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Pubertal Delay

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1. Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne muscular dystrophy. (PubMed)

Observational study of clinical outcomes for testosterone treatment of pubertal delay in Duchenne muscular dystrophy. Adolescents with DMD treated with chronic high dose GC therapy typically have profound pubertal delay. Testosterone, the main circulating androgen in men, promotes virilisation and growth with associated accrual of fat-free muscle mass and bone mineral content. Testosterone therapy is routinely used to mimic the normal stages of pubertal development in patients (...) with Duchenne muscular dystrophy and delayed puberty as they are managed with incremental testosterone therapy to induce puberty. Subjects will all be treated with a steadily increasing dose of testosterone administered by injection every 4 weeks and data will be collected to help us determine the effectiveness and tolerability of the described treatment regimen. We will use the data to explore the effects of testosterone on pubertal development, growth, muscle strength and function, bone mineral density

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2019 BMC Pediatrics

2. Contributions of function-altering variants in genes implicated in pubertal timing and body mass for self-limited delayed puberty. (PubMed)

Contributions of function-altering variants in genes implicated in pubertal timing and body mass for self-limited delayed puberty. Self-limited delayed puberty (DP) is often associated with a delay in physical maturation, but although highly heritable the causal genetic factors remain elusive. Genome-wide association studies of the timing of puberty have identified multiple loci for age at menarche in females and voice break in males, particularly in pathways controlling energy balance.We (...) altered demethylation activity of the mutant protein in vitro. Fto+/- mice displayed a significantly delayed timing of pubertal onset (P < 0.05).Mutations in genes implicated in body mass and timing of puberty in the general population may contribute to the pathogenesis of self-limited DP.Copyright © 2017 Endocrine Society

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2017 Journal of Clinical Endocrinology and Metabolism

3. Pre-pubertal exposure with phthalates and bisphenol A and pubertal development. (PubMed)

had reached mid-puberty. For girls, we observed a delayed pubertal development with the di-hexyl-ethyl phthalate (DEHP) metabolites (β: -0.16 to -0.23; p ≤ 0.05 or p ≤ 0.1), mono-n-butyl phthalate (β: -0.15; 95% CI: -0.31; 0.01), mono-benzyl phthalate (β: -0.11; 95% CI: -0,24; -0,01), and mono-ethyl phthalate (MEP) (β: -0.15; 95% CI: -0.28; -0.01). In addition, significant non-linear associations of the DEHP metabolites and BPA with the PD scores were found, when their quadratic effects were (...) Pre-pubertal exposure with phthalates and bisphenol A and pubertal development. Epidemiological studies indicate associations between childhood exposure with phthalates and bisphenol A (BPA) and the pubertal development. We examined associations between the pre-pubertal phthalate and BPA body burden and the longitudinally assessed sexual maturation of eight- to thirteen-year-old children.We started with eight- to ten-year-old children in the baseline study and quantified phthalate metabolites

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2017 PLoS ONE

4. Pubertal Delay

Pubertal Delay Pubertal Delay Toggle navigation Brain Head & Neck Chest Endocrine Abdomen Musculoskeletal Skin Infectious Disease Hematology & Oncology Cohorts Diagnostics Emergency Findings Procedures Prevention & Management Pharmacy Resuscitation Trauma Emergency Procedures Ultrasound Cardiovascular Emergencies Lung Emergencies Infectious Disease Pediatrics Neurologic Emergencies Skin Exposure Miscellaneous Abuse Cancer Administration 4 Pubertal Delay Pubertal Delay Aka: Pubertal Delay (...) Obtain karyotype Refer to pediatric endocrinology Pubertal range LH or FSH Constitutional delay of growth and (see above) Repeat measurements in 1-3 months Prepubertal range LH or FSH Persistent (10% of boys, 20% of girls) Dysmorphic features (e.g. Turner Syndrome) Radiation exposure Constitutional delay of growth and (60% of boys, 30% of girls) Most common cause of Delayed Puberty (diagnosis of exclusion) Consistent findings Delayed of Delayed Puberty (75% have parental Pubertal Delay) Consider Jump

2018 FP Notebook

5. Delayed puberty

Delayed puberty Delayed puberty - Symptoms, diagnosis and treatment | BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search  Delayed puberty Last reviewed: February 2019 Last updated: March 2018 Summary Defined as the lack of any pubertal signs by the age of 13 years in girls and 14 years in boys. More common in boys. May be functional (constitutional delay, underlying chronic disease, malnutrition, excessive exercise) or organic, due to either a lack of serum (...) gonadotrophin production or action (hypogonadotrophic hypogonadism), or gonadal insufficiency with elevated gonadotrophins (hypergonadotrophic hypogonadism). Most patients seek medical assistance because of slow growth rather than slow pubertal development. Careful assessment of height and pubertal stage is crucial for evaluation of the underlying cause. The distinction between organic gonadotrophin deficiency and constitutional delay of puberty is not easy and is often resolved only with time. Patients

2018 BMJ Best Practice

6. Role of amygdala kisspeptin in pubertal timing in female rats. (PubMed)

Role of amygdala kisspeptin in pubertal timing in female rats. To investigate the mechanism by which maternal obesity disrupts reproductive function in offspring, we examined Kiss1 expression in the hypothalamic arcuate (ARC) and anteroventral periventricular (AVPV) nuclei, and posterodorsal medial amygdala (MePD) of pre-pubertal and young adult offspring. Sprague-Dawley rats were fed either a standard or energy-dense diet for six weeks prior to mating and throughout pregnancy and lactation (...) . Male and female offspring were weaned onto normal diet on postnatal day (pnd) 21. Brains were collected on pnd 30 or 100 for qRT-PCR to determine Kiss1 mRNA levels. Maternal obesity increased Kiss1 mRNA expression in the MePD of pre-pubertal male and female offspring, whereas Kiss1 expression was not affected in the ARC or AVPV at this age. Maternal obesity reduced Kiss1 expression in all three brain regions of 3 month old female offspring, but only in MePD of males. The role of MePD kisspeptin

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2017 PLoS ONE

7. Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization (PubMed)

Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization We report on a 16-year-old boy with a maternally inherited ~ 18.3 Mb Xq13.2-q21.31 duplication delimited by aCGH. As previously described in patients with similar duplications, his clinical features included intellectual disability, developmental delay, speech delay, generalized hypotonia, infantile feeding difficulties, self-injurious behavior, short (...) stature and endocrine problems. As additional findings, he presented recurrent seizures and pubertal gynecomastia. His mother was phenotypically normal and had completely skewed inactivation of the duplicated X chromosome, as most female carriers of such duplications. Five previously reported patients with partial Xq duplications presented duplication breakpoints similar to those of our patient. One of them, a fetus with multiple congenital abnormalities, had the same cytogenetic duplication

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2016 Meta gene

8. Sex Steroid Treatment for Pubertal Induction and Replacement in the Adolescent Girl

Sex Steroid Treatment for Pubertal Induction and Replacement in the Adolescent Girl Sex Steroid T reatment for Pubertal Induction and Replacement in the Adolescent Girl Scientific Impact Paper No. 40 June 2013Sex Steroid Treatment for Pubertal Induction and Replacement in the Adolescent Girl 1. Introduction Girls with hypogonadism require sex steroid replacement that allows for progression through puberty as in girls with normal gonadal function. Inevitably, many girls presenting with pubertal (...) delay will require a shortened protocol of sex steroid replacement so that their development catches up with their peers. Historically, several forms of oestrogen and progesterone have been used for the induction of puberty with the choice being based mainly on local tradition. The main issues for consideration include the timing of the initiation of oestrogen for girls with known oestrogen deficiency, 1 the duration of unopposed oestrogen to be achieved to mimic normal puberty, possible

2013 Royal College of Obstetricians and Gynaecologists

9. Growth and pubertal development in HIV-infected adolescents. (PubMed)

Growth and pubertal development in HIV-infected adolescents. We present an overview of recent research in the inter-related areas of growth and pubertal development among adolescents with HIV. Growth deficits early in childhood can lead to delayed puberty, with subsequent effects on pubertal growth spurts and bone health.Impaired growth remains a critical concern, particularly in low-resource settings, where stunting, wasting and underweight remain pervasive. Antiretroviral treatment (ART (...) ) initiation results in improved growth, with greatest growth recovery in the first years and more improvement in weight than in height. However, even years after ART initiation, growth deficits persist in low-resource settings (LRS), and adolescents appear at particularly increased risk. The high prevalence of stunting translates to delays in pubertal onset and sexual maturity. In contrast, HIV-infected adolescents in developed countries do not demonstrate persistent wasting, yet still have delayed

2018 Current opinion in HIV and AIDS

10. Growth hormone in combination with leuprorelin in pubertal children with idiopathic short stature (PubMed)

Growth hormone in combination with leuprorelin in pubertal children with idiopathic short stature There is a scarcity of data from randomised controlled trials on the association of growth hormone (GH) with gonadotrophin-releasing hormone agonists in idiopathic short stature (ISS), although this off-label use is common. We aimed to test whether delaying pubertal progression could increase near-adult height (NAH) in GH-treated patients with ISS.Patients with ISS at puberty onset were randomised

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2018 Endocrine connections

11. Early-life and pubertal stress differentially modulate grey matter development in human adolescents (PubMed)

Early-life and pubertal stress differentially modulate grey matter development in human adolescents Animal and human studies have shown that both early-life traumatic events and ongoing stress episodes affect neurodevelopment, however, it remains unclear whether and how they modulate normative adolescent neuro-maturational trajectories. We characterized effects of early-life (age 0-5) and ongoing stressors (age 14-17) on longitudinal changes (age 14 to17) in grey matter volume (GMV) of healthy (...) adolescents (n = 37). Timing and stressor type were related to differential GMV changes. More personal early-life stressful events were associated with larger developmental reductions in GMV over anterior prefrontal cortex, amygdala and other subcortical regions; whereas ongoing stress from the adolescents' social environment was related to smaller reductions over the orbitofrontal and anterior cingulate cortex. These findings suggest that early-life stress accelerates pubertal development, whereas

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2018 Scientific reports

12. The effect of cannabis exposure on pubertal outcomes: a systematic review (PubMed)

of cannabis, including endocrine health. Animal studies have shown that chronic cannabis use leads to delayed sexual maturation; however, its effects on pubertal outcomes in children are not well studied. This systematic review aimed to assess the effect of cannabis use on pubertal timing and tempo in children.We conducted a systematic review with literature searches in MEDLINE, Embase, Cochrane Database of Systematic Reviews, Central, PsycINFO, CINAHL, Web of Science, and SPORTDiscus from inception (...) The effect of cannabis exposure on pubertal outcomes: a systematic review Several countries are legalizing the use of medicinal cannabis and easing restrictions on its recreational use. While adults have been the primary target of these initiatives, expanding access to cannabis will likely lead to increased use by children. While the effects of cannabis on pediatric neuropsychological and mental health outcomes have been broadly studied, there are limited data on the physical health effects

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2018 Adolescent health, medicine and therapeutics

13. SIRT1 mediates obesity- and nutrient-dependent perturbation of pubertal timing by epigenetically controlling Kiss1 expression (PubMed)

SIRT1 mediates obesity- and nutrient-dependent perturbation of pubertal timing by epigenetically controlling Kiss1 expression Puberty is regulated by epigenetic mechanisms and is highly sensitive to metabolic and nutritional cues. However, the epigenetic pathways mediating the effects of nutrition and obesity on pubertal timing are unknown. Here, we identify Sirtuin 1 (SIRT1), a fuel-sensing deacetylase, as a molecule that restrains female puberty via epigenetic repression of the puberty (...) and delays puberty. This delay is mimicked by central pharmacological activation of SIRT1 or SIRT1 overexpression, achieved via transgenesis or virogenetic targeting to the ARC. Our results identify SIRT1-mediated inhibition of Kiss1 as key epigenetic mechanism by which nutritional cues and obesity influence mammalian puberty.

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2018 Nature communications

14. Caregiving Disruptions Affect Growth and Pubertal Development in Early Adolescence in Institutionalized and Fostered Romanian Children: A Randomized Clinical Trial. (PubMed)

living in birth families (family care group) in Bucharest, Romania. Children were followed from baseline (21 months, range 5-31) through age 12 years for caregiving disruptions and growth trajectories and through age 14 years for pubertal development.Children randomized to the foster care group showed greater rates of growth in height, weight, and body mass index (BMI) through age 12 years than institutionalized group. Tanner development was delayed in institutionalized group boys compared (...) Caregiving Disruptions Affect Growth and Pubertal Development in Early Adolescence in Institutionalized and Fostered Romanian Children: A Randomized Clinical Trial. To determine the effects of foster care vs institutional care, as well as disruptions in the caregiving environment on physical development through early adolescence.This was a randomized controlled trial of 114 institutionalized, though otherwise healthy, children from 6 orphanages and 51 never institutionalized control children

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2018 Journal of Pediatrics

15. Genetics of pubertal timing. (PubMed)

Genetics of pubertal timing. To summarize advances in the genetics underlying variation in normal pubertal timing, precocious puberty, and delayed puberty, and to discuss mechanisms by which genes may regulate pubertal timing.Genome-wide association studies have identified hundreds of loci that affect pubertal timing in the general population in both sexes and across ethnic groups. Single genes have been implicated in both precocious and delayed puberty. Potential mechanisms for how (...) these genetic loci influence pubertal timing may include effects on the development and function of the GnRH neuronal network and the responsiveness of end-organs.There has been significant progress in identifying genetic loci that affect normal pubertal timing, and the first single-gene causes of precocious and delayed puberty are being described. How these genes influence pubertal timing remains to be determined.

2018 Current Opinion in Pediatrics

16. Testosterone Therapy for Pubertal Delay in Duchenne Muscular Dystrophy

Testosterone Therapy for Pubertal Delay in Duchenne Muscular Dystrophy Testosterone Therapy for Pubertal Delay in Duchenne Muscular Dystrophy - Full Text View - ClinicalTrials.gov Hide glossary Glossary Study record managers: refer to the if submitting registration or results information. Search for terms x × Study Record Detail Saved Studies Save this study Warning You have reached the maximum number of saved studies (100). Please remove one or more studies before adding more. Testosterone (...) Therapy for Pubertal Delay in Duchenne Muscular Dystrophy The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our for details. ClinicalTrials.gov Identifier: NCT02571205 Recruitment Status : Active, not recruiting First Posted : October 8, 2015 Last Update Posted : September 28, 2018 Sponsor: Newcastle-upon-Tyne Hospitals NHS Trust Information provided

2015 Clinical Trials

17. Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay. (PubMed)

Role of gonadotropin-releasing hormone receptor mutations in patients with a wide spectrum of pubertal delay. To analyze the GNRHR in patients with normosmic isolated hypogonadotropic hypogonadism (IHH) and constitutional delay of growth and puberty (CDGP).Molecular analysis and in vitro experiments correlated with phenotype.Academic medical center.A total of 110 individuals with normosmic IHH (74 male patients) and 50 with CDGP.GNRHR coding region was amplified and sequenced.Novel variants

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2014 Fertility and Sterility

18. Kisspeptin and Neurokinin B Signaling Network Underlies the Pubertal Increase in GnRH Release in Female Rhesus Monkeys. (PubMed)

Kisspeptin and Neurokinin B Signaling Network Underlies the Pubertal Increase in GnRH Release in Female Rhesus Monkeys. Loss-of-function or inactivating mutations in the genes coding for kisspeptin and its receptor (KISS1R) or neurokinin B (NKB) and the NKB receptor (NK3R) in humans result in a delay in or the absence of puberty. However, precise mechanisms of kisspeptin and NKB signaling in the regulation of the pubertal increase in gonadotropin-releasing hormone (GnRH) release in primates (...) are unknown. In this study, we conducted a series of experiments infusing agonists and antagonists of kisspeptin and NKB into the stalk-median eminence, where GnRH, kisspeptin, and NKB neuroterminal fibers are concentrated, and measuring GnRH release in prepubertal and pubertal female rhesus monkeys. Results indicate that (1) similar to those previously reported for GnRH stimulation by the KISS1R agonist (i.e., human kisspeptin-10), the NK3R agonist senktide stimulated GnRH release in a dose-responsive

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2017 Endocrinology

19. Dairy intake in relation to breast and pubertal development in Chilean girls. (PubMed)

Dairy intake in relation to breast and pubertal development in Chilean girls. Background: Frequent dairy consumption in childhood has been related to higher growth-hormone concentrations that may affect mammary gland and pubertal development.Objective: We evaluated the relation of dairy intake to breast composition at Tanner stage 4 and age at menarche.Design: A total of 515 Chilean girls are included in the Growth and Obesity Cohort Study. The subjects have been followed longitudinally since (...) consumption of sweetened, artificially-flavored milk-based drinks is associated with a higher %FGV, whereas higher yogurt intake is associated with a lower FGV and delayed age at menarche in Chilean girls.© 2017 American Society for Nutrition.

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2017 American Journal of Clinical Nutrition

20. The association of peripubertal serum concentrations of organochlorine chemicals and blood lead with growth and pubertal development in a longitudinal cohort of boys: A review of published results from the Russian Children’s Study (PubMed)

The association of peripubertal serum concentrations of organochlorine chemicals and blood lead with growth and pubertal development in a longitudinal cohort of boys: A review of published results from the Russian Children’s Study Organochlorine chemicals and lead are environmental exposures that have endocrine disrupting properties (EDCs) which interfere with many aspects of hormone action. Childhood and adolescence are windows of susceptibility for adverse health effects of EDCs. Our (...) ongoing study, the Russian Children's Study (RCS), is one of the few longitudinal studies investigating the impact of EDCs on growth and puberty in boys. It is conducted in the historically contaminated city of Chapaevsk, in the Samara region. The study focuses on evaluating the associations of persistent organochlorine chemicals and lead with growth and pubertal timing. At enrollment in 2003-2005, we collected blood from 516 boys at ages 8-9 years to measure dioxins, furans, polychlorinated biphenyls

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2017 Reviews on environmental health

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