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.... Show moreBackground/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 withACANhaploinsufficiency.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 withACANhaploinsufficiency 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 withACANhaploinsufficiency 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 ofACANhaploinsufficiency have an elevated mean AS/H in childhood and adolescence and a slightly elevated ratio till 50 years. Show less
Turner syndrome (TS) is a disorder in females that is caused by the complete or partial absence of the second sex chromosome. The main characteristics are gonadal dysgenesis and short stature, with... Show moreTurner syndrome (TS) is a disorder in females that is caused by the complete or partial absence of the second sex chromosome. The main characteristics are gonadal dysgenesis and short stature, with adult patients being on average 20 cm shorter than healthy women. Growth hormone (GH) therapy increases adult height with 5 to 12 cm and the addition of the weak androgen oxandrolone (Ox) may further increase adult height. This thesis describes the results of the first randomized, double-blind, placebo-controlled study on the question whether GH-treated girls with Turner syndrome would profit from Ox therapy, and if so, which Ox dosage should be given. It was concluded that the conventional Ox dosage (0.06 mg/kg/day) should not be used because of its limited efficacy and virilizing capacity. In contrast, the addition of Ox at a dosage of 0.03 mg/kg/day starting between the age of 8 to 15 years increases height during therapy, modestly increases adult height gain and has a fairly good safety profile, except for a small deceleration in breast development. In patients considering this deceleration less important than the increment in height gain, we therefore suggest to add Ox 0.03 mg/kg/day to GH to increase height. Show less
