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      Arm Span and Its Relation to Height in a 2- to 17-Year-Old Reference Population and Heterozygous Carriers of ACAN Variants

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          Abstract

          Background/Objectives: In the clinical assessment of a short or tall child, estimating body disproportion is useful to assess the likelihood of a primary growth disorder, e.g., skeletal dysplasia. Our objectives were (1) to use data from the Maastricht study on healthy children (2–17 years) to calculate relative arm span (AS) for height (H) to serve as age references for clinical purposes; (2) to assess its age and sex dependency; and (3) to investigate relative AS adjustment for age and sex in individuals with ACAN haploinsufficiency. Methods: The Maastricht study data (2,595 Caucasian children, 52% boys, 48% girls) were re-analysed to produce reference tables and graphs for age and sex of AS – H and AS/H. Published information on AS/H in Europeans was used as reference data for adults. Relative AS from 33 patients with ACAN haploinsufficiency were plotted against reference data and expressed as standard deviation score (SDS) for age and sex. Results: Mean AS – H from 2 to 17 years increased from –1.2 to +1.5 cm in boys and from –4.8 to +1.6 cm in girls. Mean AS/H increased from 0.9848 to 1.0155 in boys and from 0.9468 to 1.0028 in girls. Mean AS/H in patients with ACAN haploinsufficiency was approximately 1.0, 1.5 and 0.5 SDS in young children, adolescents and 20- to 50-year-olds, respectively, and normal thereafter. Conclusions: These reference charts can be used for 2- to 17-year-old children/adolescents. Carriers of ACAN haploinsufficiency have an elevated mean AS/H in childhood and adolescence and a slightly elevated ratio till 50 years.

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          Most cited references 13

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          Physical growth of Swiss children from birth to 20 years of age. First Zurich longitudinal study of growth and development.

          Physical growth from birth to adulthood in healthy Swiss children born 1954-1956 is described. The data are based on the First Zurich Longitudinal Study in which 137 individuals of each sex have been followed from birth to adulthood between 1954 and 1976. Distance standards of 20 anthropometric measurements such as weight, height and head circumference are presented as mean values and standard deviations or as median values (for weight and skinfold thickness) with smoothed empirical centiles. Velocity standards are provided for seven anthropometric parameters. The following standard growth charts for clinical use are presented: weight, length/height and head circumference in the perinatal period, in the age range of 0-48 months and in the age range of 1-18 years (including some data on puberty), as well as weight for length/height and height velocity (cross-sectional and peak height centered). Comparison of the growth standards with those of previous Swiss studies and of recent foreign studies revealed only minor differences. Various aspects relevant for the clinical use of growth standards, such as measurement error or secular trend, are discussed.
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            PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations

            Context: PAPSS2 (PAPS synthase 2) provides the universal sulfate donor PAPS (3′-phospho-adenosine-5′-phosphosulfate) to all human sulfotransferases, including SULT2A1, responsible for sulfation of the crucial androgen precursor dehydroepiandrosterone (DHEA). Impaired DHEA sulfation is thought to increase the conversion of DHEA toward active androgens, a proposition supported by the previous report of a girl with inactivating PAPSS2 mutations who presented with low serum DHEA sulfate and androgen excess, clinically manifesting with premature pubarche and early-onset polycystic ovary syndrome. Patients and Methods: We investigated a family harboring two novel PAPSS2 mutations, including two compound heterozygous brothers presenting with disproportionate short stature, low serum DHEA sulfate, but normal serum androgens. Patients and parents underwent a DHEA challenge test comprising frequent blood sampling and urine collection before and after 100 mg DHEA orally, with subsequent analysis of DHEA sulfation and androgen metabolism by mass spectrometry. The functional impact of the mutations was investigated in silico and in vitro. Results: We identified a novel PAPSS2 frameshift mutation, c.1371del, p.W462Cfs*3, resulting in complete disruption, and a novel missense mutation, c.809G>A, p.G270D, causing partial disruption of DHEA sulfation. Both patients and their mother, who was heterozygous for p.W462Cfs*3, showed increased 5α-reductase activity at baseline and significantly increased production of active androgens after DHEA intake. The mother had a history of oligomenorrhea and chronic anovulation that required clomiphene for ovulation induction. Conclusions: We provide direct in vivo evidence for the significant functional impact of mutant PAPSS2 on DHEA sulfation and androgen activation. Heterozygosity for PAPSS2 mutations can be associated with a phenotype resembling polycystic ovary syndrome.
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              Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

              Heterozygous mutations in the aggrecan gene (ACAN) cause autosomal dominant short stature with accelerated skeletal maturation.
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                Author and article information

                Journal
                HRP
                Horm Res Paediatr
                10.1159/issn.1663-2818
                Hormone Research in Paediatrics
                S. Karger AG
                1663-2818
                1663-2826
                2020
                September 2020
                23 June 2020
                : 93
                : 3
                : 164-172
                Affiliations
                aDepartment of Paediatrics, Maastricht University Medical Centre, Maastricht, The Netherlands
                bDivision of Paediatric Endocrinology and Centre for Molecular Medicine, Karolinska Institutet and University Hospital, Stockholm, Sweden
                cDepartment of Paediatrics, School of Medical Sciences, Örebro University and University Hospital, Örebro, Sweden
                dDivision of Endocrinology, Children’s National Hospital, Washington, District of Columbia, USA
                eDepartment of Pediatrics, George Washington University School of Medicine and Health Sciences, Washington, District of Columbia, USA
                fDepartment of Paediatrics, Leiden University Medical Centre, Leiden, The Netherlands
                Author notes
                *W.J.M. Gerver, Department of Pediatrics, Maastricht University Medical Centre, PO Box 5800, NL–6202 AZ Maastricht (The Netherlands), w.gerver@maastrichtuniversity.nl
                Article
                508500 Horm Res Paediatr 2020;93:164–172
                10.1159/000508500
                32575104
                © 2020 The Author(s) Published by S. Karger AG, Basel

                This article is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND). Usage and distribution for commercial purposes as well as any distribution of modified material requires written permission. Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug. Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

                Page count
                Figures: 4, Tables: 1, Pages: 9
                Categories
                Research Article

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