The COPENHAGEN Mini-puberty Cohort - EDMaRC

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The COPENHAGEN Mini-puberty Cohort

What is Mini-puberty?
Sexual maturation is a process that results in reproductive capability and starts with the activation of the hypothalamic-pituitary-gonadal hormone axis (HPG-axis). In many animals this activation happens shortly after birth. However, in primates, including humans, the early activation of the HPG-axis is only transient (the so-called mini-puberty) and starting from 3-6 months of age it is turned off again in humans. Human sexual maturation is thus not continued until the HPG-axis is reactivated at puberty onset. The mechanisms behind the inhibition of the human HPG axis in infancy remain unknown.
Regulation of Puberty and Origin of Disorders of Sex Development
So far the focus of research on human sexual maturation has been on the period immediately prior to, during, and after the onset of puberty in order to understand why some children mature early, some late and why some reproductive diseases such as Disorders of Sex Development (DSD) occur. However, puberty may in fact be the wrong time period to study to understand how sexual maturation is regulated in humans. It may in fact be more relevant to elucidate the factors that shut down the HPG-axis in infancy following the mini-puberty and keep the axis silenced until puberty rather than looking for factors that start it in puberty. For this reason, we have launched the COPENHAGEN Mini-puberty Study, a unique, prospective study of 200 healthy newborns along with newborns with DSD.
Study Design
Healthy newborns and their parents are recruited during pregnancy and newborns with DSD are recruited on referral to our clinic. All babies are examined clinically including anthropometric measurements, AGD measurements, blood samples (reproductive hormones, genetic polymorphisms, DNA methylation) and urine samples with 2 month intervals between birth and 1 year of age. We aim to identify dynamic changes of the HPG-axis along with factors that explain its inhibition following mini-puberty. The aim is to improve our understanding of the regulation of normal puberty and sexual maturation along with gaining insight into causes of reproductive diseases. The study has been approved by (# NCT02784184) and the local ethics committee (H15014876).
Recruitment started September 2016 and is expected to be completed by medio 2019
Main Sponsors
Aase og Ejnar Danielsens Fond
Region Hovedstadens Forskningspulje
The Project Group
EDMaRC and Department of Growth and Reproduction, Rigshospitalet:
Principal and Senior Investigators
Anders Juul, professor, M.D., D.MSc, PhD (PI)
Casper Hagen, M.D., D.MSc, PhD
Rikke Beck, M.D., PhD
Junior Investigators
Alexander S. Busch, MD PhD-student
Marie Lindhardt Johansen, MD, PhD-student
Emmie N. Upners, MD, PhD-student
Department of Obstetrics, Rigshospitalet:
Ann Tabor, professor, M.D., D.MSc.
Rikke Nue Møller, head midwife
Britt Strøm Johansen, deputy head midwife
Department of Endocrinology, Rigshospitalet
Elisabeth Reinhardt Mathiesen, professor, M.D., D.MSc.
Peter Damm, professor, M.D., D.MSc.
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