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https://www.readbyqxmd.com/read/28444173/tac1-signaling-is-required-for-sexual-maturation-and-responsiveness-of-gnrh-neurons-to-kisspeptin-in-the-male-mouse
#1
Caroline A Maguire, Yong Bhum Song, Min Wu, Silvia León, Rona S Carroll, Meenakshi Alreja, Ursula B Kaiser, Víctor M Navarro
The tachykinins substance P (SP) and neurokinin A (NKA) (Tac1) have emerged as novel regulators of kisspeptin/GnRH release. Recently, we documented that SP modulates reproductive function in the female mouse. Here, we extended this characterization to the male mouse. Tac1-/- male mice showed delayed puberty onset. They also presented significantly decreased expression levels of Pdyn (dynorphin) and Nos1 (nitric oxide synthase) in the mediobasal hypothalamus and elevated Gnrh1 levels. Unexpectedly, the response of Tac1-/- mice to central kisspeptin or senktide (neurokinin B receptor -NK3R- agonist) administration was significantly decreased compared with controls, despite the preserved ability of GnRH neurons to stimulate LH release as demonstrated by central NMDA administration, suggesting a deficit at the GnRH neuron level...
April 21, 2017: Endocrinology
https://www.readbyqxmd.com/read/28443259/the-different-effects-of-gonadotropin-releasing-hormone-agonist-therapy-on-body-mass-index-and-growth-between-normal-weight-and-overweight-girls-with-central-precocious-puberty
#2
Won Jun Yang, Keun Hyeok Ko, Kon Hee Lee, Il Tae Hwang, Yeon Joung Oh
PURPOSE: The effects of gonadotropin-releasing hormone agonist (GnRHa) treatment on body mass index (BMI) are controversial in girls with central precocious puberty (CPP). We therefore evaluated auxological parameters during GnRHa therapy in patients with CPP, specifically focusing on changes in BMI. METHODS: Seventy-seven girls with idiopathic CPP who underwent GnRHa therapy were retrospectively recruited. We investigated BMI changes during the treatment period after stratifying them according to baseline BMI status as follows: normal (BMI percentile of <85th) and overweight groups (BMI percentile of ≥85th)...
March 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/28433099/other-organ-involvement-and-clinical-aspects-of-wilson-disease
#3
Karolina Dzieżyc, Tomasz Litwin, Anna Członkowska
Wilson disease (WD) is a rare disorder of copper metabolism that presents mainly with hepatic and neuropsychiatric features. Copper accumulates not only in the liver and brain, but also in other organs. Liver injury can also be the cause of secondary impairment of other tissues. Therefore, the clinical manifestation of WD may be renal, cardiac, skin, osteoarticular, or endocrinologic and include other organ disturbances. Renal abnormalities include tubular dysfunction (e.g., renal tubular acidosis, aminoaciduria) and nephrolithiasis...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28432332/involvement-of-gonadotropin-inhibitory-hormone-in-pubertal-disorders-induced-by-thyroid-status
#4
Mika Kiyohara, You Lee Son, Kazuyoshi Tsutsui
Thyroid disorders cause abnormal puberty, indicating interactions between the hypothalamus-pituitary-thyroid (HPT) and hypothalamus-pituitary-gonadal (HPG) axes, which are important in pubertal development. The hypothalamic gonadotropin-inhibitory hormone (GnIH) was shown to be decreased in the early prepubertal stage, suggesting the role of GnIH on pubertal onset. Here, we investigated whether thyroid dysfunction affects pubertal onset in female mice via GnIH regulation. Hypothyroidism showed delayed pubertal onset with increased GnIH expression and reduced pituitary-gonadal activity...
April 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28428227/mechanisms-in-endocrinology-the-multiple-facets-of-gh-lessons-from-lifetime-untreated-isolated-gh-deficiency-due-to-ghrh-receptor-mutation
#5
Manuel Aguiar-Oliveira, Anita Ho Souza, Carla R Oliveira, Viviane C Campos, Luiz A Oliveira-Neto, Roberto Salvatori
Twenty years ago, we described a kindred of 105 individuals with isolated GH deficiency (IGHD) in Itabaianinha County, in Brazilian northeast, due to a homozygous mutation in the GH-releasing hormone receptor gene. These subjects exhibit markedly reduced GH responsiveness to stimulatory tests, and anterior pituitary hypoplasia. Serum concentrations of IGF-I, IGF binding protein type 3, and the acid-labile subunit are markedly reduced, with a lesser reduction of IGF-II. The most striking physical findings of these IGHD individuals are the proportionate short stature, doll facies, high-pitched voice, and visceral obesity with reduced fat free mass...
April 20, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28401948/development-and-validation-of-a-method-for-precise-dating-of-female-puberty-in-laboratory-rodents-the-puberty-ovarian-maturation-score-pub-score
#6
Francisco Gaytan, Concepción Morales, Silvia Leon, Violeta Heras, Alexia Barroso, Maria S Avendaño, Maria J Vazquez, Juan M Castellano, Juan Roa, Manuel Tena-Sempere
Puberty is a key developmental event whose primary regulatory mechanisms remain poorly understood. Precise dating of puberty is crucial for experimental (preclinical) studies on its complex neuroendocrine controlling networks. In female laboratory rodents, external signs of puberty, such as vaginal opening (VO) and epithelial cell cornification (i.e., first vaginal estrus, FE), are indirectly related to the maturational state of the ovary and first ovulation, which is the unequivocal marker of puberty. Whereas in rats, VO and FE are almost simultaneous with the first ovulation, these events are not so closely associated in mice...
April 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28359061/intrafamilial-phenotypic-variability-and-consequences-of-non-compliance-with-treatment-in-congenital-adrenal-hyperplasia-and-congenital-hypothyroidism-within-a-single-family%C3%A2
#7
Nicola Improda, Caroline Ponmani, Nadia Schoenmakers, Senthil Senniappan, Abigail Atterbury, Angela Barnicoat, Krishna Chatterjee, Mehul T Dattani
BACKGROUND: Coexistence of congenital adrenal hyperplasia (CAH) and congenital hypothyroidism (CH) due to TG mutation in the same non-consanguineous family is rare. CASE SERIES: We report 4 siblings born to unrelated parents, the father being an asymptomatic carrier of homozygous p.V281L and heterozygous p.I172N CYP21A2 mutations. Sibling 1 had salt-wasting CAH (CYP21A2 genotype Intron 2 splice/p.I172N and p.V281L). She also had CH (TG genotype p.R296/ p.T1416Rfs*30) and learning difficulties...
March 30, 2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28357399/loss-of-pi3k-p110%C3%AE-in-the-adipose-tissue-results-in-infertility-and-delayed-puberty-onset-in-male-mice
#8
Victoria L Boughton Nelson, Ariel L Negrón, Inefta Reid, Justin A Thomas, Leon Yang, Richard Z Lin, Maricedes Acosta-Martínez
Deletion of PI3K catalytic subunit p110α in adipose tissue (aP2-Cre/p110α(flx/flx), α-/- hereafter) results in increased adiposity, glucose intolerance, and liver steatosis. Because this endocrine organ releases hormones like leptin, which are important in reproductive physiology, we investigated the reproductive phenotype of α-/- males. Compared to controls, α-/- males displayed delayed onset of puberty accompanied by a reduction in plasma LH levels and testicular weight. At postnatal day 30, α-/- mice exhibited normal body weight but elevated fasted plasma leptin levels...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28347601/scoliosis-in-rett-syndrome-progression-comorbidities-and-predictors
#9
John T Killian, Jane B Lane, Hye-Seung Lee, Steve A Skinner, Walter E Kaufmann, Daniel G Glaze, Jeffrey L Neul, Alan K Percy
BACKGROUND: Scoliosis is prominent in Rett syndrome (RTT). Following the prior report from the US Natural History Study, the onset and progression of severe scoliosis (≥40° Cobb angle) and surgery were examined regarding functional capabilities and specific genotypes, addressing the hypothesis that abnormal muscle tone, poor oral feeding, puberty, and delays or absence of sitting balance and ambulation may be responsible for greater risk in RTT. METHODS: The multicenter RTT Natural History Study gathered longitudinal data for classic RTT, including mutation type, scoliosis, muscle tone, sitting, ambulation, hand function, and feeding...
February 7, 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28328138/homozygous-mutation-in-ptrh2-gene-causes-progressive-sensorineural-deafness-and-peripheral-neuropathy
#10
Rajech Sharkia, Stavit A Shalev, Abdelnaser Zalan, Milit Marom-David, Nathan Watemberg, Jill E Urquhart, Sarah B Daly, Sanjeev S Bhaskar, Simon G Williams, William G Newman, Ronen Spiegel, Abdussalam Azem, Orly Elpeleg, Muhammad Mahajnah
PTRH2 is an evolutionarily highly conserved mitochondrial protein that belongs to a family of peptidyl-tRNA hydrolases. Recently, patients from two consanguineous families with mutations in the PTRH2 gene were reported. Global developmental delay associated with microcephaly, growth retardation, progressive ataxia, distal muscle weakness with ankle contractures, demyelinating sensorimotor neuropathy, and sensorineural hearing loss were present in all patients, while facial dysmorphism with widely spaced eyes, exotropia, thin upper lip, proximally placed thumbs, and deformities of the fingers and toes were present in some individuals...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28326570/reproductive-disorders-in-female-rats-after-prenatal-exposure-to-betamethasone
#11
Cibele S Borges, Tainá L Pacheco, Marina T Guerra, Aline L Barros, Patricia V Silva, Gabriela Missassi, Katiussia Pinho da Silva, Janete A Anselmo-Franci, André S Pupo, Wilma De G Kempinas
Betamethasone is the drug of choice for antenatal treatment, promoting fetal lung maturation and decreasing mortality. Previous studies in rats reported male programming and alteration in sperm parameters and sexual behavior following intrauterine betamethasone exposure. The impact on the female reproductive development is not known. In this study, rat female offspring was assessed for sexual development, morphophysiology of the reproductive tract and fertility after maternal exposure to 0.1 mg kg(-1) of betamethasone or vehicle on gestational days 12, 13, 18 and 19...
March 21, 2017: Journal of Applied Toxicology: JAT
https://www.readbyqxmd.com/read/28290112/protecting-bone-health-in-pediatric-rheumatic-diseases-pharmacological-considerations
#12
REVIEW
Yujuan Zhang, Diana Milojevic
Bone health in children with rheumatic conditions may be compromised due to several factors related to the inflammatory disease state, delayed puberty, altered life style, including decreased physical activities, sun avoidance, suboptimal calcium and vitamin D intake, and medical treatments, mainly glucocorticoids and possibly some disease-modifying anti-rheumatic drugs. Low bone density or even fragility fractures could be asymptomatic; therefore, children with diseases of high inflammatory load, such as systemic onset juvenile idiopathic arthritis, juvenile dermatomyositis, systemic lupus erythematosus, and those requiring chronic glucocorticoids may benefit from routine screening of bone health...
March 13, 2017: Paediatric Drugs
https://www.readbyqxmd.com/read/28275162/leptin-signalling-in-agrp-neurons-modulates-puberty-onset-and-adult-fertility-in-mice
#13
Olivia K Egan, Megan A Inglis, Greg M Anderson
The hormone leptin indirectly communicates metabolic information to brain neurons that control reproduction, using GABAergic circuitry. Agouti-related peptide (AgRP) neurons in the arcuate nucleus are GABAergic, express leptin receptors (LepR) and are known to influence reproduction. This study tested whether leptin actions on AgRP neurons are required and sufficient for puberty onset and subsequent fertility. Firstly, Agrp-Cre and Lepr-flox mice were used to target deletion of LepR to AgRP neurons. AgRP-LepR knockout female mice exhibited mild obesity and adiposity as previously described, as well as a significant delay in the pubertal onset of estrous cycles compared to control animals...
March 8, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28271078/time-correlation-between-mononucleosis-and-initial-symptoms-of-ms
#14
John Endriz, Peggy P Ho, Lawrence Steinman
OBJECTIVE: To determine the average age of MS onset vs the age at which Epstein-Barr infection has previously occurred and stratify this analysis by sex and the blood level of Epstein-Barr nuclear antigen 1 (EBNA1) antibody. METHODS: Using infectious mononucleosis (IM) as a temporal marker in data from the Swedish epidemiologic investigation of MS, 259 adult IM/MS cases were identified and then augmented to account for "missing" childhood data so that the average age of MS onset could be determined for cases binned by age of IM (as stratified by sex and EBNA1 titer level)...
May 2017: Neurology® Neuroimmunology & Neuroinflammation
https://www.readbyqxmd.com/read/28261833/diagnostic-utility-of-testosterone-priming-prior-to-dynamic-tests-to-differentiate-constitutional-delay-in-puberty-from-isolated-hypogonadotropic-hypogonadism
#15
Suja P Sukumar, Anil Bhansali, Naresh Sachdeva, Chirag Kamal Ahuja, Ujjwal Gorsi, Kush Dev Singh Jarial, Rama Walia
CONTEXT: Differentiation between constitutional delay in puberty (CDP) and isolated hypogonadotropic hypogonadism (IHH) during adolescence is a great clinical challenge, and the available diagnostic tests are of limited value. OBJECTIVE: To study the effect of withdrawal of short-term, low-dose testosterone therapy (testosterone priming) on the discriminatory power of dynamic tests for hypothalamo-pituitary-testicular axis to differentiate CDP from IHH. DESIGN: A prospective study (n = 30) consisting of 20 boys with delayed puberty (group A) and 10 patients with IHH (group B)...
March 5, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28249955/clinical-and-biochemical-characteristics-and-bone-mineral-density-of-homozygous-compound-heterozygous-and-heterozygous-carriers-of-three-novel-igfals-mutations
#16
Emregül Işık, Belma Haliloglu, Jaap van Doorn, Hüseyin Demirbilek, Sitha A Scheltinga, Monique Losekoot, Jan M Wit
OBJECTIVE: Acid-labile subunit (ALS) deficiency (ACLSD), caused by homozygous or compound heterozygous IGFALS mutations, is associated with moderate short stature, delayed puberty, low serum IGF-I and ALS and extremely low serum IGFBP-3. Its effect on birth weight, head circumference, bone mineral density (BMD), serum IGF-II and IGFBP-2 is uncertain, as well as the phenotype of heterozygous carriers of IGFALS mutations (partial ACLSD). DESIGN: From all available members of five Turkish families, carrying three mutations in exon 2 of IGFALS (c...
June 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28240757/-anti-m%C3%A3-llerian-hormone-a-brief-review-of-the-literature
#17
REVIEW
G Ozzola
BACKGROUND: Anti-Müllerian hormone (AMH) is a dimeric glycoprotein, which was originally identified because of its role in male sexual differentiation. In fact, AMH is expressed by the Sertoli cellsof the foetal testes and induces the regression of the Müllerian ducts. In the absence of AMH, the Müllerian ducts evolve in the uterus, fallopian tubes and in the upper part of the vagina. In women AMH is produced by granulose cells, pre-antral and antral follicles and its major physiological role in the ovaries seems to be limited to inhibiting the development of the earliest stages of follicular development...
January 2017: La Clinica Terapeutica
https://www.readbyqxmd.com/read/28231067/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
#18
Oleg Sergeyev, Jane S Burns, Paige L Williams, Susan A Korrick, Mary M Lee, Boris Revich, Russ Hauser
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...
March 1, 2017: Reviews on Environmental Health
https://www.readbyqxmd.com/read/28211980/constitutional-bone-impairment-in-noonan-syndrome
#19
Giuseppina Baldassarre, Alessandro Mussa, Diana Carli, Cristina Molinatto, Giovanni Battista Ferrero
Noonan syndrome (NS) is an autosomal dominant trait characterized by genotypic and phenotypic variability. It belongs to the Ras/MAPK pathway disorders collectively named Rasopathies or neurocardiofaciocutaneous syndromes. Phenotype is characterized by short stature, congenital heart defects, facial dysmorphisms, skeletal and ectodermal anomalies, cryptorchidism, mild to moderate developmental delay/learning disability, and tumor predisposition. Short stature and skeletal dysmorphisms are almost constant and several studies hypothesized a role for the RAS pathway in regulating bone metabolism...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211649/insufficient-sleep-in-adolescents-causes-and-consequences
#20
Judith A Owens, Miriam R Weiss
Insufficient sleep poses an important and complicated set of health risks in the adolescent population. Not only is deficient sleep (defined as both sleep duration inadequate to meet sleep needs and sleep timing misaligned with the body's circadian rhythms) at epidemic levels in this population, but the contributing factors are both complex and numerous and there are a myriad of negative physical and mental health, safety and performance consequences. Causes of inadequate sleep identified in this population include internal biological processes such as the normal shift (delay) in circadian rhythm that occurs in association with puberty and a developmentally-based slowing of the "sleep drive", and external factors including extracurricular activities, excessive homework load, evening use of electronic media, caffeine intake and early school start times...
February 17, 2017: Minerva Pediatrica
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