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https://www.readbyqxmd.com/read/28328138/homozygous-mutation-in-ptrh2-gene-causes-progressive-sensorineural-deafness-and-peripheral-neuropathy
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
Emregül Işık, Belma Haliloglu, Jaap Van Doorn, Huseyin 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. The 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 novel mutations in exon 2 of IGFALS (c...
March 1, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28240757/-anti-m%C3%A3-llerian-hormone-a-brief-review-of-the-literature
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/28209183/variants-in-congenital-hypogonadotrophic-hypogonadism-genes-identified-in-an-indonesian-cohort-of-46-xy-under-virilised-boys
#12
Katie L Ayers, Aurore Bouty, Gorjana Robevska, Jocelyn A van den Bergen, Achmad Zulfa Juniarto, Nurin Aisyiyah Listyasari, Andrew H Sinclair, Sultana M H Faradz
BACKGROUND: Congenital hypogonadotrophic hypogonadism (CHH) and Kallmann syndrome (KS) are caused by disruption to the hypothalamic-pituitary-gonadal (H-P-G) axis. In particular, reduced production, secretion or action of gonadotrophin-releasing hormone (GnRH) is often responsible. Various genes, many of which play a role in the development and function of the GnRH neurons, have been implicated in these disorders. Clinically, CHH and KS are heterogeneous; however, in 46,XY patients, they can be characterised by under-virilisation phenotypes such as cryptorchidism and micropenis or delayed puberty...
February 16, 2017: Human Genomics
https://www.readbyqxmd.com/read/28182652/nakalanga-syndrome-clinical-characteristics-potential-causes-and-its-relationship-with-recently-described-nodding-syndrome
#13
REVIEW
Kathrin Föger, Gina Gora-Stahlberg, James Sejvar, Emilio Ovuga, Louise Jilek-Aall, Erich Schmutzhard, Christoph Kaiser, Andrea S Winkler
Nakalanga syndrome is a condition that was described in Uganda and various other African countries decades ago. Its features include growth retardation, physical deformities, endocrine dysfunction, mental impairment, and epilepsy, amongst others. Its cause remains obscure. Nodding syndrome is a neurological disorder with some features in common with Nakalanga syndrome, which has been described mainly in Uganda, South Sudan, and Tanzania. It has been considered an encephalopathy affecting children who, besides head nodding attacks, can also present with stunted growth, delayed puberty, and mental impairment, amongst other symptoms...
February 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28173651/-rapidly-progressive-puberty-in-a-patient-with-mosaic-turner-syndrome-a-case-report-and-literature-review
#14
Y Liang, H Wei, X Yu, W Huang, X P Luo
Objective: To explore the clinical characteristics of diagnosis and treatment in patients with Turner syndrome and rapidly progressive puberty. Method: A rare case of rapidly progressive puberty in Turner syndrome with a mosaic karyotype of 45, X/46, X, del(X)(p21)(80%/20%)was diagnosed at Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology in January. 2015. Clinical characteristics and the related literature were reviewed. Original papers on precocious puberty or rapidly progressive puberty in Turner syndrome, published until Apr...
February 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28160246/hypogonadotropic-hypogonadism-in-males-with-glycogen-storage-disease-type-1
#15
Evelyn M Wong, Anna Lehman, Philip Acott, Jane Gillis, Daniel L Metzger, Sandra Sirrs
BACKGROUND: Glycogen storage disease type 1 is an autosomal recessive disorder with an incidence of 1 in 100,000. Long-term complications include chronic blood glucose lability, lactic academia, short stature, osteoporosis, delayed puberty, gout, progressive renal insufficiency, systemic or pulmonary hypertension, hepatic adenomas at risk for malignant transformation, anemia, vitamin D deficiency, hyperuricemic nephrocalcinosis, inflammatory bowel syndrome (type 1b), hypertriglyceridemia, and irregular menstrual cycles...
February 4, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28141708/an-8-year-old-biological-female-who-identifies-herself-as-a-boy-perspectives-in-primary-care-and-from-a-parent
#16
Leah Kern, Penn Edmonds, Ellen C Perrin, Martin T Stein
An 8-year 8-month-old biological female who self-identifies as a boy, Ricardo is brought by his mother for a well-child check to his new pediatrician. Ricardo and his mother report that he is doing well, but have concerns about the upcoming changes associated with puberty. Ricardo states that he is particularly afraid of developing breasts. His mother asks about obtaining a referral to a specialist who can provide "hormone therapy" to delay puberty.Ricardo was adopted from Costa Rica at the age of 2 as a healthy girl named "Angela...
February 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28130750/pegylated-interferon-%C3%AE-ribavirin-therapy-enhances-bone-mineral-density-in-children-with-chronic-genotype-4-hcv-infection
#17
Ahmed Megahed, Nanees Salem, Abeer Fathy, Tarik Barakat, Mona Abd El Latif Alsayed, Suzy Abd El Mabood, Khaled R Zalata, Ahmed F Abdalla
BACKGROUND: The impact of chronic hepatitis C (CHC) on bone mineral density (BMD) has been well studied in adults with a relative paucity of data in children, especially concerning effect of treatment with pegylated interferon (PEG-IFN) plus ribavirin (RV). In the current work, we assessed prospectively changes in BMD in children with CHC before, during, and after treatment. METHODS: Forty-six consecutive children with noncirrhotic genotype 4 CHC were subjected to dual-energy X-ray absorptiometry at baseline, 24 weeks, 48 weeks of therapy and 24 weeks after treatment...
January 27, 2017: World Journal of Pediatrics: WJP
https://www.readbyqxmd.com/read/28096608/effect-of-aegle-marmelos-and-murraya-koenigii-in-treatment-of-delayed-pubertal-buffaloes-heifers
#18
Mohan M Baitule, A P Gawande, Umesh Kumar, S K Sahatpure, Manoj S Patil, Mansi M Baitule
AIM: This study aims to study the estrus induction, ovulation, and conception rate of delayed puberty in buffaloes heifers by feeding a herbal plants Aegle marmelos (bael/bili/bhel leaf) and Murraya koenigii (Curry leaf). MATERIALS AND METHODS: Totally, 24 buffalo heifers with delayed puberty were selected for the present study and divided randomly in four equal groups (n=6). Before experiment, all animals were dewormed with albendazole at 10 mg/kg body weight to prevent them from the stress of parasitism...
December 2016: Veterinary World
https://www.readbyqxmd.com/read/28074248/pregnancy-associated-osteoporosis-a-case-control-study
#19
P Hadji, J Boekhoff, M Hahn, L Hellmeyer, O Hars, I Kyvernitakis
The etiology and underlying mechanisms of pregnancy-associated osteoporosis (PAO) are still unknown, since no systematic analyses exist. Our results indicate that PAO is a heterogeneous, rare but severe disease including a substantial number of fractures with a significant delay from first symptom to diagnose. INTRODUCTION: Pregnancy-associated osteoporosis (PAO) is a rare but severe type of premenopausal osteoporosis. Most common symptom includes acute lower back pain due to vertebral fracture predominantly occurring in the last trimester of pregnancy or immediately postpartum...
January 10, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28065179/maternal-fish-oil-supplementation-during-lactation-is-associated-with-reduced-height-at-13-years-of-age-and-higher-blood-pressure-in-boys-only
#20
L Lauritzen, S E Eriksen, M F Hjorth, M S Nielsen, S F Olsen, K D Stark, K F Michaelsen, C T Damsgaard
Dietary long-chain n-3 PUFA (n-3 LCPUFA) in infancy may have long-term effects on lifestyle disease risk. The present follow-up study investigated whether maternal fish oil (FO) supplementation during lactation affected growth and blood pressure in adolescents and whether the effects differed between boys and girls. Mother-infant pairs (n 103) completed a randomised controlled trial with FO (1·5 g/d n-3 LCPUFA) or olive oil (OO) supplements during the first 4 months of lactation; forty-seven mother-infant pairs with high fish intake were followed-up for 4 months as the reference group...
December 2016: British Journal of Nutrition
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