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      Turner Syndrome: Searching for Better Outcomes

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          Abstract

          OBJECTIVES

          To assess the results of growth hormone on the growth of girls with Turner Syndrome and identify relevant parameters to improve outcomes.

          METHODS

          Growth velocity and final height were studied in a historical cohort of 41 girls, regularly followed up for hormone distribution at three referral centers. The influence of oxandrolone and of estrogens on the final height was analyzed. The girls (initial chronological age=8.9±3.4years; initial bone age=7.0±3.1years) used 0.19 mg/kg/week of growth hormone for 4.0 ± 2.0 years.

          RESULTS

          In the first year, growth velocity increased by 71.5% in 41 girls and 103.4% in those who reached final height (11 girls). The whole group had a gain in the height SDS of 0.8 ± 0.7 (p<0.01) and for those who reached a final height of 1.0 ± 0.8 (p<0.01). Final height (143.6 ±6.3 cm) was 3.9 ± 5.3 cm higher than the predicted height, and the height gain occurred before estrogen therapy. Oxandrolone had no significant influence on height gain. The significant variables contributing to the final height were the duration of growth hormone used and its use prior to starting estrogens, the initial height SDS, and the growth velocity during the first year of treatment.

          CONCLUSIONS

          We concluded that the use of growth hormone significantly increased the final height, which remained lower than the target. Results point to a need for starting growth hormone use as early as possible and to maximize treatment before estrogen replacement. It has been observed that even moderate doses of growth hormone may significantly increase early growth velocity.

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          Most cited references29

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          Standards for children's height at ages 2-9 years allowing for heights of parents.

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            The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome.

            Turner syndrome is characterized by short stature and is frequently associated with a variable spectrum of somatic features including ovarian failure, heart and renal abnormalities, micrognathia, cubitus valgus, high-arched palate, short metacarpals and Madelung deformity. Madelung deformity is also a key feature of Leri-Weill syndrome. Defects of the pseudoautosomal homeobox gene SHOX were previously shown to lead to short stature and Leri-Weill syndrome, and haploinsufficiency of SHOX was implicated to cause the short stature phenotype in Turner syndrome. Despite exhaustive searches, no direct murine orthologue of SHOX is evident. SHOX is, however, closely related to the SHOX2 homeobox gene on 3q, which has a murine counterpart, Og12x. We analysed SHOX and SHOX2 expression during human embryonic development, and referenced the expression patterns against those of Og12x. The SHOX expression pattern in the limb and first and second pharyngeal arches not only explains SHOX -related short stature phenotypes, but also for the first time provides evidence for the involvement of this gene in the development of additional Turner stigmata. This is strongly supported by the presence of Turner-characteristic dysmorphic skeletal features in patients with SHOX nonsense mutations.
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              Recommendations for the diagnosis and management of Turner syndrome.

              Comprehensive recommendations on the diagnosis of Turner syndrome (TS) and the care of affected individuals were published in 1994. In the light of recent advances in diagnosis and treatment of TS, an international multidisciplinary workshop was convened in March 2000, in Naples, Italy, in conjunction with the Fifth International Symposium on Turner Syndrome to update these recommendations. The present paper details the outcome from this workshop. The genetics and diagnosis of the syndrome are described, and practical treatment guidelines are presented.
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                Author and article information

                Journal
                Clinics
                Clinics (Sao Paulo, Brazil)
                Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
                1807-5932
                1980-5322
                April 2008
                : 63
                : 2
                : 173-178
                Affiliations
                [a ] Department of Endocrinology, Hospital Felício Rocho - Belo Horizonte/ MG, Brazil
                [b ] Division of Pediatric Endocrinology, Pediatric Department, University Hospital, Medical School, Federal University of Minas Gerais - Belo Horizonte/MG, Brazil. ivanins@ 123456medicina.ufmg.br
                Article
                cln63_2p0173
                2664211
                18438570
                4bf9a810-b194-4c1f-a575-e382865dc01b
                Copyright © 2008 Hospital das Clínicas da FMUSP
                History
                : 19 August 2007
                : 12 November 2007
                Categories
                Clinical Sciences

                Medicine
                growth,adult height,turner syndrome,growth velocity,growth hormone
                Medicine
                growth, adult height, turner syndrome, growth velocity, growth hormone

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