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https://www.readbyqxmd.com/read/29777468/van-wyk-grumbach-syndrome-a-rare-consequence-of-hypothyroidism
#1
Pavan Reddy, Kritika Tiwari, Abhishek Kulkarni, Ketan Parikh, Raju Khubchandani
Long standing hypothyroidism presenting as an ovarian mass has been well described in literature as the Van Wyk Grumbach syndrome (hypothyroidism, isosexual precocious puberty and ovarian mass). Here, authors report this entity in a 11 y 7 mo old girl child who was referred to a surgeon in view of intestinal obstruction along with a multiloculated ovarian cyst. On evaluation, she was found to have raised serum creatinine, short stature, delayed bone age and pituitary enlargement. She was diagnosed with autoimmune thyroiditis and was started on replacement therapy with thyroxine, after which the ovarian cysts regressed...
May 19, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29773976/facing-the-challenges-of-neuropeptide-gene-knockouts-why-do-they-not-inhibit-reproduction-in-adult-teleost-fish
#2
REVIEW
Vance L Trudeau
Genetic manipulation of teleost endocrine systems started with transgenic overexpression of pituitary growth hormone. Such strategies enhance growth and reduce fertility, but the fish still breed. Genome editing using transcription activator-like effector nuclease in zebrafish and medaka has established the role of follicle stimulating hormone for gonadal development and luteinizing hormone for ovulation. Attempts to genetically manipulate the hypophysiotropic neuropeptidergic systems have been less successful...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29771761/genetics-of-pubertal-timing
#3
Jia Zhu, Temitope O Kusa, Yee-Ming Chan
PURPOSE OF REVIEW: To summarize advances in the genetics underlying variation in normal pubertal timing, precocious puberty, and delayed puberty, and to discuss mechanisms by which genes may regulate pubertal timing. RECENT FINDINGS: Genome-wide association studies have identified hundreds of loci that affect pubertal timing in the general population in both sexes and across ethnic groups. Single genes have been implicated in both precocious and delayed puberty...
May 15, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29760811/global-dna-methylation-changes-spanning-puberty-are-near-predicted-estrogen-responsive-genes-and-enriched-for-genes-involved-in-endocrine-and-immune-processes
#4
Emma E Thompson, Jessie Nicodemus-Johnson, Kyung Won Kim, James E Gern, Daniel J Jackson, Robert F Lemanske, Carole Ober
Background: The changes that occur during puberty have been implicated in susceptibility to a wide range of diseases later in life, many of which are characterized by sex-specific differences in prevalence. Both genetic and environmental factors have been associated with the onset or delay of puberty, and recent evidence has suggested a role for epigenetic changes in the initiation of puberty as well. Objective: To identify global DNA methylation changes that arise across the window of puberty in girls and boys...
2018: Clinical Epigenetics
https://www.readbyqxmd.com/read/29755708/growth-and-endocrine-function-in-tunisian-thalassemia-major-patients
#5
Naouel Guirat Dhouib, Monia Ben Khaled, Monia Ouederni, Habib Besbes, Ridha Kouki, Fethi Mellouli, Mohamed Bejaoui
β-thalassemia major (β-TM) is among the most common hereditary disorders imposing high expenses on health-care system worldwide. The patient's survival is dependent on lifetime blood transfusion which leads to iron overload and its toxicity in various organs including endocrine glands. This article provides an overview of endocrine disorders in beta-TM patients. This single center investigation enrolled 28 β-TM patients (16 males, 12 females) regularly transfused with packed red cell since early years of life...
2018: Mediterranean Journal of Hematology and Infectious Diseases
https://www.readbyqxmd.com/read/29742817/effects-of-thyroid-dysfunction-on-reproductive-hormones-in-female-rats
#6
Juan Liu, Meng Guo, Xusong Hu, Xuechun Weng, Ye Tian, Kaili Xu, Dai Heng, Wenbo Liu, Yu Ding, Yanzhou Yang, Cheng Zhang
Thyroid hormones (THs) play a critical role in the development of ovarian cells. Although the effects of THs on female reproduction are of great interest, the mechanism remains unclear. We investigated the effects of TH dysregulation on reproductive hormones in rats. Propylthiouracil (PTU) and L-thyroxine were administered to rats to induce hypo- and hyper-thyroidism, respectively, and the reproductive hormone profiles were analyzed by radioimmunoassay. Ovarian histology was evaluated with H&E staining, and gene protein level or mRNA content was analyzed by western blotting or RT-PCR...
May 10, 2018: Chinese Journal of Physiology
https://www.readbyqxmd.com/read/29740861/zinc-responsive-exfoliative-dermatitis-in-a-17-year-old-girl-with-delayed-puberty
#7
Z Zhou, T H Liu, Z K Zhang
No abstract text is available yet for this article.
May 8, 2018: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/29730183/genes-underlying-delayed-puberty
#8
REVIEW
S R Howard
The genetic control of pubertal timing has been a field of active investigation for the last decade, but remains a fascinating and mysterious conundrum. Self-limited delayed puberty (DP), also known as constitutional delay of growth and puberty, represents the extreme end of normal pubertal timing, and is the commonest cause of DP in both boys and girls. Familial self-limited DP has a clear genetic basis. It is a highly heritable condition, which often segregates in an autosomal dominant pattern (with or without complete penetrance) in the majority of families...
May 3, 2018: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/29718535/vigilant-attention-to-threat-sleep-patterns-and-anxiety-in-peripubertal-youth
#9
Emily J Ricketts, Rebecca B Price, Greg J Siegle, Jennifer S Silk, Erika E Forbes, Cecile D Ladouceur, Allison G Harvey, Neal D Ryan, Ronald E Dahl, Dana L McMakin
BACKGROUND: Vigilant attention to threat is commonly observed in anxiety, undergoes developmental changes in early adolescence, and has been proposed to interfere with sleep initiation and maintenance. We present one of the first studies to use objective measures to examine associations between vigilant attention to threat and difficulties initiating and maintaining sleep in an early adolescent anxious sample. We also explore the moderating role of development (age, puberty) and sex. METHODS: Participants were 66 peripubertal youth (ages 9-14) with a primary anxiety disorder and 24 healthy control subjects...
May 2, 2018: Journal of Child Psychology and Psychiatry, and Allied Disciplines
https://www.readbyqxmd.com/read/29706935/neonatal-overnutrition-increases-testicular-size-and-expression-of-luteinizing-hormone-%C3%AE-subunit-in-peripubertal-male-rats
#10
Pilar Argente-Arizón, David Castro-González, Francisca Díaz, María J Fernández-Gómez, Miguel A Sánchez-Garrido, Manuel Tena-Sempere, Jesús Argente, Julie A Chowen
Proper nutrition is important for growth and development. Maturation of the reproductive axis and the timing of pubertal onset can be delayed when insufficient nutrition is available, or possibly advanced with nutritional abundance. The childhood obesity epidemic has been linked to a secular trend in advanced puberty in some populations. The increase in circulating leptin that occurs in association with obesity has been suggested to act as a signal that an adequate nutritional status exists for puberty to occur, allowing activation of central mechanisms...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29701828/sex-bias-of-the-birth-litter-affects-surge-but-not-tonic-lh-secretion-in-gilts
#11
J Seyfang, R N Kirkwood, A J Tilbrook, C R Ralph
The physiology and behaviour of gilts that develop in a male biased litter can differ from gilts that develop in a female biased litter. We hypothesized that gilts from male biased litters will have a delayed and attenuated LH surge, and reduced LH pulse frequency and amplitude compared to gilts from female biased litters. Gilts were selected at birth from male biased (> 60 % males n = 10) or female biased (> 60 % females n = 9) litters. From 18 weeks of age, detection of puberty using daily boar contact began and their subsequent estrous periods were synchronized with oral progestogen (altrenogest)...
April 26, 2018: Journal of Animal Science
https://www.readbyqxmd.com/read/29694969/clinical-features-of-hereditary-angioedema-in-korean-patients-a-nationwide-multicenter-study
#12
Jae-Woo Jung, Dong In Suh, Hye Jung Park, Sujeong Kim, Hyouk Soo Kwon, Min Suk Yang, Chan Sun Park, Joo-Hee Kim, Sae-Hoon Kim, Yong Won Lee, Gyu Young Hur, Young-Min Ye, Yong Eun Kwon, Hye-Kyung Park, Cheol Woo Kim, Young-Il Koh, Jung Wong Park, Jong-Myung Lee, Kyung-Up Min, Paige Wickner, Hye-Ryun Kang
BACKGROUND: Hereditary angioedema (HAE) is a genetically heterogeneous autosomal dominant disorder characterized by recurrent episodes of nonpruritic, nonpitting edema increasing after puberty. It can be fatal due to laryngeal or gastrointestinal (GI) involvement with varied and changing frequency of mortality according to studies published from the Western countries. Epidemiological and clinical data of HAE in Asian countries are sparse. We sought to examine the clinical characteristics of HAE patients in Korea...
April 25, 2018: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/29689132/alcohol-delays-the-onset-of-puberty-in-the-female-rat-by-altering-key-hypothalamic-events
#13
Vinod K Srivastava, Jill K Hiney, William L Dees
BACKGROUND: Because alcohol (ALC) delays signs of pubertal development, we assessed the time course of events associated with the synthesis of critical hypothalamic peptides that regulate secretion of luteinizing hormone-releasing hormone (LHRH), the peptide that drives the pubertal process. METHODS: Immature female rats were administered either lab chow or Bio-Serve isocaloric control or ALC liquid diets from 27 through 33 days of age. On days 28, 29, 31 and 33 animals were killed by decapitation and tissue blocks containing the medial basal hypothalamus (MBH) and the rostral hypothalamic area (RHA) were isolated and stored frozen until assessed by Western blot analysis...
April 24, 2018: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/29673697/adrenocortical-development-lessons-from-mouse-models
#14
Typhanie Dumontet, Isabelle Sahut-Barnola, Amandine Septier, Nathanaëlle Montanier, Ingrid Plotton, Florence Roucher-Boulez, Véronique Ducros, Anne-Marie Lefrançois-Martinez, Jean-Christophe Pointud, Mohamad Zubair, Ken-Ichirou Morohashi, David T Breault, Pierre Val, Antoine Martinez
The adrenocortical gland undergoes structural and functional remodelling in the fetal and postnatal periods. After birth, the fetal zone of the gland undergoes rapid involution in favor of the definitive cortex, which reaches maturity with the emergence of the zona reticularis(zR) at the adrenarche. The mechanisms underlying the adrenarche, the process leading to pre-puberty elevation of plasma androgens in higher primates, remain unknown, largely due to lack of any experimental model. By following up fetal and definitive cortex cell lines in mice, we showed that activation of protein kinase A (PKA) signaling mainly impacts the adult cortex by stimulating centripetal regeneration, with differentiation and then conversion of the zona fasciculata into a functional zR...
April 16, 2018: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29669934/divergent-responses-to-kisspeptin-in-children-with-delayed-puberty
#15
Yee-Ming Chan, Margaret F Lippincott, Temitope O Kusa, Stephanie B Seminara
BACKGROUND: The neuropeptide kisspeptin stimulates luteinizing hormone (LH) secretion in healthy adults but not in adults with idiopathic hypogonadotropic hypogonadism. We hypothesized that, in children presenting with delayed or stalled puberty, kisspeptin would elicit LH secretion in those children found on detailed nighttime neuroendocrine profiling to have evidence of emerging reproductive endocrine function. METHODS: Eleven boys and four girls were admitted overnight to assess LH secretion at baseline, after a single intravenous bolus of kisspeptin, and after a single intravenous bolus of gonadotropin-releasing hormone (GnRH)...
April 19, 2018: JCI Insight
https://www.readbyqxmd.com/read/29669803/growth-hormone-in-combination-with-leuprorelin-in-pubertal-children-with-idiopathic-short-stature
#16
Imane Benabbad, Myriam Rosilio, Maithe Tauber, Emmanuel Paris, Anne Fjellestad-Paulsen, Lovisa Berggren, Hiren Patel, Jean-Claude Carel
OBJECTIVE: There is a scarcity of data from randomised controlled trials on the association of growth hormone (GH) with gonadotrophin-releasing hormone (GnRH) agonists in idiopathic short stature (ISS), although this off-label use is common. We aimed to test whether delaying pubertal progression could increase near-adult height (NAH) in GH-treated patients with ISS. METHODS: Patients with ISS at puberty onset were randomised to GH with leuprorelin (combination, n=46) or GH alone (n=45)...
April 18, 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29664655/short-term-assessment-of-hsct-effects-on-the-hypothalamus-pituitary-axis-in-pediatric-thalassemic-patients
#17
Amir Ali Hamidieh, Fariba Mohseni, Maryam Behfar, Zohreh Hamidi, Kamran Alimoghaddam, Mohamad Pajouhi, Bagher Larijani, Mohammad-Reza Mohajeri-Tehrani, Ardeshir Ghavamzadeh
BACKGROUND: Beta thalassemia major (BTM) and its treatment by hematopoietic stem cell transplantation (HSCT) may have deleterious effects on the endocrine systems. We assessed endocrine complications of HSCT in pediatric patients for 3 months. METHODS: In 20 (6 female) pediatric major thalassemic patients (mean age of 10.8 ± 3.9 years old), prolactin, luteinizing hormone (LH), follicle-stimulating hormone (FSH), T4, T3, thyroid-stimulating hormone (TSH), IGF-1, testosterone (in males) or estradiol (in females) were measured as a batch at the Endocrinology and Metabolism Research Center (EMRC) of Tehran University of Medical Sciences (TUMS) laboratories before HSCT and 1 and 3 months afterwards...
February 1, 2018: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/29599204/late-effects-after-hematopoietic-stem-cell-transplantation-for-beta-thalassemia-major-the-french-national-experience
#18
Ilhem Rahal, Claire Galambrun, Yves Bertrand, Nathalie Garnier, Catherine Paillard, Pierre Frange, Corinne Pondarré, Jean Hugues Dalle, Regis Peffault de Latour, Mauricette Michallet, Dominique Steschenko, Despina Moshous, Patrick Lutz, Jean Louis Stephan, Pierre Simon Rohrlich, Ibrahim Yakoub-Agha, Francoise Bernaudin, Christophe Piguet, Nathalie Aladjidi, Catherine Badens, Claire Berger, Gérard Socié, Cécile Dumesnil, Marie Pierre Castex, Marilyne Poirée, Anne Lambilliotte, Caroline Thomas, Pauline Simon, Pascal Auquier, Gerard Michel, Anderson Loundou, Imane Agouti, Isabelle Thuret
In this retrospective study, we evaluate long-term complications in nearly all β-thalassemia-major patients who successfully received, in France, allogeneic hematopoietic stem cell transplantation. 99 patients were analysed with a median age of 5.9 years at transplantation. The median duration of clinical follow-up was 12 years. All conditioning regimen were myeloablative, most often based on busulfan combined with cyclophosphamide and more than 90% of patients underwent a transplant from a matched sibling donor...
March 29, 2018: Haematologica
https://www.readbyqxmd.com/read/29595516/a-rare-cause-of-congenital-adrenal-hyperplasia-clinical-and-genetic-findings-and-follow-up-characteristics-of-six-patients-with-17-hydroxylase-deficiency-and-two-novel-mutations
#19
Aslı Derya Kardelen, Güven Toksoy, Firdevs Baş, Zehra Yavaş Abalı, Genco Gençay, Şükran Poyrazoğlu, Rüveyde Bundak, Umut Altunoğlu, Şahin Avcı, Adam Najaflı, Oya Uyguner, Birsen Karaman, Seher Başaran, Feyza Darendeliler
BACKGROUND: 17-α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of ambiguous genitalia and delayed pu-berty. The disease is associated with bi-allelic mutations in the CYP17A1 gene located on chromosome 10q24.3. We aimed to present clinical and genetic findings and follow-up and treatment of 17-OHD patients. PATIENTS AND METHODS: We evaluated six patients with 17OHD from five families at presentation and at follow up...
March 29, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29584616/phenotypic-presentation-of-adolescents-with-overt-primary-hypothyroidism
#20
Nandini Devru, Pramila Dharmshaktu, Gaurav Kumar, Deep Dutta, Bindu Kulshreshtha
BACKGROUND: The phenotypic presentation of overt hypothyroidism during adolescence is less well characterized. The aim of the study was to study the phenotypic presentation of patients with overt hypothyroidism presenting during adolescence (age 9-18 years). METHODS: Records of adolescent patients with overt hypothyroidism (thyroid stimulating hormone [TSH]>10 mIU/L) were retrospectively analyzed for presenting complaints, height and pubertal status. RESULTS: A total of 67 patients (40 females and 37 males, average age 13...
March 28, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
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