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delayed puberty

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https://www.readbyqxmd.com/read/29335001/different-clinical-presentation-and-management-of-temporal-bone-fibrous-dysplasia-in-children
#1
REVIEW
Józef Mierzwiński, Justyna Kosowska, Justyna Tyra, Karolina Haber, Maria Drela, Dariusz Paczkowski, Paweł Burduk
BACKGROUND: Fibrous dysplasia is a slowly progressive benign fibro-osseous disorder that involves one or multiple bones with a unilateral distribution in most cases. It is a lesion of unknown etiology, uncertain pathogenesis, and diverse histopathology. Temporal bone involvement is the least frequently reported type, especially in children. We reviewed available articles regarding fibrous dysplasia with temporal bone involvement in children and added four patients aged 7 to 17 years who were diagnosed and treated in our institution from 2006 to 2017...
January 15, 2018: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/29323692/delayed-puberty
#2
Alyssa M Dye, Grace B Nelson, Alicia Diaz-Thomas
Delayed puberty is defined as the absence of physical signs of puberty 2 to 2.5 standard deviations above the mean age and affects approximately 2% of adolescents. Causes of delayed puberty are broadly divided into two categories: hypergonadotropic hypogonadism and hypogonadotropic hypogonadism. One exception to this classification system is constitutional delay of growth and puberty, the most common cause of delayed puberty. For the general pediatrician, knowledge of the different causes and initial steps to evaluation is crucial when a patient with delayed puberty presents...
January 1, 2018: Pediatric Annals
https://www.readbyqxmd.com/read/29315373/female-offspring-from-chronic-hyperandrogenemic-dams-exhibit-delayed-puberty-and-impaired-ovarian-reserve
#3
Zhiqiang Wang, Mingjie Shen, Ping Xue, Sara A DiVall, James Segars, Sheng Wu
Female offspring of many species exposed to high doses of androgens in utero experience endocrine dysfunction during adulthood. The phenotype of offspring from females with pre-pregnancy hyperandrogenemia and impaired ovulation, however, has not been examined. We developed a mouse model of hyperandrogenemia by implanting a low dose dihydrotestosterone (DHT) pellet 15 days before conception. The serum DHT levels in dams treated with the pellet were 1.7 to 2 fold higher (p<0.005) than levels in dams without DHT...
January 5, 2018: Endocrinology
https://www.readbyqxmd.com/read/29311684/a-severely-short-statured-girl-with-47-xx-%C3%A2-%C3%A2-14-46-xx-upd-14-mat-mosaicism
#4
Kikumi Ushijima, Syuichi Yatsuga, Takako Matsumoto, Akie Nakamura, Maki Fukami, Masayo Kagami
The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities. Maternal uniparental disomy of chromosome 14 (upd(14)mat) presents discernible clinical features such as prenatal and postnatal growth failure, hypotonia, precocious puberty, and obesity. Given the small number of previously reported patients with a combination of trisomy 14 mosaicism and upd(14)mat, the detailed clinical features of these patients remain to be elucidated...
January 9, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29303780/clinical-and-cytogenetic-features-of-516-patients-with-suspected-turner-syndrome-a-single-center-experience
#5
Annelise B Carvalho, Sofia H V Lemos-Marini, Gil Guerra-Junior, Andréa T Maciel-Guerra
BACKGROUND: Clinical suspicion of Turner syndrome (TS) may be challenging. Short stature and absent puberty are not mandatory and the dysmorphic picture is widely variable. The aim of the study was to describe a representative sample of patients with suspected TS in a single center and to verify which set of features may help discriminate those with TS. METHODS: This was a retrospective study of patients with suspected TS evaluated between 1989 and 2012 with the same clinical and cytogenetic protocols...
January 5, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29302059/trithorax-dependent-changes-in-chromatin-landscape-at-enhancer-and-promoter-regions-drive-female-puberty
#6
Carlos A Toro, Hollis Wright, Carlos F Aylwin, Sergio R Ojeda, Alejandro Lomniczi
Polycomb group (PcG) proteins control the timing of puberty by repressing the Kiss1 gene in hypothalamic arcuate nucleus (ARC) neurons. Here we identify two members of the Trithorax group (TrxG) of modifiers, mixed-lineage leukemia 1 (MLL1), and 3 (MLL3), as central components of an activating epigenetic machinery that dynamically counteracts PcG repression. Preceding puberty, MLL1 changes the chromatin configuration at the promoters of Kiss1 and Tac3, two genes required for puberty to occur, from repressive to permissive...
January 4, 2018: Nature Communications
https://www.readbyqxmd.com/read/29300862/reproductive-alterations-in-chronically-exposed-female-mice-to-environmentally-relevant-doses-of-a-mixture-of-phthalates-and-alkylphenols
#7
Daniel Patiño-García, Leonor Cruz-Fernandes, Julio Buñay, Jaime Palomino, Ricardo D Moreno
Endocrine-disrupting chemicals (EDCs) are exogenous compounds that modify hormone biosynthesis, causing adverse effects to human health. Among them, phthalates, and alkylphenols are important due to their wide use in plastics, detergents, personal care products, cosmetics and food packaging. However, their conjoint effects over reproductive female health have not been addressed. The aim of this work was to test the effect of chronically exposed female mice to a mixture of three phthalates [bis (2-ethylhexyl), dibutyl and benzyl butyl] and two alkylphenols [4-nonylphenol and 4-tert-octylphenol], from conception to adulthood at environmentally relevant doses...
December 28, 2017: Endocrinology
https://www.readbyqxmd.com/read/29298845/safety-and-tolerability-of-one-year-intramuscular-testosterone-regime-to-induce-puberty-in-older-men-with-chh
#8
Agnieszka Pazderska, Yaasir Mamoojee, Satish Artham, Margaret Miller, Stephen G Ball, Tim Cheetham, Richard Quinton
We present herein our 20-year experience of pubertal induction in apubertal older (median age 56 years; range 38.4-69.5) men with congenital hypogonadotrophic hypogonadism (n = 7) using a simple fixed-dose and fixed-interval intramuscular testosterone that we originally pioneered in relation to achieving virilisation of natal female transgender men. This regime was effective and well tolerated, resulting in complete virilisation by around 1 year after treatment initiation. No physical or psychological adverse effects were encountered in this group of potentially vulnerable individuals...
January 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29280744/update-on-the-genetics-of-idiopathic-hypogonadotropic-hypogonadism
#9
A Kemal Topaloğlu
Traditionally, idiopathic hypogonadotropic hypogonadism (IHH) is divided into two major categories: Kallmann syndrome (KS) and normosmic IHH (nIHH). To date, inactivating variants in more than 50 genes have been reported to cause IHH. These mutations are estimated to account for up to 50% of all apparently hereditary cases. Identification of further causative gene mutations is expected to be more feasible with the increasing use of whole exome/genome sequencing. Presence of more than one IHH-associated mutant gene in a given patient/pedigree (oligogenic inheritance) is seen in 10-20% of all IHH cases...
December 27, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29240891/primary-ovarian-insufficiency-and-azospermia-in-carriers-of-a-homozygous-psmc3ip-stop-gain-mutation
#10
Abdulmoein Eid Al-Agha, Ihab Abdulhamed Ahmed, Esther Nuebel, Mika Moriwaki, Barry Moore, Katherine A Peacock, Tim Mosbruger, Deborah W Neklason, Lynn B Jorde, Mark Yandell, Corrine K Welt
Context: The etiology of primary ovarian insufficiency (POI) remains unknown in a majority of cases. Objective: We sought to identify genes causing POI. Design: The study was a familial genetic study. Setting: The study was performed in two academic institutions. Patients: We identified a consanguineous Yemeni family in which 4 daughters had POI. A brother had azoospermia. Intervention: DNA was subjected to whole genome sequencing...
December 12, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29238730/interaction-of-pubertal-development-and-metabolic-control-in-adolescents-with-type-1-diabetes-mellitus
#11
M Plamper, B Gohlke, J Woelfle, K Konrad, T Rohrer, S Hofer, W Bonfig, K Fink, R W Holl
Background: In T1DM, delayed pubertal development and reduced final height are associated with inadequate metabolic control. Objective: To assess whether T1DM affects pubertal growth spurt and whether metabolic control during puberty is gender-related. Methods: Using a large multicentre database, longitudinal data from 1294 patients were analysed. Inclusion criteria: complete records of height and HbA1c from the age of seven to 16 years. Exclusion criteria: other significant chronic diseases and medications, T1DM duration less than three months, and initial BMI < 3rd or >97th percentile...
2017: Journal of Diabetes Research
https://www.readbyqxmd.com/read/29228316/identification-of-a-critical-window-for-ganciclovir-induced-disruption-of-testicular-development-in-rats
#12
Katlyn Barp Meyer, Anderson Joel Martino Andrade, Amanda Caroline Venturelli, Diogo Henrique Kita, Dária Louise Barbosa Machado, Rafaela Adams Philipsen, Alluanan Adelson do Nascimento Silva, Isabelle Cantão, Davyson Moreira, Valdemiro Amaro da Silva Junior, Taiza Stumpp, Rosana Nogueira Morais
Ganciclovir (GCV) has been implicated in the development of testicular alterations. Exposure on gestational day (GD) 10 in rats induced permanent effects, including focal reduction or absence of germ cells (Sertoli cell-only tubules). Because the timing of exposure can be critical for testicular effects, we exposed rat dams to 300 mg/kg GCV (three 100mg/kg subcutaneous injections) on GD10, 14 and 19, when germ cells have high rates of migration, proliferation and are mitotically quiescent, respectively. Males exposed to GCV in utero on GD10 and 14 were evaluated for androgenization markers, serum and fecal androgens, and testicular histomorphometry at adulthood...
December 7, 2017: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/29226466/childhood-onset-cluster-headache-observations-from-a-personal-case-series-and-review-of-the-literature
#13
Arens Taga, Gian Camillo Manzoni, Marco Russo, Maria Vittoria Paglia, Paola Torelli
BACKGROUND/OBJECTIVES: Puberty seems to be a turning point in cluster headache (CH) onset. To verify its influence on CH phenotype, we focused on cases with onset ≤13 years. A review of the literature follows. METHOD: We considered CH cases with age-of-onset ≤13 years evaluated at our center between 1975 and 2015; these cases were matched by sex to two consecutive patients with age-of-onset as close as possible (±2 years) to the median age-of-onset of the overall CH population...
December 11, 2017: Headache
https://www.readbyqxmd.com/read/29212950/pi3k%C3%AE-inactivation-in-leptin-receptor-cells-increases-leptin-sensitivity-but-disrupts-growth-and-reproduction
#14
David Garcia-Galiano, Beatriz C Borges, Jose Donato, Susan J Allen, Nicole Bellefontaine, Mengjie Wang, Jean J Zhao, Kenneth M Kozloff, Jennifer W Hill, Carol F Elias
The role of PI3K in leptin physiology has been difficult to determine due to its actions downstream of several metabolic cues, including insulin. Here, we used a series of mouse models to dissociate the roles of specific PI3K catalytic subunits and of insulin receptor (InsR) downstream of leptin signaling. We show that disruption of p110α and p110β subunits in leptin receptor cells (LRΔα+β) produces a lean phenotype associated with increased energy expenditure, locomotor activity, and thermogenesis. LRΔα+β mice have deficient growth and delayed puberty...
December 7, 2017: JCI Insight
https://www.readbyqxmd.com/read/29211946/a-rare-anos1-variant-in-siblings-with-kallmann-syndrome-identified-by-whole-exome-sequencing
#15
D M Lopategui, A J Griswold, H Arora, R I Clavijo, M Tekin, R Ramasamy
Kallmann syndrome is a rare genetic condition causing congenital hypogonadotropic hypogonadism. It presents with delayed puberty, anosmia, and infertility. Here, we set out to identify a causative DNA variant for Kallmann syndrome in two affected brothers of Hispanic ancestry. The male siblings presented with a clinical diagnosis of Kallmann syndrome (anosmia, delayed puberty, azoospermia, and undetectable luteinizing hormone and follicle stimulating hormone levels). Genetic variations were investigated by whole exome sequencing...
December 6, 2017: Andrology
https://www.readbyqxmd.com/read/29182666/gnrh-receptor-gene-mutations-in-adolescents-and-young-adults-presenting-with-signs-of-partial-gonadotropin-deficiency
#16
Johanna Hietamäki, Matti Hero, Elina Holopainen, Johanna Känsäkoski, Kirsi Vaaralahti, Anna-Pauliina Iivonen, Päivi J Miettinen, Taneli Raivio
Biallelic, partial loss-of-function mutations in GNRHR cause a wide spectrum of reproductive phenotypes from constitutional delay of growth and puberty to complete congenital hypogonadotropic hypogonadism. We studied the frequency of GNRHR, FGFR1, TAC3, and TACR3 mutations in nine adolescent and young adult females with clinical cues consistent with partial gonadotropin deficiency (stalled puberty, unexplained secondary amenorrhea), and describe phenotypic features and molecular genetic findings of monozygotic twin brothers with stalled puberty...
2017: PloS One
https://www.readbyqxmd.com/read/29164787/factors-related-to-duration-of-untreated-psychosis-of-first-episode-schizophrenia-spectrum-disorder
#17
Yong Qiu, Leijun Li, Zhaoyu Gan, Jihui Wang, Liangrong Zheng, Jiaoshi Zhao, Nianhong Guan, Qinling Wei
AIM: Duration of untreated psychosis (DUP) is associated with outcome and functioning. It is expected that scientists will find factors that modulate DUP, but thus far, research on this topic has shown inconsistent results. Furthermore, similar studies in China are insufficient. This study aims to explore social and clinical factors for DUP in South China and to learn the influence that family plays on DUP through their awareness of psychosis. METHODS: Participants included 216 patients with first episode schizophrenia spectrum disorder...
November 22, 2017: Early Intervention in Psychiatry
https://www.readbyqxmd.com/read/29161441/contributions-of-function-altering-variants-in-genes-implicated-in-pubertal-timing-and-body-mass-for-self-limited-delayed-puberty
#18
Sasha R Howard, Leonardo Guasti, Ariel Poliandri, Alessia David, Claudia P Cabrera, Michael R Barnes, Karoliina Wehkalampi, Stephen O'Rahilly, Catherine E Aiken, Anthony P Coll, Marcella Ma, Debra Rimmington, Giles S H Yeo, Leo Dunkel
Context: Self-limited delayed puberty (DP) is often associated with delay in physical maturation, but whilst highly heritable the causal genetic factors remain elusive. Genome-wide association studies of the timing of puberty have identified multiple loci for age of menarche (AAM) in females and voice break in males, particularly in pathways controlling energy balance. Objective/Main outcome measures: We aimed to assess the contribution of rare variants in such genes to the phenotype of familial DP...
November 16, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29155850/pre-pubertal-exposure-with-phthalates-and-bisphenol-a-and-pubertal-development
#19
Monika Kasper-Sonnenberg, Jürgen Wittsiepe, Katharina Wald, Holger M Koch, Michael Wilhelm
OBJECTIVE: 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. METHODS: We started with eight- to ten-year-old children in the baseline study and quantified phthalate metabolites and BPA in 472 urine samples (250 boys; 222 girls; mean age: 8...
2017: PloS One
https://www.readbyqxmd.com/read/29144824/17%C3%AE-hydroxylase-deficiency-is-an-underdiagnosed-disease-high-frequency-of-misdiagnoses-in-a-large-cohort-of-brazilian-patients
#20
Rafaela Fontenele, Marivânia Costa-Santos, Claudio E Kater
OBJECTIVE: 17α-Hydroxylase deficiency (P450c17D) is characterized by hypogonadism and mineralocorticoid hypertension. We aimed to estimate the relative incidence and spectrum of preliminary misdiagnoses in Brazilian P450c17D patients. DESIGN: Cross-sectional study. METHODS: We reviewed, updated, and analyzed data of 40 P450c17D patients (21 XY, 19 XX). RESULTS: Complete data were unavailable for two patients. Seven patients were relatives of an index case...
November 16, 2017: Endocrine Practice
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