A5059793960- Sexual Differentiation and Disorders
- Ovarian function and disorders
- Hypothalamic control of reproductive hormones
- Hormonal and reproductive studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Growth Hormone and Insulin-like Growth Factors
- Birth, Development, and Health
- RNA Research and Splicing
- Effects and risks of endocrine disrupting chemicals
- Genetic Associations and Epidemiology
- Sperm and Testicular Function
- Public Administration and Political Analysis
- Sociology and Education Studies
- Economic and Social Issues
- Urological Disorders and Treatments
- Menstrual Health and Disorders
- Reproductive Biology and Fertility
- German Social Sciences and History
- Male Breast Health Studies
- Testicular diseases and treatments
- Ovarian cancer diagnosis and treatment
- Genetic Syndromes and Imprinting
- Urologic and reproductive health conditions
- Adipose Tissue and Metabolism
- Evolutionary Psychology and Human Behavior
Rigshospitalet
2016-2025
Copenhagen University Hospital
2017-2025
University of Copenhagen
2016-2024
University of Münster
2014-2024
University Hospital Münster
2023
MRC Epidemiology Unit
2018-2021
University of Cambridge
2018-2021
Medical Research Council
2019-2020
Helios Dr. Horst Schmidt Kliniken Wiesbaden
2017
Reproduktionsmedizin München
2015
The genetics of sexual orientation Twin studies and other analyses inheritance in humans has indicated that same-sex behavior a genetic component. Previous searches for the specific genes involved have been underpowered thus unable to detect signals. Ganna et al. perform genome-wide association study on 493,001 participants from United States, Kingdom, Sweden associated with (see Perspective by Mills). They find multiple loci implicated indicating that, like behavioral traits,...
There has been a worldwide secular trend toward earlier onset of puberty in the general population. However, it remains uncertain if these changes are paralleled with increased incidence central precocious (CPP) and normal variant (ie, premature thelarche [PT] adrenarche [PA]) because epidemiological evidence on time trends disorders is scarce.To provide valid data 20-year rates CPP puberty.This population-based, cohort study used national registry for all youth Denmark registered an...
Abstract Context Standardized description of external genitalia is needed in the assessment children with atypical genitalia. Objectives To validate External Genitalia Score (EGS), to present reference values for preterm and term babies up 24 months correlate obtained scores anogenital distances (AGDs). Design, Setting A European multicenter (n = 8) validation study was conducted from July 2016 2018. Patients Methods EGS based on masculinization score but uses a gradual scale female male...
Abstract Puberty marks numerous physiological processes which are initiated by central activation of the hypothalamic–pituitary–gonadal axis, followed development secondary sexual characteristics. To a large extent, pubertal timing is heritable, but current knowledge genetic polymorphisms only explains few months in inter-individual variation puberty. We have analysed longitudinal genome-wide changes DNA methylation peripheral blood samples (n = 102) obtained from 51 healthy children before...
Abstract The timing of puberty is highly variable and associated with long-term health outcomes. To date, understanding the genetic control based largely on studies in women. Here, we report a multi-trait genome-wide association study for male an effective sample size 205,354 men. We find moderately strong genomic correlation between sexes (rg = 0.68) identify 76 independent signals timing. Implicated mechanisms include unexpected link natural hair colour, possibly reflecting common effects...
Several phthalates have been restricted/banned due to their adverse endocrine disrupting properties. The use of other and substitutes has increased. Here we examine the current exposure in family trios comprised infants parents exclusive breastfed following introduction a mixed diet.Metabolites 15 two substitutes, di(2-ethylhexyl)-teraphthalate (DEHTP) diisononyl-cyclohexane-1,2-dicarboxylate (DINCH), were measured urine samples collected from >100 paired 67 infants, while they exclusively...
Abstract Context The male hypothalamic-pituitary-gonadal (HPG) axis is transiently active during the first months of life with surging serum concentrations reproductive hormones. This period, termed minipuberty, appears to be essential for priming testicular function. Despite central role function, longitudinal data on HPG activation in infancy sparse. Objective To explore dynamics hormone activity healthy infants, assess association and volume, establish reference curves levels Design...
Minipuberty, a period of transient activation the hypothalamic-pituitary-gonadal (HPG) axis in both sexes, enables evaluation gonadal function infants suspected hypogonadism. However, female minipuberty remains poorly elucidated.
Initiation and progression of puberty requires concerted action hypothalamic activating inhibiting factors. Recently, cases familial central precocious have been linked to loss-of-function mutations makorin RING-finger protein 3 (MKRN3) indicating a pivotal inhibitory role the on GnRH secretion.To investigate peripubertal circulating MKRN3 levels in healthy boys.Population-based longitudinal study Danish boys.General community.Healthy boys (n = 60) aged (median [range]) 9.3 (5.8-11.8) years...
Abstract Context Pubertal timing in boys is associated with body mass index (BMI). Studies consistently report an inverse correlation of BMI and pubertal within the normal range. However, observations obese are conflicting different studies reporting either early or delayed onset boys. Objective We aimed to assess association male age-specific (zBMI) Design, Setting, Participants A total 218 (zBMI > +2SD, a median age at baseline 10.8 years (range 4.2–17.0), were recruited as part...
Abstract STUDY QUESTION How is timing of voice break related to other male pubertal milestones as well BMI? SUMMARY ANSWER We provide a comprehensive temporal analysis milestones, including reproductive hormone dynamics, confirm late milestone puberty and report likely causal relationship between higher BMI earlier age at in men. WHAT IS KNOWN ALREADY Voice represents recalled frequently used epidemiological studies measure puberty. In contrast, clinical use mainly testicular enlargement...
Abstract Background The hypothalamic‐pituitary‐gonadal (HPG) axis governs sexual maturation and reproductive function in humans. In early postnatal life, it is transiently active during which circulating sex steroids reach adult levels. While this so‐called minipuberty represents a universal phenomenon infants of both sexes, its role for growth remains incompletely understood. Objectives To provide normative data on auxology as well serum urinary hormone levels healthy, full‐term throughout...
The manifestation of acne in adolescents coincides with the emergence other androgen-dependent characteristics puberty such as sweat odour, and pubic hair. Yet little is known about associations circulating levels androgens. Thus, objective was to study prevalence healthy children according sex, age, pubertal stage, concentrations testosterone dihydrotestosterone (DHT) quantified by LC-MS/MS. This a secondary analysis larger on puberty. Data included combined cross-sectional longitudinal...
Summary Clinical management of congenital hyperinsulinism (CHI) remains a significant challenge due to its complex pathophysiology and the limitations available therapies. Dasiglucagon, synthetic glucagon analog, represents novel approach managing CHI, particularly in patients where conventional therapies fail. This report discusses rare case prolonged continuous subcutaneous dasiglucagon use neonate with CHI. Despite initial stabilization glycemic levels, patient developed necrolytic...
A polymorphism in the FSHB promoter (-211G→T, rs10835638) was found to be associated with decreased FSH, elevated LH, reduced testosterone, and oligozoospermia males. Although FSH is pivotal for ovarian function, no data on consequences of -211G→T are available females.We studied effects hypothalamic-pituitary-ovarian axis women.In a university-based vitro fertilization unit, women undergoing standardized diagnostics were genotyped compared fertile control group.The study group consisted 365...
ContextClinical use of single serum gonadotropin measurements in children is limited by the pulsatile secretion follicle-stimulating hormone (FSH) and luteinizing (LH). However, first morning voided (FMV) urine may integrate fluctuating levels.
Abstract Context The use of anogenital distance (AGD) in clinical and epidemiological settings is increasing; however, sex-specific reference data on AGD longitudinal changes children scarce. Objective To create age-, sex-, method-related ranges healthy boys girls aged 0–24 months, to assess the age-related evaluate 2 predominantly used methods measurement. Design International consortium comprising 4 centers compiled from 1 cross-sectional 3 cohort studies (clinicaltrials.gov...
Abstract Context A close link between body mass index (BMI) and female pubertal onset is well established. However, observations in boys remain inconclusive. Objective We aim to determine whether BMI as total central adiposity prepubertal Chilean associated with timing. Methods performed a longitudinal study which 494 from the Growth Obesity Cohort Study were followed starting birth throughout puberty, including 5 visits. The main outcome measures included anthropometric data semi-annual...
The transient postnatal activation of the hypothalamic-pituitary-gonadal hormone axis is termed minipuberty and considered an important developmental period, which highly sensitive to endocrine disruption. Here, we explore exposure-outcome associations during between concentrations potentially disrupting chemicals (EDCs) in urine infant boys their serum reproductive concentrations. In total, 36 participating COPENHAGEN Minipuberty Study had data available for both biomarkers target hormones...
Abstract STUDY QUESTION What is the impact of variants in genes INSL3 (Insulin Like 3) and RXFP2 (Relaxin Family Peptide Receptor 2), respectively, on cryptorchidism male infertility? SUMMARY ANSWER Bi-allelic loss-of-function (LoF) result bilateral infertility, whereas heterozygous variant carriers are phenotypically unaffected. WHAT IS KNOWN ALREADY The small heterodimeric peptide its G protein-coupled receptor play a major role first step biphasic descent testes, have long been implicated...
To describe the natural history of inhibin B throughout life according to sex, age, and pubertal development.