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Turner syndrome growth hormone

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https://www.readbyqxmd.com/read/30088853/anti-m%C3%A3-llerian-hormone-levels-in-patients-with-turner-syndrome-relation-to-karyotype-spontaneous-puberty-and-replacement-therapy
#1
Rasha T Hamza, Marwa F Mira, Amira I Hamed, Treiz Ezzat, Mahmoud T Sallam
Most girls with Turner syndrome (TS) suffer from incomplete sexual development, premature ovarian failure, and infertility due to abnormal ovarian folliculogenesis. Serum anti-Müllerian hormone (AMH) levels reflect the ovarian reserve in females, even in childhood. Thus, we aimed to assess serum AMH levels in girls with TS and its relation to karyotype, spontaneous puberty, and growth hormone (GH) therapy. Fifty TS were compared to 50 age- and sex-matched controls. All subjects were subjected to history, anthropometric assessment, Tanner pubertal staging and measurement of serum follicle stimulating hormone (FSH), luteinizing hormone (LH), estradiol (E2), and AMH...
August 8, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29969875/delayed-puberty-versus-hypogonadism-a-challenge-for-the-pediatrician
#2
Mauro Bozzola, Elena Bozzola, Chiara Montalbano, Filomena Andreina Stamati, Pietro Ferrara, Alberto Villani
Constitutional delay of growth and puberty (CDGP) is the most common cause of delayed puberty (DP), is mainly found in males, and is characterized by short stature and delayed skeletal maturation. A family history of the subject comprising the timing of puberty in the parents and physical examination may provide clues regarding the cause of DP. Delayed onset of puberty is rarely considered a disease in either sex. In fact, DP usually represents a common normal variant in pubertal timing, with favorable outcomes for final height and future reproductive capacity...
June 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29915563/immunological-profile-and-predisposition-to-autoimmunity-in-girls-with-turner-syndrome
#3
Aneta Monika Gawlik, Elzbieta Berdej-Szczot, Dorota Blat, Renata Klekotka, Tomasz Gawlik, Ewa Blaszczyk, Magdalena Hankus, Ewa Malecka-Tendera
Objective: The risk of autoimmune diseases (AD) in patients with Turner Syndrome (TS) is twice higher than in the general female population and four times higher than in the male population. The causes of the increased incidence of AD in TS are still under discussion. We hypothesized the presence of a specific humoral, cellular, and regulatory T cell (Treg) immunity profile which predisposes to AD, disorders of immunity, and disorders of immune regulation. Methods: The study encompassed 37 girls with TS and with no signs of infection...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29739732/inherited-deletion-of-1q-hyperparathyroidism-and-signs-of-y-chromosomal-influence-in-a-patient-with-turner-syndrome
#4
Alejandro F Siller, Alex Shimony, Marwan Shinawi, Ina Amarillo, Louis P Dehner, Katherine Semenkovich, Ana María Arbeláez
We report a detailed phenotypic, cytogenetic, and molecular characterization of a patient diagnosed prenatally with Turner syndrome (TS). In addition to having typical TS clinical characteristics such as a webbed neck, high arched palate, and coarctation of the aorta, the patient had features less frequently seen in TS, including recurrent parathyroid adenomas, growth along the 75th-90th centiles on the TS height curve despite a minimal treatment with growth hormone, behavioral problems, and evidence of gonadal dysgenesis with testicular-like structures, such as seminiferous tubules lined by Sertoli cells and a contiguous nodule of Leydig cells...
May 9, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29699389/a-synopsis-of-current-practice-in-the-diagnosis-and-management-of-patients-with-turner-syndrome-in-turkey-a-survey-of-18-pediatric-endocrinology-centers
#5
Ahmet Uçar, Ayhan Abacı, Özgür Pirgon, Bumin Dündar, Filiz Tütüncüler, Gönül Çatlı, Ahmet Anık, Aylin Kılınç Uğurlu, Atilla Büyükgebiz
Objective: A comprehensive survey was conducted to evaluate the shortcomings of clinical care in patients with Turner syndrome (TS) in Turkey. Methods: A structured questionnaire prepared by the Turner study group in Turkey, which covered relevant aspects of patient care in TS was sent to 44 pediatric endocrinology centers. Results: Eighteen centers (41%) responded to the questionnaire. In the majority of the centers, diagnostic genetic testing, screening for Y chromosomal material, protocols regarding the timing and posology of growth hormone (GH) and estrogen, thrombophilia screening, fertility information and screening for glucose intolerance, thyroid, and coeliac diseases in patients with TS were in line with the current consensus...
July 31, 2018: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/29691907/investigation-of-maxillofacial-morphology-and-oral-characteristics-with-turner-syndrome-and-early-mixed-dentition
#6
Nozomi Ahiko, Yoshiyuki Baba, Michiko Tsuji, Reiko Horikawa, Keiji Moriyama
Turner syndrome is associated with an X chromosome abnormality in women and is characterized by infantilism, congenital webbed neck, and cubitus valgus. The aim of this study was to determine the maxillofacial morphology and oral characteristics of Japanese girls (mean age, 8.5 years) with Turner syndrome and early mixed dentition. Lateral cephalograms obtained at the first visit were used to analyze maxillofacial morphology. Oral characteristics were identified using orthopantomograms, intraoral photographs, and study casts...
April 25, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29652668/still-too-little-too-late-ten-years-of-growth-hormone-therapy-baseline-data-from-the-nordinet%C3%A2-international-outcome-study
#7
Michel Polak, Daniel Konrad, Birgitte Tønnes Pedersen, Gediminas Puras, Marta Šnajderová
BACKGROUND: We investigated time trends in age, gender, growth hormone (GH) dose and height standard deviation score (SDS) in children with GH deficiency (GHD), born small for gestational age (SGA) or with Turner syndrome (TS) starting GH treatment. METHODS: Data were obtained from children enrolled in the NordiNet® International Outcome Study (IOS) between 2006 and 2015 in the Czech Republic, France, Germany, Serbia and Montenegro (all indications), and Switzerland and the UK (GHD only)...
April 25, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29609449/design-of-the-long-term-observational-cohort-study-with-recombinant-human-growth-hormone-in-korean-children-lg-growth-study
#8
Sochung Chung, Jae-Ho Yoo, Jin Ho Choi, Young-Jun Rhie, Hyun-Wook Chae, Jae Hyun Kim, Il Tae Hwang, Choong Ho Shin, Eun Young Kim, Kee-Hyoung Lee
PURPOSE: Regarding recombinant human growth hormone (rhGH) use in the pediatric population, no long-term follow-up data are available for Korean patients. To fill in the gap of knowledge, a registry study (LG Growth Study) was initiated to assess the safety and effectiveness of four types of rhGH products in real-life settings. METHODS: A total of 4,000 children will be registered and prospectively followed up at 6-month intervals until 2 years after epiphyseal closure to collect data on treatment and adverse events, with primary interest in malignancies and growth outcomes...
March 2018: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29581156/height-outcome-of-the-recombinant-human-growth-hormone-treatment-in-turner-syndrome-a-meta-analysis
#9
Ping Li, Fei Cheng, Lei Xiu
OBJECTIVE: This study sought to determine the effect of the recombinant human growth hormone (rhGH) treatment of Turner syndrome (TS) on height outcome. METHODS: We searched in MEDLINE, EMBASE and Cochrane Central Register of Controlled Trials and Cochrane Database of Systematic Reviews. A literature search identified 640 records. After screening and full-text assessment, 11 records were included in the systematic review. Methodological quality was assessed using the Cochrane Risk of Bias tool...
April 2018: Endocrine Connections
https://www.readbyqxmd.com/read/29580553/karyotype-classification-clinical-manifestations-and-outcome-in-124-turner-syndrome-patients-in-china
#10
Hua-Hong Wu, Hui Li
OBJECTIVE: To investigate the karyotype, clinical manifestations and natural and therapeutic outcome of Turner syndrome (TS) in China. METHOD: A total of 124 TS patients with definite diagnosis were included. Karyotype, main clinical signs, sexual development and therapeutic outcome were analyzed. RESULTS: TS karyotype was classified in 4 types: monosomy (32.7%), mosaic (15.9%), variant (23.9%) and mosaic with variant (27.4%). All patients showed short stature, with mean adult height<145cm...
March 23, 2018: Annales D'endocrinologie
https://www.readbyqxmd.com/read/29541059/secular-trends-on-birth-parameters-growth-and-pubertal-timing-in-girls-with-turner-syndrome
#11
Joachim Woelfle, Anders Lindberg, Ferah Aydin, Ken K Ong, Cecilia Camacho-Hubner, Bettina Gohlke
Background: Whether children with chromosomal disorders of growth and puberty are affected by secular trends (STs) as observed in the general population remains unanswered, but this question has relevance for expectations of spontaneous development and treatment responses. Objectives: The aim of the study was to evaluate STs in birth parameters, growth, and pubertal development in girls with Turner syndrome (TS). Study design: Retrospective analysis of KIGS data (Pfizer International Growth Database)...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29492108/human-ring-chromosome-registry-for-cases-in-the-chinese-population-re-emphasizing-cytogenomic-and-clinical-heterogeneity-and-reviewing-diagnostic-and-treatment-strategies
#12
REVIEW
Qiping Hu, Hongyan Chai, Wei Shu, Peining Li
Background: Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic behavior of ring chromosome through cell cycles. Chromosomal and regional specific phenotypes likely result from segmental losses and gains during the ring formation. Although recent applications of genomic copy number and sequencing analyses revealed various ring chromosome structures from an increasing number of case studies, there was no organized effort for compilating and curating cytogenomic and clinical finding for ring chromosomes...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29438552/estrogen-replacement-in-turner-syndrome-literature-review-and-practical-considerations
#13
Karen O Klein, Robert L Rosenfield, Richard J Santen, Aneta M Gawlik, Philippe F Backeljauw, Claus H Gravholt, Theo C J Sas, Nelly Mauras
Context: Most girls with Turner syndrome (TS) have hypergonadotropic hypogonadism and need hormonal replacement for induction of puberty and then for maintaining secondary sex characteristics, attaining peak bone mass, and uterine growth. The optimal estrogen replacement regimen is still being studied. Evidence Acquisition: We conducted a systematic search of PubMed for studies related to TS and puberty. Evidence Synthesis: The goals of replacement are to mimic normal timing and progression of physical and social development while minimizing risks...
May 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29427215/systematic-review-of-quality-of-life-in-turner-syndrome
#14
REVIEW
Carolina Trombeta Reis, Maíra Seabra de Assumpção, Gil Guerra-Junior, Sofia Helena Valente de Lemos-Marini
PURPOSE: This study aimed to systematically review the available literature on "quality of life" (QoL) or "health-related quality of life" (HRQoL) in Turner syndrome (TS) patients and to analyze the relations among height, puberty, and the use of growth hormone (GH) and the QoL of TS patients. METHODS: An electronic bibliographic search was conducted through the PubMed, Embase, Bireme, Scopus, and Web of Science databases. The main terms were "Quality of Life" and "Turner syndrome...
August 2018: Quality of Life Research
https://www.readbyqxmd.com/read/29415703/fsh-may-be-a-useful-tool-to-allow-early-diagnosis-of-turner-syndrome
#15
Stela Carpini, Annelise Barreto Carvalho, Sofia Helena Valente de Lemos-Marini, Gil Guerra-Junior, Andréa Trevas Maciel-Guerra
BACKGROUND: Ultrasensitive assays to measure pre-pubertal gonadotropins levels could help identify patients with Turner syndrome (TS) in mid-childhood, but studies in this field are scarce. The aim of this study was to analyze gonadotropins levels in girls with TS throughout childhood. METHODS: Retrospective longitudinal study conducted with 15 girls with TS diagnosed with < 5 years whose FSH and LH measures were available since then. Hormones were evaluated in newborn/mini-puberty (< 0...
February 7, 2018: BMC Endocrine Disorders
https://www.readbyqxmd.com/read/29392348/determinants-of-increased-aortic-diameters-in-young-normotensive-patients-with-turner-syndrome-without-structural-heart-disease
#16
A Uçar, Melike Tuğrul, Bülent Oğuz Erol, Ensar Yekeler, Banu Aydın, Seher Yıldız, Kemal Nişli, Firdevs Baş, Şükran Poyrazoğlu, Feyza Darendeliler, Nurçin Saka, Aylin Yetim Şahin, Yasin Yılmaz, Rüveyde Bundak
Factors associated with aortic dilation and dissection in patients with Turner syndrome (TS) remain unclear. We assessed magnetic resonance imaging-based aortic diameters at nine predefined anatomic positions and examined associations of increased aortic diameters with B-type natriuretic peptide (BNP), A-type NP (ANP), growth hormone treatment, insulin-like growth factor 1 (IGF1), and estrogen status. Forty-seven patients with TS aged 7.3-21 years and 34 healthy peers were enrolled in this study. Aortic diameters were higher in patients with TS at three positions than in controls (p < 0...
April 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29306927/a-rare-unbalanced-y-autosome-translocation-in-a-turner-syndrome-patient
#17
Ruen Yao, Ding Yu, Jian Wang, Xiumin Wang, Yiping Shen
BACKGROUND: Y:autosome translocations are reported to be associated with male infertility and azoospermia. Female cases with Y:autosome translocation are extremely rare. CASE PRESENTATION: We report a unique case of a rare unbalanced translocation t(Y;13) in a 12-year-old girl with Turner syndrome. Combined cytogenetic testing helped to demonstrate the detail of rare chromosomal structural rearrangement in this patient. CONCLUSIONS: The presented case showed femaleness phenotype and failure of masculinization with presence of Y chromosome and the SRY gene...
March 28, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/29300907/a-6-year-follow-up-of-fracture-incidence-and-volumetric-bone-mineral-density-development-in-girls-with-turner-syndrome
#18
Ondrej Soucek, Eckhard Schönau, Jan Lebl, Johannes Willnecker, Zdenek Hlavka, Zdenek Sumnik
Context: Patients with Turner syndrome (TS) are at risk for osteoporotic fractures. Objective: The aims of this study were to assess the incidence of clinically important fractures in girls with TS and prospectively describe the development of volumetric bone mineral density (BMD). Design: Peripheral quantitative computerized tomography (pQCT) of the radius every other year over the 6 years of observation. Setting: Government-funded university referral center...
March 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28926833/circulating-igf-i-igfbp-3-and-the-igf-i-igfbp-3-molar-ratio-concentration-and-height-outcome-in-prepubertal-short-children-on-rhgh-treatment-over-two-years-of-therapy
#19
María Gabriela Ballerini, Débora Braslavsky, Paula Alejandra Scaglia, Ana Keselman, María Eugenia Rodríguez, Alicia Martínez, Analía Verónica Freire, Horacio Mario Domené, Héctor Guillermo Jasper, Ignacio Bergadá, María Gabriela Ropelato
OBJECTIVE: To investigate the occurrence of abnormally elevated values of biomarkers of growth hormone (GH) action in short children on recombinant human GH (rhGH) therapy. METHODS: Sixty-three prepubertal short children were examined: 31 with GH deficiency (GHD), 25 small for gestational age (SGA), and 9 with Turner syndrome (TS). The main outcomes were the following: standard deviation score (SDS) values of IGF-I, IGFBP-3, and IGF-I/IGFBP-3 molar ratio before, at the 1st and at the 2nd year on rhGH and Δheight (Ht)-SDS to evaluate GH treatment efficacy (adequate 1st-year ΔHt SDS: >0...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28902629/individualised-growth-response-optimisation-igro-tool-an-accessible-and-easy-to-use-growth-prediction-system-to-enable-treatment-optimisation-for-children-treated-with-growth-hormone
#20
REVIEW
Jane Loftus, Anders Lindberg, Ferah Aydin, Roy Gomez, Mohamad Maghnie, Raoul Rooman, Heinz Steinkamp, Helmuth Doerr, Michael Ranke, Cecilia Camacho-Hubner
BACKGROUND: Growth prediction models (GPMs) exist to support clinical management of children treated with growth hormone (GH) for growth hormone deficiency (GHD), Turner syndrome (TS) and for short children born small for gestational age (SGA). Currently, no prediction system has been widely adopted. CONTENT: The objective was to develop a stand-alone web-based system to enable the widespread use of an 'individualised growth response optimisation' (iGRO) tool across European endocrinology clinics...
October 26, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
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