noted. CONCLUSIONS These findings indicate that ACTH resistance resulting from a defective ACTH receptor may be associated with abnormalities of cartilage and/or bone growth independently of the GH–IGF-I axis, but probably dependent on ACTH actions through other melanocortin receptors.