ESPE2024 Rapid Free Communications Growth and Syndromes (6 abstracts)
1GP-GRC, Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. 2Department of Paediatrics, Halland Hospital, Halmstad, Sweden. 3Department of Research and Development, Region Halland, Halmstad, Sweden. 4Department of Physiology/Endocrinology, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. 5Muvara bv, Multivariate Analysis of Research Data, Leiderdorp, Netherlands. 6APNC, Gothenburg, Sweden. 7Department of Ophthalmology, Institute of Neuroscience and Physiology, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden. 8Department of Growth and Reproduction, Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark. 9International Centre for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Copenhagen University Hospital – Rigshospitalet, Copenhagen, Denmark
Introduction: Klinefelter syndrome (KS, 47XXY) is the most frequent sex chromosome abnormality in males (prevalence 1/667), with tall stature as one of the key characteristics. We aimed to analyse growth patterns during different growth phases and adult height in KS using the QEPS-model.
Methods: Longitudinal growth-data from 35 boys with KS followed at a tertiary Danish center for paediatric endocrinology were compared with a reference population from GrowUp1974Gothenburg cohort. The QEPS-model describes individual growth from fetal life to adulthood, using four mathematical functions. A quadratic-function (Q) representing basic continuous growth from early fetal life until adult height, a stop-function (S), the exponential function (E) specific for early-life growth and the specific pubertal function (P).
Results: At birth, there were no significant differences between boys with KS and the reference population (Table 1). Compared to reference population, boys with KS had in early-life infancy lower Emax, 63.4 vs 65.1cm, shorter Etimescale (earlier end of E-function), and more basic, continuous Q-function growth, Qmax 111.5 vs 104.1cm. Boys with KS had earlier onset of pubertal growth (AgeP5 11.3/vs 11.8years), 0.5years earlier peak height velocity (AgeTPHV) and equal specific pubertal height gain, Pmax, 17.6 vs 17.4cm. Adult height was 4.1cm higher, 184.6 vs 180.5cm, +0.6SDS vs reference (P = 0.004), and vs parents height difference of +0.7SDS (P <0.0001).
Variable | Klinefelter n = 35 | 1974-reference n = 1174 | p-value Klinefelter vs 1974-reference |
Birth weight (g) | 3365±607 n = 33 | 3517±486 n = 1174 | 0.16 |
Birth length (cm) | 51.0±2.8 n = 32 | 50.5±2.1 n = 1174 | 0.36 |
Mothers height (cm) | 167.0±6.0 n = 29 | 166.8±6.2 n = 892 | 0.83 |
Fathers height (cm) | 179.3±7.4 n = 29 | 179.5±6.7 n = 898 | 0.85 |
TargetHeightSDS | -0.07±0.76 n = 29 | -0.07±0.71 n = 872 | 0.99 |
Emax(cm) | 63.4±3.3 n = 35 | 65.1±2.9 n = 1174 | 0.0006 |
Etsc | 0.96±0.10 n = 35 | 1.01±0.09 n = 1174 | 0.0012 |
Qmax (cm) | 111.5±11.9 n = 35 | 104.1±8.0 n = 1174 | 0.0008 |
Pmax (cm) | 17.6±4.5 n = 35 | 17.4±3.6 n = 1174 | 0.71 |
Age P5 (years) | 11.3±1.0 n = 35 | 11.8±1.0 n = 1174 | 0.0031 |
Age TPHV (years) | 13.2±1.1 n = 35 | 13.7±1.0 n = 1174 | 0.0021 |
Adult height, Tmax | 184.6±8.2 n = 35 | 180.5±6.7 n = 1174 | 0.0004 |
Data as mean±standard deviation, Mann-Whitney U-test for skewed continuous variables, normally distributed data two-sample t-test. |
Conclusion: To our knowledge, this is the first mathematical modelling of growth from birth to adult height for individuals with KS. The prepubertal growth in KS was characterized by a shorter infancy period with less growth, more basic growth during childhood and puberty, resulting in taller adult height.