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https://www.readbyqxmd.com/read/28644353/extraintestinal-manifestations-of-celiac-disease-effectiveness-of-the-gluten-free-diet
#1
Hilary Jericho, Naire Sansotta, Stefano Guandalini
OBJECTIVE: The aim of the study was to evaluate the effectiveness of the gluten-free diet (GFD) on extraintestinal symptoms in pediatric and adult celiac populations at the University of Chicago. METHODS: We conducted a retrospective chart review of the University of Chicago Celiac Center clinic charts from January 2002 to October 2014. Demographics, serologic testing, intestinal biopsies, and extraintestinal symptoms at presentation, 12, 24, and >24 months were recorded...
July 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28641706/delayed-onset-of-puberty-in-male-offspring-from-bisphenol-a-treated-dams-is-followed-by-the-modulation-of-gene-expression-in-the-hypothalamic-pituitary-testis-axis-in-adulthood
#2
Isabela M Oliveira, Renata M Romano, Patricia de Campos, Monica D Cavallin, Claudio A Oliveira, Marco A Romano
Bisphenol A (BPA) is a synthetic endocrine-disrupting chemical of high prevalence in the environment, which may affect the function of the hypothalamic-pituitary-testis (HPT) axis in adult rats. The aim of the present study was to evaluate whether exposure to BPA during hypothalamic sexual differentiation at doses below the reproductive no observable adverse effect level of the World Health Organization causes changes in the regulation of the HPT axis. For this, 0.5 or 5mgkg-1 BPA was injected subcutaneously to the mothers from gestational day 18 to postnatal day (PND) 5...
June 23, 2017: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/28613046/anti-mullerian-hormone-amh-determinations-in-the-pediatric-and-adolescent-endocrine-practice
#3
Amir Weintraub, Talia Eldar-Geva
Anti-Mullerian hormone (AMH), secreted by immature testicular Sertoli-cells, triggers the regression of male fetal Mullerian ducts. During puberty, AMH is downregulated by intratesticular testosterone. In females, AMH is secreted from granulosa cells of immature ovarian follicles from late prenatal life until menopause; serum concentration is 5-20 times lower in females than in males through lifetime. In boys, AMH determination is useful in the clinical setting as a marker of Sertoli cell function. Serum AMH is low in infants with hypogonadotrophic hypogonadism (and increases with FSH treatment), in patients with primary hypogonadism from early postnatal life and in Klinefelter syndrome from midpuberty...
June 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28611948/van-wyk-grumbach-syndrome-with-kocher-debr%C3%A3-s%C3%A3-m%C3%A3-laigne-syndrome-case-report-of-a-rare-association
#4
Syed Mohd Razi, Abhinav Kumar Gupta, Deepak Chand Gupta, Manish Gutch, Keshav Kumar Gupta, Syeda Iqra Usman
BACKGROUND: Van Wyk-Grumbach syndrome (VWGS) is a rare presentation of juvenile hypothyroidism which manifests in females as chronic autoimmune hypothyroidism, isosexual pseudoprecocious puberty, and multicystic ovaries. It uniquely presents with short stature and delayed bone age unlike other causes of precocious puberty. Kocher-Debré-Sémélaigne (KDSS) is a rare presentation of juvenile hypothyroidism manifesting as calf muscle pseudohypertrophy, delayed contraction and relaxation of reflexes, and percussion myxedema...
February 2017: European Thyroid Journal
https://www.readbyqxmd.com/read/28609197/the-glu331del-mutation-in-the-cyp17a1-gene-causes-atypical-congenital-adrenal-hyperplasia-in-a-46-xx-female
#5
Giulia Lanzolla, Giuseppe Vancieri, Silvia Lanciotti, Federica Sangiuolo, Elisa Menegatti, Luca Federici, Costanzo Moretti, Francesco Brancati
17α-Hydroxylase deficiency is an uncommon type of congenital adrenal hyperplasia (CAH) caused by mutations in the CYP17A1 gene encoding both 17α-hydroxylase and 17,20-lyase, essential for sex steroids production. Main clinical features include lack of pubertal development, hypertension, and hypokalemia. We report the first case of a 46,XX female homozygote for the p.Glu331del mutation in the CYP17A1 gene showing an atypical clinical presentation. She was evaluated the first time for primary amenorrhea and delayed puberty in the presence of low levels of androgens, 17β-estradiol, serum cortisol, and high levels of progesterone and gonadotropins...
June 13, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28606230/-a-survey-of-pubertal-development-in-children-born-with-assisted-reproductive-technology
#6
Zi-Yuan Liu, Xin-Li Wang, Tong-Yan Han, Yun-Pu Cui, Xue-Mei Wang, Xiao-Mei Tong, Yi Song, Hai-Jun Wang, Song Li
OBJECTIVE: To investigate the status of pubertal development in children born with assisted reproductive technology (ART). METHODS: A retrospective analysis was performed on the pubertal development data of children born with ART in Peking University Third Hospital from 1994 to 2003 (ART group). The data in the cross-sectional study "Reports on the Physical Fitness and Health Research of Chinese School Students in 2010" were used as a control. The age at menarche and the age at spermarche were compared between the two groups...
June 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28585354/-real-world-pediatric-endocrine-practice-how-much-is-it-influenced-by-physician-s-gender-and-region-of-practice-results-of-an-international-survey
#7
Keren Smuel, Yonatan Yeshayahu
OBJECTIVE: To determine whether hormonal treatments for frequent clinical cases (short stature, delayed and precocious puberty) are prescribed strictly according to clinical guidelines or based on personal tendencies, and whether the decisions correlate with physician's personal demographics (age, sex, and place of practice). METHODS: Cross-sectional survey, with made-up clinical cases, distributed to pediatric endocrinologists using 2 web-based professional forums, Israeli and an international...
June 6, 2017: Journal of Evaluation in Clinical Practice
https://www.readbyqxmd.com/read/28578432/effects-of-childhood-and-adolescence-physical-activity-patterns-on-psychosis-risk-a-general-population-cohort-study
#8
Elina Sormunen, Maiju M Saarinen, Raimo K R Salokangas, Risto Telama, Nina Hutri-Kähönen, Tuija Tammelin, Jorma Viikari, Olli Raitakari, Jarmo Hietala
Schizophrenia spectrum disorders are associated with high morbidity and mortality in somatic diseases. The risk factors of this excess mortality include, e.g., obesity, dietary factors, and physical inactivity, especially after the onset of psychosis, but there are limited early developmental data on these factors in individuals who later develop psychosis. A population-based cohort study "Cardiovascular Risk of Young Finns" started in 1980 with 3596 children and adolescents from six different age groups (3, 6, 9, 12, 15, and 18 years)...
January 13, 2017: NPJ Schizophrenia
https://www.readbyqxmd.com/read/28576131/analysis-of-31-year-old-patient-with-syngap1-gene-defect-points-to-importance-of-variants-in-broader-splice-regions-and-reveals-developmental-trajectory-of-syngap1-associated-phenotype-case-report
#9
Darina Prchalova, Marketa Havlovicova, Katalin Sterbova, Viktor Stranecky, Miroslava Hancarova, Zdenek Sedlacek
BACKGROUND: Whole exome sequencing is a powerful tool for the analysis of genetically heterogeneous conditions. The prioritization of variants identified often focuses on nonsense, frameshift and canonical splice site mutations, and highly deleterious missense variants, although other defects can also play a role. The definition of the phenotype range and course of rare genetic conditions requires long-term clinical follow-up of patients. CASE PRESENTATION: We report an adult female patient with severe intellectual disability, severe speech delay, epilepsy, autistic features, aggressiveness, sleep problems, broad-based clumsy gait and constipation...
June 2, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28574232/a-heritable-microduplication-encompassing-tbl1xr1-causes-a-genomic-sister-disorder-for-the-3q26-32-microdeletion-syndrome
#10
Vera Riehmer, Florian Erger, Peter Herkenrath, Saskia Seland, Miriam Jackels, Alfred Wiater, Raoul Heller, Bodo B Beck, Christian Netzer
Recently, a new syndrome with intellectual disability (ID) and dysmorphic features due to deletions or point mutations within the TBL1XR1 gene located in the chromosomal band 3q26.32 has been described (MRD41, OMIM 616944). One recurrent point mutation in the TBL1XR1 gene has been identified as the cause of Pierpont syndrome (OMIM 602342), a distinct intellectual disability syndrome with plantar lipomatosis. In addition, different de novo point mutations in the TBL1XR1 gene have been found in patients with autism spectrum disorders (ASD) and intellectual disability...
June 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28570923/4-nitrophenol-pnp-inhibits-the-expression-of-estrogen-receptor-%C3%AE-and-disrupts-steroidogenesis-during-the-ovarian-development-in-female-rats
#11
Haolin Zhang, Kazuyoshi Taya, Kentaro Nagaoka, Midori Yoshida, Gen Watanabe
4-nitrophenol (PNP), isolated from diesel exhaust particles, has estrogenic and anti-androgenic activities, and affects the hypothalamus-pituitary-gonad axis in male rats. However, the effect of PNP on the reproduction of the female rats is still unknown. The aim of the study was to investigate the effect of neonatal PNP exposure on the ovarian function of female rats. The neonatal female rats were exposed to PNP (10 mg/kg, subcutaneously injection), the ovary and serum samples were collected at postnatal day (PND) 7, 14 and 21...
May 29, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28562264/adult-consequences-of-self-limited-delayed-puberty
#12
REVIEW
Jia Zhu, Yee-Ming Chan
Delayed puberty is a common condition defined as the lack of sexual maturation by an age ≥2 SD above the population mean. In the absence of an identified underlying cause, the condition is usually self-limited. Although self-limited delayed puberty is largely believed to be a benign developmental variant with no long-term consequences, several studies have suggested that delayed puberty may in fact have both harmful and protective effects on various adult health outcomes. In particular, height and bone mineral density have been shown to be compromised in some studies of adults with a history of delayed puberty...
May 18, 2017: Pediatrics
https://www.readbyqxmd.com/read/28528174/prenatal-exposure-to-di-n-butyl-phthalate-disrupts-the-development-of-adult-leydig-cells-in-male-rats-during-puberty
#13
Xiaomin Chen, Linxi Li, Huitao Li, Hongguo Guan, Yaoyao Dong, Xiaoheng Li, Qiufan Wang, Qingquan Lian, Guoxin Hu, Ren-Shan Ge
Fetal exposure to di-n-butyl phthalate (DBP) causes the adult disease such as lower testosterone production and infertility. However, the mechanism is still unknown. The objective of the present study is to determine how DBP affects the involution of fetal Leydig cells during the neonatal period and how this event causes the delayed development of the adult Leydig cells during puberty. The pregnant Sprague Dawley dams were randomly divided into 3 groups and were gavaged with 0 (corn oil, the vehicle control), 100 or 500mg/kg DBP from gestational day 12 (G12) to G21...
May 17, 2017: Toxicology
https://www.readbyqxmd.com/read/28521848/impacts-of-stocking-density-on-development-and-puberty-attainment-of-replacement-beef-heifers
#14
K M Schubach, R F Cooke, A P Brandão, K D Lippolis, L G T Silva, R S Marques, D W Bohnert
In all, 60 Angus×Hereford heifers were ranked by age and BW (210±2 days and 220±2 kg) on day 0, and assigned to: (a) one of three drylot pens (10×14 m pens; 10 heifers/pen) resulting in a stocking density of 14 m2/heifer (HIDENS; n=3), or (b) one of three pastures (25 ha pastures; 10 heifers/pasture), resulting in a stocking density of 25 000 m2/heifer (LOWDENS; n=3). Pastures were harvested for hay before the beginning of this experiment, and negligible forage was available for grazing to LOWDENS heifers during the experiment (days 0 to 182)...
May 19, 2017: Animal: An International Journal of Animal Bioscience
https://www.readbyqxmd.com/read/28514243/celiac-disease-symptom-resolution-effectiveness-of-the-gluten-free-diet
#15
Naire Sansotta, Stefano Guandalini, Karine Amirikian, Hilary Jericho
OBJECTIVE: To evaluate the efficacy of the gluten free diet (GFD) on gastrointestinal and extra-intestinal symptom resolution and identify predictors for persistence of symptoms in all celiac patients at the University of Chicago. METHODS: We conducted a retrospective chart review from 2002 to 2015. Gastrointestinal (GI) symptoms included: abdominal pain, bloating, constipation, diarrhea, failure to thrive/weight loss, nausea, reflux and vomiting. Extra-intestinal (EI) symptoms included: abnormal liver enzymes, arthralgia/arthritis, dermatitis herpetiformis, alopecia, fatigue, headache, anemia, stomatitis, myalgia, psychiatric disorders, rashes, seizures, neuropathy, short stature, delayed puberty, osteoporosis, and infertility...
May 16, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28513071/juvenile-idiopathic-arthritis-in-multiplex-families-longitudinal-follow-up
#16
Munira Al Marri, Alya Qari, Sulaiman M Al-Mayouf
OBJECTIVE: To describe the physical, social, educational and employment status and clinical outcomes of patients with juvenile idiopathic arthritis (JIA) from multiplex families. METHODS: All familial JIA patients were treated and had regular follow-up between 1990 and 2015 at King Faisal Specialist Hospital and Research Center (KFSH-RC), Riyadh, were included. Demographic data, disease duration, active arthritis and articular and extra-articular damage at last follow-up visit were reviewed...
May 16, 2017: International Journal of Rheumatic Diseases
https://www.readbyqxmd.com/read/28506340/-endocrine-and-metabolic-features-of-female-children-with-prader-willi-syndrome-an-analysis-of-4-cases
#17
Mo-Ling Wu, Juan Li, Yu Ding, Yao Chen, Guo-Ying Chang, Xiu-Min Wang, Jian Wang, Yi-Ping Shen
This article reports the clinical features and endocrine and metabolic features of 4 children with Prader-Willi syndrome (PWS). All the patients were female and aged 6-12 years at diagnosis. All of them had clinical manifestations of obesity, unusual facies, developmental retardation, and intellectual disability. Genetic detection showed that 2 patients had paternal deletion of the 15q11.2-q13 region, one patient had maternal autodiploid in the 15q11.2-q13 region, and one patient had no abnormality in the 15q11...
May 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28502828/premature-ovarian-insufficiency-an-adolescent-series
#18
Kallirroi Chaloutsou, Pantelis Aggelidis, Andreas Pampanos, Eleni Theochari, Lina Michala
STUDY OBJECTIVE: To study the presentation and causes of premature ovarian insufficiency (POI) in adolescents DESIGN: Retrospective notes review SETTING: Tertiary Referral Outpatient clinic for Pediatric and Adolescent Gynecology PARTICIPANTS: Adolescents with POI INTERVENTIONS: Standard POI evaluation MAIN OUTCOME MEASURES: Age and clinical symptoms at presentation, causative factor for POI, if identified. RESULTS: We identified 22 girls with POI, with a mean age of 15...
May 11, 2017: Journal of Pediatric and Adolescent Gynecology
https://www.readbyqxmd.com/read/28501545/betamethasone-causes-intergenerational-reproductive-impairment-in-male-rats
#19
Cibele Dos Santos Borges, Taina Louise Pacheco, Katiussia Pinho da Silva, Fábio Henrique Fernandes, Mary Gregory, André Sampaio Pupo, Daisy Maria F Salvadori, Daniel G Cyr, Wilma De G Kempinas
Prenatal betamethasone (BM) exposure in rats negatively impacts sperm quality and male fertility. Studies have shown that BM can cause multi-generational effects on the pituitary-adrenal-axis of rats. The objective of this study was to assess the reproductive development and fertility of male rats (F2) whose fathers (F1) were exposed to BM (0.1mg/kg) on gestational days 12, 13, 18 and 19. In F2 rats, there was a significant reduction in body weights of the BM-treated group at PND 1 as well as delayed onset of puberty, and decreases in FSH levels, Leydig cell volume, sperm number and motility, seminal vesicle contractility and ejaculated volume...
May 10, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28501319/association-of-pyrethroids-exposure-with-onset-of-puberty-in-chinese-girls
#20
Xiaoqing Ye, Wuye Pan, Yuehao Zhao, Shilin Zhao, Yimin Zhu, Weiping Liu, Jing Liu
Pyrethroids, a class of ubiquitous insecticides, have been considered as endocrine-disrupting chemicals (EDCs). Female animal studies suggested that early-life pyrethroids exposure might delay puberty onset. However, it remains unclear whether this association applies to human populations. A total of 305 girls at the ages of 9-15 years old were recruited in Hangzhou, China in this study. The concentration of the common metabolite of pyrethroids, 3-phenoxybenzoic acid (3-PBA), was analyzed in urine samples to reflect the exposure level of pyrethroids...
August 2017: Environmental Pollution
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