IMPE2023 Poster Presentations Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (19 abstracts)
Birth weight and height in individuals with SF-1/NR5A1 variants: Results from the international SF1next study
Chrysanthi Kouri 1,2,3 , Grit Sommer 1,2 , Idoia Martinez de Lapiscina 1,2,4 , LIoyd Tack 5 , Martine Cools 5 , Christa E Flück 1,2 & SF1next study group 1
1Pediatric Endocrinology, Diabetology and Metabolism, Department of Pediatrics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland. 2Department for BioMedical Research, University of Bern, Bern, Switzerland. 3Graduate School for Cellular and Biomedical Sciences, University of Bern, Bern, Switzerland. 4Biocruces Bizkaia Health Research Institute, Cruces University Hospital, UPV-EHU, CIBERDEM, CIBERER, Endo-ERN, Barakaldo, Spain. 5Department of Internal Medicine and Paediatrics, Division of Paediatric Endocrinology, Ghent University Hospital, Ghent University, Ghent, Belgium
Background: Variants in Steroidogenic Factor 1 (SF-1/NR5A1) lead to a broad spectrum of phenotypes including differences of sex development (DSD). Individuals with DSD are born more often small for gestational age and are smaller than the general population, but mechanisms remain unclear. In this study we assessed if SF-1/NR5A1 variants may play a role in growth impairment and whether auxological parameters correlate with the degree of DSD in an international cohort of individuals with SF-1/NR5A1 variants.
Methods & Patients: Collaborators from 32 centres (I-DSD registry and beyond) provided retrospective data on auxological parameters (birth weight and height) and on DSD phenotype of individuals with SF-1/NR5A1 variants (SF1next study group: https://www.dropbox.com/s/mpxzw9rhueewf8s/SF1next%20study%20group_IMPE.pdf?dl=0). We calculated standard deviation scores (SDS) for birth weight according to gestational age and for height at last consultation, based on karyotype using reference data from the INTERGROWTH-21st study and the WHO. We classified individuals into three DSD phenotype groups based on the degree of DSD, defined by the deviation of the external genitalia at birth from the typical phenotype for karyotype. We tested differences in birth weight and height from the general population using one-sample Wilcoxon signed-rank tests and between the DSD phenotype groups using Kruskal-Wallis tests.
Results: Median birth weight SDS was -0.6 (P25 -1.3, P75 -0.1, P<0.001). At last consultation (median age 14 years, range 2-40 years), median height SDS was -0.2 (P25 -1, P75 0.6, P=0.1811). Median adult height SDS was -0.8 (P25 -1.8, P75 0.6, P=0.064). Birth weight or height was similar in the DSD phenotype groups (P>0.443).
| Birth weight n=85 n(%) | Height at last consultation n=65 n(%) | Adult height n=14 n(%) | |
| Karyotype | 79 (93%) | 56 (86%) | 8 (57%) |
| 46,XY | 5 (6%) | 8 (12%) | 6 (43%) |
| 46,XX | 1 (1%) | 2 (2%) | 0 (%) |
| 47,XXY | |||
| DSD phenotype group | |||
| No/mild DSD | 7 (8%) | 8 (12%) | 4 (29%) |
| Severe DSD | 57 (67%) | 40 (62%) | 7 (50%) |
| Opposite sex | 21 (25%) | 17 (26%) | 3 (22%) |
Conclusion: Variants in the SF-1/NR5A1 gene may play a role in fetal growth, but later in life individuals with SF-1/NR5A1 variants had a normal height. However, our cohort is still young (median age 14 years) with only 14 individuals having reached adult height. Long-term studies with higher statistical power are important to investigate whether SF-1/NR5A1 plays a role in growth and by which mechanisms.
Article tools
My recent searches
My recently viewed abstracts
IMPE Abstracts
© Bioscientifica 2025 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more