Publications by authors named "Anders Juul"

The need for assisted reproductive technology (ART) has increased worldwide, leaving a negative impact on both physical and emotional health of the individual as well as on society depending on child births, thus biomarkers that can increase the success of ART are warranted. The luteinizing hormone/choriogonadotropin receptor (LHCGR) is released into blood and follicular fluid, and the level of soluble LHCGR (sLHCGR) in serum has previously been suggested to predict chances of pregnancy and live birth rate after ART. We aimed to investigate whether sLHCGR originates from the ovary and if serum or follicular fluid sLHCGR can predict the likelihood of pregnancy or live birth.

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Background And Objective: While all types of vitamin D metabolites are bound to vitamin D binding protein and albumin leaving only a small fraction in its free active form, only serum concentrations of total 25-hydroxy vitamin D (25OHD) are used to determine vitamin D status in clinical practice. This study aimed to describe the association of total 25-hydroxy vitamin D (25OHD), calculated free 25OHD, and free 25OHD% (free 25OHD × 100 %/total 25OHD) with mineral, bone, and metabolic variables and assess the impact of cholecalciferol supplementation.

Research Design And Methods: Secondary data from a single-center, double-blinded, randomized, placebo-controlled clinical trial (NCT01304927) in 307 infertile men.

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Background: It is well-established that spermatogenesis, semen quality, and reproductive hormones are interlinked. It is, however, less well-described how various specific testicular histopathologies are linked to reproductive hormones and semen quality.

Objectives: To describe the detailed relationship between specific testicular histopathologies and the serum concentrations of reproductive hormones and semen quality.

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  • A study analyzed the psychiatric health of patients with congenital adrenal hyperplasia (CAH) using extensive data from Danish hospitals over several decades.
  • It found that individuals with the most common form of CAH (21-hydroxylase deficiency) had significantly higher rates of psychiatric disorders and required psychiatric medications compared to the general population.
  • The results emphasize the importance of monitoring and addressing mental health issues in patients with 21-OHD, particularly due to the increased risks for both males and females.
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Introduction: Congenital adrenal hyperplasia (CAH) is characterized by a broad spectrum of symptoms. This study aims to describe genotype-phenotype correlations, clinical manifestations at diagnosis, and the frequency of feminizing surgery in childhood.

Methods: A nationwide retrospective cohort study of patients diagnosed with CAH, aged ≤18, between 1943 and 2018.

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Context: Obesity is associated with low vitamin D and recent studies have suggested a difference in vitamin D metabolism between females and males.

Objective: The aim of this study was to investigate the effects of weight loss on vitamin D status in individuals with obesity, and secondarily, whether vitamin D metabolism differs between women and men.

Methods: Secondary analysis from a randomized placebo-controlled trial, designed to investigate the efficacy of 52 weeks of treatment with either liraglutide, exercise or combined, compared with placebo on weight loss maintenance after an 8-week low-calorie diet-induced weight loss in 195 individuals with obesity (BMI 32-43 kg/m2).

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Introduction: Early morning basal serum luteinizing hormone (S-LH) ≥0.3 IU/L is a specific marker for the onset of central puberty. In this study, we aimed to investigate the sensitivity and specificity of the first-morning-voided (FMV) total urinary LH (U-LH) to replace this marker.

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Background: Environmental chemical exposures in utero may play a role in autism development. While preconception risk factors for autism are increasingly being investigated, little is known about the influence of chemical exposures during the preconception period, particularly for paternal exposures.

Methods: In 195 children from the Preconception Environmental exposures And Childhood health Effects (PEACE) cohort born to parents recruited from a fertility clinic in Boston, Massachusetts between 2004 and 2017, we quantified concentrations of 11 phthalate metabolites and bisphenol A (BPA) in urine samples collected from mothers and fathers before conception and mothers throughout pregnancy.

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  • DLK1, a protein linked to body weight, shows a decline in levels during infancy and through puberty in girls, with significant reductions noted in healthy infants.
  • The study examined three groups: healthy infant girls, girls going through puberty, and those with central precocious puberty (CPP) undergoing treatment.
  • Results indicate that DLK1 levels are not effective for diagnosing pubertal onset due to variability among individuals, but it does correlate negatively with birth weight and body fat percentage.
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  • Sperm production requires effective communication between Sertoli cells and germ cells, and researchers studied how RANKL activity in Sertoli cells affects this process.
  • They found that using the RANKL inhibitor denosumab led to increased testicular weight and germ cell growth in testis cultures and a specific mouse model.
  • In a clinical trial, while denosumab didn't improve overall semen quality, it did increase sperm concentration in infertile men with higher levels of anti-müllerian hormone (AMH), indicating a potential targeted treatment approach for male infertility based on AMH levels.
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Background: Female minipuberty is characterized by complex dynamics of circulating reproductive hormones, while the relationship between ovarian and uterine morphology and reproductive hormones remains to be elucidated.

Aim: To investigate the association between reproductive hormones and ovarian as well as uterine morphology by transabdominal ultrasound (TAUS) at minipuberty.

Methods: Secondary analysis from The Copenhagen Analgesic Study (COPANA) (ClinicalTrials.

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  • The study investigates the correlation of anogenital distance (AGD) in boys and girls from infancy to age 9, finding strong correlations in boys but weaker ones in girls.
  • AGD is a marker for prenatal androgen exposure, with implications for various reproductive health issues, including testicular cancer in boys and endometriosis in girls.
  • The research involved 1022 boys and 887 girls, measuring AGD at multiple ages, and used Pearson correlation coefficients to assess the stability and predictive values of AGD over time.
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Objective: Age at pubertal onset has decreased over the recent decades. Early maturing girls have longer puberty duration, and higher peak height velocity (PHV) than late maturing girls. To what extent this is generated by increased insulin-like growth factor-I (IGF-I), fat mass, or fasting insulin levels is currently unknown.

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The treatment of childhood cancer is challenged by toxic side effects mainly due to chemotherapy-induced organ damage and infections, which are accompanied by severe systemic inflammation. Insulin-like growth factor I (IGF-I) is a key regulating factor in tissue repair. This study investigated associations between the circulating IGF-I levels and chemotherapy-related toxicity in pediatric acute lymphoblastic leukemia (ALL).

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  • Somapacitan, a weekly growth hormone treatment, was tested in a study involving short children born small for gestational age (SGA) to evaluate its efficacy and safety compared to daily growth hormone.
  • The study involved 62 participants across 38 sites globally, with findings showing that higher doses of somapacitan led to significant growth in height compared to daily GH, with similar results regarding insulin-like growth factor levels.
  • After 52 weeks, somapacitan at 0.24 mg/kg/week was found to be as effective, safe, and well-tolerated as the higher daily GH dose of 0.067 mg/kg/day for promoting growth in these children.
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Objective: Cosmetic paraffin oil injections can lead to granuloma formation causing hypercalcemia and kidney failure. This study explores whether debulking surgery is an effective treatment for improving calcium homeostasis, inflammation and clinical symptoms.

Materials And Methods: In a retrospective study, we reviewed 33 patients undergoing debulking surgery.

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Introduction: Partial androgen insensitivity syndrome (PAIS) is a rare condition that is reported to be commonly associated with gynecomastia in males.

Objectives: To assess the management of gynecomastia in male PAIS.

Materials And Methods: Retrospective review of males with PAIS over the age of 10 years in the I-DSD registry.

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Introduction: The peptide hormone Insulin-like Factor 3 (INSL3) is a biomarker of testicular Leydig cells in the male but is also expressed by the theca cells of the ovaries. With the advent of sensitive assays INSL3 can be quantified in female circulation, and we suggest that circulating INSL3 is a novel biomarker for pubertal development in girls. The aim of the study is to quantify INSL3 by LC-MS/MS in sera from normal girls during pubertal transition, and during gonadal suppression by GnRH agonist therapy in girls with central precocious puberty (CPP).

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Background: Reference intervals covering the whole life span for all the metabolites in the steroid hormone biosynthesis quantified by sensitive and robust analytical methods are sparse or not existing.

Objective: To develop a state-of-the-art LC-MS/MS method for simultaneous quantification of multiple steroid metabolites and to establish detailed sex- and age-specific reference intervals for 16 steroid metabolites.

Materials And Method: An isotope diluted LC-MS/MS method was developed for simultaneous quantitation of 16 steroid hormones.

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  • Scientists looked at the timing of when girls start their periods (called menarche) and how it can affect their health later in life.
  • They studied about 800,000 women and found over a thousand genetic signals that influence when menstruation starts.
  • Some women have a much higher chance of starting their periods too early or too late based on their genetic makeup, suggesting that genes play a big role in this process!
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  • Prednisolone and prednisone are common treatments for adults with congenital adrenal hyperplasia (CAH), but there hasn't been a direct comparison with hydrocortisone until this study.
  • The study was a six-month open-label randomized phase 3 trial, where patients either continued on prednis(ol)one or switched to modified-release hydrocortisone capsules (MRHC).
  • Results showed that MRHC significantly reduced levels of 17-hydroxyprogesterone (17OHP) compared to prednis(ol)one, with a majority of patients able to decrease their MRHC dosage over time and fewer experiencing adrenal crises.
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Context And Objectives: To date, only four loss-of-function variants in the GNA11 gene encoding the G protein subunit α11 (Gα11) leading to familial hypocalciuric hypercalcemia 2 (FHH2) have been characterized. Gα11 is involved in calcium-sensing receptor (CaSR) signaling, and loss-of-function variants in GNA11 lead to reduced agonist potency at CaSR and an FHH phenotype.

Design And Participants: We have identified a family with a heterozygous GNA11 Thr347Ala variant and characterized its impact on calcium homeostasis in FHH2 patients and the signaling properties of CaSR through the Gα11-Thr347Ala variant in vitro.

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