ESPE Abstracts (2023) 97 FC7.4

ESPE2023 Free Communications Sex differentiation, gonads and gynaecology or sex endocrinology (6 abstracts)

The effect of common genetic variants in CYP19A1 on serum Estradiol to Testosterone Ratio in healthy Danish children and adolescents

Veronica L. R. Groendahl 1,2 , Stine A. Holmboe 1,2 , Alexander S. Busch 1,2,3 , Lise Aksglaede 1,2 , Casper P. Hagen 1,2 , Trine H. Johannsen 1,2 , Jørgen H. Petersen 4 , Kristian Almstrup 1,2,5 , Hanne Frederiksen 1,2 & Anders Juul 1,2,6


1Department of Growth and Reproduction, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark. 2International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. 3Department of General Pediatrics, University of Münster, Münster, Germany. 4Department of Biostatistics, University of Copenhagen, Copenhagen, Denmark. 5Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark. 6Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark


Background and Aim: Despite the broad individual variation of pubertal maturation, references traditionally describe growth in relation to just chronological age and not biological age. Hence, growth references for the adolescent period have been of limited usefulness for monitoring individual growth in clinic and for research. Especially for children and adolescents with chronic diseases is there a need to better evaluate if changes in SD-scores just before and during the adolescent years are due to sub-optimal care or just a reflexion of early or late maturation. To fill this gap, we aimed to develop novel pubertal height, weight and BMI references for the adolescent years, adjusting for the broad variation in onset of pubertal growth.

Methods: To model QEPS-weight, 3595 subjects (1779 girls) from GrowUp1974Gothenburg and GrowUp1990Gothenburg were used. The QEPS-height-model was transformed to a corresponding QEPS-weight-model; thereafter, QEPS-weight was modified by an individual weight-height-factor (WHF). The QEPS-height and weight models were used to define a corresponding QEPS-BMI model. QEPS-BMI was modified by the same WHF. Longitudinal measurements from GrowUp1990Gothenburg were used to create weight references aligned for height at pubertal onset, defined as 5% of the specific pubertal growth (AgeP5). GrowUp1974Gothenburg subgroups based on pubertal timing, stature at pubertal onset, and childhood body composition were assessed using the novel references. We then have the opportunity to look at individual growth patterns aligned for the individual timing for both height, weight and BMI. 4 individuals (2 girls) were used to show the usefulness of the puberty aligned references in comparison with traditional references based on just chronological age.

Results: The new knowledge concerning individual variations due to the variation of pubertal timing and the impact of BMI and stature to these variations makes it possible to show individual growth patterns. Growth patterns aligned for the individual timing for both height, weight, and BMI as shown for 4 different individuals of both sexes with variations from the mean pubertal maturation as well as variations in mean stature and BMI. The results are compared with the traditional way of just relating height, weight, and BMI to chronological age.

Table 1: CYP19A1 SNPs in 1068 Danish boys and girls.
rs727479 CC CA AA total
n (%) 422 (36.2) 518 (44.5) 125 (10.7) 1065
rs2899472 CC CA AA
n (%) 93 (8.0) 403 (34.6) 568 (48.8) 1064
rs10046 CC TC TT
n (%) 262 (22.5) 554 (47.6) 252 (21.6) 1068

Conclusions: Novel pubertal height, weight, and BMI references consider individual variations in pubertal timing. These references will improve growth monitoring, especially for children with chronical diseases and overweight, obesity or underweight. Puberty aligned growth references may be a practical tool for making personalized medicine in paediatric endocrinology possible as demonstrated at ESPE 2022 meeting.

Volume 97

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

European Society for Paediatric Endocrinology 

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