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https://www.readbyqxmd.com/read/28899882/chromosome-15-structural-abnormalities-effect-on-igf1r-gene-expression-and-function
#1
Rossella Cannarella, Teresa Mattina, Rosita A Condorelli, Laura M Mongioì, Giuseppe Pandini, Sandro La Vignera, Aldo E Calogero
Insulin-like growth factor 1 receptor (IGF1R), mapping on the 15q26.3 chromosome, is required for normal embryonic and postnatal growth. The aim of the present study was to evaluate the IGF1R gene expression and function in three unrelated patients with chromosome 15 structural abnormalities. We report two male patients with the smallest 15q26.3 chromosome duplication described so far, and a female patient with ring chromosome 15 syndrome. Patient one, with a 568 kb pure duplication, had overgrowth, developmental delay, mental and psychomotor retardation, obesity, cryptorchidism, borderline low testis volume, severe oligoasthenoteratozoospermia and gynecomastia...
October 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28881543/-associations-between-overweight-obesity-and-puberty-timing-in-children-with-different-genders-in-china
#2
Y Y Xu, L Sun, X Guo, J Zhang, X M Lou, H Wang, F B Tao
Objective: To understand the associations between overweight-obesity and puberty timing in children with different genders. Methods: The girls in grade 2, 3, 7, 8 and boys in grade 3, 4, 7, 8 were recruited from primary and middle schools in North new area of Shenyang, Yanqing district of Beijing, Erqi district of Zhengzhou and Jiulongpo district of Chongqing by purposive sampling method between October and December 2014, respectively. The information of demographic characteristics of the respondents were collected and the pubertal development status was evaluated by Pubertal Development Scale (PDS)...
September 6, 2017: Zhonghua Yu Fang Yi Xue za Zhi [Chinese Journal of Preventive Medicine]
https://www.readbyqxmd.com/read/28873385/ghrelin-and-growth
#3
Reena Perchard, Peter E Clayton
Ghrelin is a pleiotropic hormone, whose effect on growth hormone secretion, through the growth hormone secretagogue (GHS) receptor, is one of its many actions. Relationships between GHS receptor gene variants and human height, both in healthy individuals and in patients with growth disorders have been identified. These include constitutional delay in growth and puberty, idiopathic short stature, and isolated growth hormone deficiency. In this review, we provide an overview of the role of ghrelin in growth.
2017: Endocrine Development
https://www.readbyqxmd.com/read/28873088/identifying-genetic-variants-that-affect-viability-in-large-cohorts
#4
Hakhamanesh Mostafavi, Tomaz Berisa, Felix R Day, John R B Perry, Molly Przeworski, Joseph K Pickrell
A number of open questions in human evolutionary genetics would become tractable if we were able to directly measure evolutionary fitness. As a step towards this goal, we developed a method to examine whether individual genetic variants, or sets of genetic variants, currently influence viability. The approach consists in testing whether the frequency of an allele varies across ages, accounting for variation in ancestry. We applied it to the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort and to the parents of participants in the UK Biobank...
September 2017: PLoS Biology
https://www.readbyqxmd.com/read/28870603/hormonal-correlates-of-development-and-natal-dispersal-in-wild-female-owl-monkeys-aotus-azarae-of-argentina
#5
Margaret Corley, Claudia Valeggia, Eduardo Fernandez-Duque
Pair-living and socially monogamous primates typically do not reproduce before dispersing. It is currently unclear whether this reproductive suppression is due to endocrine or behavioral mechanisms. Cooperatively breeding taxa, like callitrichids, may forego reproduction in natal groups because they reap inclusive fitness benefits and/or they are avoiding inbreeding. However, neither of these benefits of delayed reproduction appear to adequately explain the lack of reproduction prior to leaving the natal group in pair-living monogamous species...
September 1, 2017: Hormones and Behavior
https://www.readbyqxmd.com/read/28870491/the-effect-of-neonatal-immune-challenge-on-reproduction-by-altering-intraovarian-kisspeptin-gpr54-system-in-the-rat
#6
Bin-Qiao Wang, Yuan-Yuan Chen, Xiao-Xiao Lan, Zhi-Yang Zhou, Xin-Xin Xu, Xue-Qing Wu
Immune challenge in early life has been observed to influence the long-term reproductive dysfunction. On PNDs 3 and 5, female offsprings were administered with LPS (50μg/kg, i.p.) or saline. Vaginal opening was recorded, and oestrous cyclicity was monitored immediately post puberty and again at 56-70 days. At 10 weeks of age, the ovaries were removed for immunostaining and RNA analysis. Neonatal exposure to LPS resulted in a significant delay puberty onset as well as destroyed expression of ovulation related genes...
September 8, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28859208/height-increment-and-laboratory-profile-of-boys-treated-with-aromatase-inhibitors-with-or-without-growth-hormone
#7
Ludmila Fernandes Pedrosa, Joice Marquez de Oliveira, Paula Roberta Vieira Thomé, Cristiane Kochi, Durval Damiani, Carlos Alberto Longui
Aromatase inhibitors (AIs) have been used to recover height loss due to their capacity to delay growth plate closure. Long-term studies describing final heights are needed to determine the efficacy and safety profiles of these drugs for the treatment of impaired growth. This study aims to identify the therapeutic efficiency of AIs in improve growth and to describe potential adverse effects during treatment. Retrospective data analysis of 96 adolescents, among which 22 patients already attained near-final height, were followed at outpatient clinics of two referral centers...
August 31, 2017: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/28846730/role-of-amygdala-kisspeptin-in-pubertal-timing-in-female-rats
#8
Daniel A Adekunbi, Xiao Feng Li, Shengyun Li, Olufeyi A Adegoke, Bolanle O Iranloye, Ayodele O Morakinyo, Stafford L Lightman, Paul D Taylor, Lucilla Poston, Kevin T O'Byrne
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...
2017: PloS One
https://www.readbyqxmd.com/read/28845625/impact-of-carbohydrate-restriction-on-healthy-adolescent-development
#9
Hannah M Richmond, David M Duriancik
Carbohydrate-restricted diets are known for their impact on weight loss; however, research is still required to determine if low-carbohydrate diets are safe for adolescents. Carbohydrates directly stimulate an insulin response, and studies have recently shown that insulin and binding to respective insulin receptors (IRs) are critical in Kisspeptin (Kiss1) neuronal development. These neurons directly stimulate gonadotropin-releasing hormone, which activates the pituitary-gonadal axis during puberty. This information suggests that carbohydrate restriction may delay pubertal development in adolescents due to the impact on insulin and Kiss1 transcription...
September 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28821292/the-relationship-between-obesity-and-body-compositions-with-respect-to-the-timing-of-puberty-in-chongqing-adolescents-a-cross-sectional-study
#10
Fang He, Peiyu Guan, Qin Liu, Donna Crabtree, Linli Peng, Hong Wang
BACKGROUND: It is well known that excess adiposity during childhood may influence pubertal development. However, the extent to which body compositions vary in throughout puberty in boys and girls is currently unknown. The aim of this study was to investigate whether obesity and body compositions correlate with the timing of puberty in boys and girls. METHODS: By random cluster sampling, our study analyzed data from 1472 students (690 girls, 782 boys) aged 6-17 years from two schools in the Chongqing area...
August 18, 2017: BMC Public Health
https://www.readbyqxmd.com/read/28801297/-effect-of-metformin-on-insulin-resistance-during-catch-up-growth-in-mice-with-fetal-growth-restriction
#11
Ping Peng, Chun-Ling Ma, Shu-Mei Wan, Wen-Sheng Jin, Yan Gao, Tian-Qing Huang, Qi Cheng, Chang-Lan Ye
OBJECTIVE: To study the efficacy of metformin intervention on insulin resistance during catch-up growth in mice with fetal growth restriction (FGR). METHODS: Mouse models of FGR were established by low protein diet feeding of the pregnant mice. Both the newborn female mice with FGR and normal control (NC) mice were randomized for feeding with a standard diet (SF) or a high-fat diet (HF) after weaning and treatment with gavage of either metformin or normal saline...
August 20, 2017: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://www.readbyqxmd.com/read/28791186/a-case-of-male-osteoporosis-a-37-year-old-man-with-multiple-vertebral-compression-fractures
#12
Suhaib Radi, Andrew C Karaplis
While the contributing role of testosterone to bone health is rather modest compared to other factors such as estradiol levels, male hypogonadism is associated with low bone mass and fragility fractures. Along with stimulating physical puberty by achieving virilization and a normal muscle mass and improving psychosocial wellbeing, the goals of testosterone replacement therapy in male hypogonadism also include attainment of age-specific bone mineral density. We report on a 37-year-old man who presented with multiple vertebral compression fractures several years following termination of testosterone replacement therapy for presumed constitutional delay in growth and puberty...
2017: Case Reports in Endocrinology
https://www.readbyqxmd.com/read/28774622/method-to-assess-component-contribution-to-toxicity-of-complex-mixtures-assessment-of-puberty-acquisition-in-rats-exposed-to-disinfection-byproducts
#13
Shahid Parvez, Glenn E Rice, Linda K Teuschler, Jane Ellen Simmons, Thomas F Speth, Susan D Richardson, Richard J Miltner, E Sidney Hunter, Jonathan G Pressman, Lillian F Strader, Gary R Klinefelter, Jerome M Goldman, Michael G Narotsky
A method based on regression modeling was developed to discern the contribution of component chemicals to the toxicity of highly complex, environmentally realistic mixtures of disinfection byproducts (DBPs). Chemical disinfection of drinking water forms DBP mixtures. Because of concerns about possible reproductive and developmental toxicity, a whole mixture (WM) of DBPs produced by chlorination of a water concentrate was administered as drinking water to Sprague-Dawley (S-D) rats in a multigenerational study...
August 2017: Journal of Environmental Sciences (China)
https://www.readbyqxmd.com/read/28754744/klb-encoding-%C3%AE-klotho-is-mutated-in-patients-with-congenital-hypogonadotropic-hypogonadism
#14
Cheng Xu, Andrea Messina, Emmanuel Somm, Hichem Miraoui, Tarja Kinnunen, James Acierno, Nicolas J Niederländer, Justine Bouilly, Andrew A Dwyer, Yisrael Sidis, Daniele Cassatella, Gerasimos P Sykiotis, Richard Quinton, Christian De Geyter, Mirjam Dirlewanger, Valérie Schwitzgebel, Trevor R Cole, Andrew A Toogood, Jeremy Mw Kirk, Lacey Plummer, Urs Albrecht, William F Crowley, Moosa Mohammadi, Manuel Tena-Sempere, Vincent Prevot, Nelly Pitteloud
Congenital hypogonadotropic hypogonadism (CHH) is a rare genetic form of isolated gonadotropin-releasing hormone (GnRH) deficiency caused by mutations in > 30 genes. Fibroblast growth factor receptor 1 (FGFR1) is the most frequently mutated gene in CHH and is implicated in GnRH neuron development and maintenance. We note that a CHH FGFR1 mutation (p.L342S) decreases signaling of the metabolic regulator FGF21 by impairing the association of FGFR1 with β-Klotho (KLB), the obligate co-receptor for FGF21. We thus hypothesized that the metabolic FGF21/KLB/FGFR1 pathway is involved in CHH Genetic screening of 334 CHH patients identified seven heterozygous loss-of-function KLB mutations in 13 patients (4%)...
July 28, 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28750633/urinary-bisphenol-a-and-pubertal-development-in-chinese-school-aged-girls-a-cross-sectional-study
#15
Maohua Miao, Ziliang Wang, Xiaoqin Liu, Hong Liang, Zhijun Zhou, Hui Tan, Wei Yuan, De-Kun Li
BACKGROUND: Animal studies suggest that bisphenol A (BPA) may perturb pubertal development in females. However, evidence from human studies is limited. METHODS: This was a cross-sectional study to investigate the association between BPA exposure and pubertal development in school-aged girls. A total of 655 girls aged 9-18 years were selected from three schools in Shanghai, from May to June 2011. We collected one single spot urine sample from each girl. Urine BPA concentrations were measured by modified high-performance liquid chromatography and categorized according to LOD and the median of those above LOD...
July 27, 2017: Environmental Health: a Global Access Science Source
https://www.readbyqxmd.com/read/28749395/comparative-study-of-clinical-features-of-patients-with-celiac-disease-those-with-concurrent-celiac-disease-type-1-diabetes-mellitus
#16
Sanjay Kumar Bhadada, Ashu Rastogi, Aakash Agarwal, Rashi Kochhar, Rakesh Kochhar, Anil Bhansali
BACKGROUND & OBJECTIVES: Celiac disease (CD) and type 1 diabetes mellitus (T1DM) share a common genetic locus and clinical manifestations. The present study was planned to compare clinical, biochemical and hormonal profiles of patients with CD and CD with T1DM. METHODS: Records of CD patients with age ≤20 yr, available anthropometric measurements, haematological, biochemical and hormonal workup with tissue transglutaminase IgA antibody and duodenal biopsy (Marsh grade) were screened...
March 2017: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/28729172/ascorbic-acid-supplementation-partially-prevents-the-delayed-reproductive-development-in-juvenile-male-rats-exposed-to-rosuvastatin-since-prepuberty
#17
Gabriel Adan Araújo Leite, Thamiris Moreira Figueiredo, Marciana Sanabria, Ana Flávia Mota Gonçalves Dias, Patrícia Villela E Silva, Airton da Cunha Martins Junior, Fernando Barbosa Junior, Wilma De Grava Kempinas
Dyslipidemias are occurring earlier in the population due to the increase of obesity and bad eating habits. Rosuvastatin inhibits the enzyme HMG-CoA reductase, decreasing total cholesterol. Ascorbic acid is an important antioxidant compound for male reproductive system. This study aimed to evaluate whether ascorbic acid supplementation may prevent the reproductive damage provoked by rosuvastatin administration at prepuberty. Male pups were distributed into six experimental groups that received saline solution 0...
July 18, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28725213/can-brain-natriuretic-peptides-and-osteoprotegerin-serve-as-biochemical-markers-for-the-detection-of-aortic-pathology-in-children-and-adolescents-with-turner-syndrome
#18
REVIEW
Meenal Mavinkurve, Clodagh S O'Gorman
Turner syndrome (TS) is a chromosomal disorder that affects 1:2,000 females. It results from either the complete or partial loss of the X chromosome as well as other aberrations. Clinical features of TS include short stature, delayed puberty, and congenital cardiac malformations. TS children also have an increased prevalence of cardiometabolic risk factors, which predisposes them to complications like coronary artery disease, cerebrovascular-related deaths, and aortic dissection. Early cardiac imaging, such as echocardiography and cardiac magnetic resonance imaging, are recommended to detect underlying aortic pathology...
2017: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/28721218/spontaneous-reossification-of-the-sella-in-transsphenoidal-reoperation-associated-with-strontium-ranelate
#19
Maria Mercedes Pineyro, Daiana Arrestia, Mariana Elhordoy, Ramiro Lima, Saul Wajskopf, Raul Pisabarro, Maria Pilar Serra
Spontaneous reossification of the sellar floor after transsphenoidal surgery has been rarely reported. Strontium ranelate, a divalent strontium salt, has been shown to increase bone formation, increasing osteoblast activity. We describe an unusual case of a young patient with Cushing's disease who was treated with strontium ranelate for low bone mass who experienced spontaneous sellar reossification after transsphenoidal surgery. A 21-year-old male presented with Cushing's features. His past medical history included delayed puberty diagnosed at 16 years, treated with testosterone for 3 years without further work-up...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28698625/ectodysplasin-target-gene-fgf20-regulates-mammary-bud-growth-and-ductal-invasion-and-branching-during-puberty
#20
Teresa Elo, Päivi H Lindfors, Qiang Lan, Maria Voutilainen, Ewelina Trela, Claes Ohlsson, Sung-Ho Huh, David M Ornitz, Matti Poutanen, Beatrice A Howard, Marja L Mikkola
Mammary gland development begins with the appearance of epithelial placodes that invaginate, sprout, and branch to form small arborized trees by birth. The second phase of ductal growth and branching is driven by the highly invasive structures called terminal end buds (TEBs) that form at ductal tips at the onset of puberty. Ectodysplasin (Eda), a tumor necrosis factor-like ligand, is essential for the development of skin appendages including the breast. In mice, Eda regulates mammary placode formation and branching morphogenesis, but the underlying molecular mechanisms are poorly understood...
July 11, 2017: Scientific Reports
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