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Pattern and Etiology of Growth Disturbance in Turner Syndrome and Outcomes of Growth-Promoting Treatments

  • Charmian A. Quigley
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Abstract

The growth pattern of untreated girls with Turner syndrome (TS) is one of inexorable growth failure from intrauterine life to the early 20s resulting in average adult height around 143–146 cm, which is about 20 cm shorter than women in the general population. The growth disturbance of TS appears to be multifactorial, due to combined effects of haploinsufficiency of the SHOX gene and disturbances of estrogen secretion and GH/IGF-I physiology. The goal of growth hormone (GH) treatment is to preserve height potential; prevent ongoing growth failure; optimize height during childhood, adolescence, and adulthood; and allow puberty (either spontaneous or induced) to proceed at an age similar to girls without TS. Randomized, controlled trials and observational studies of GH treatment demonstrate average adult height of treated groups around 148–150 cm, but there is wide variation in the range of attained adult heights for individual patients (~136–164 cm). Factors associated with taller adult height following GH treatment include younger age and taller height at start of treatment, taller parental heights, and greater GH dose.

Because girls with TS are at increased risk for disturbances of carbohydrate metabolism, and GH acts as a physiological insulin antagonist, they should be monitored for potential development of insulin resistance and type 2 diabetes.

Keywords

Height Height velocity Height standard deviation score Growth failure SHOX deficiency Growth hormone Adult height Near-adult height Oxandrolone Estrogen IGF-I 

Notes

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Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  • Charmian A. Quigley
    • 1
  1. 1.Sydney Children’s HospitalRandwickAustralia

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