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Turner syndrome growth hormone

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https://www.readbyqxmd.com/read/30380946/endocrinopathies-and-cardiopathies-in-patients-with-turner-syndrome
#1
Z A Allybocus, C Wang, Hr Shi, Qh Wu
Ovarian dysgenesis, short stature, and infertility are common features of Turner syndrome (TS). Endocrinopathies and cardiopathies are less common, but may induce significant complications, and are the leading cause of mortality in TS patients. Endocrine abnormality including osteoporosis occurs in up to 60% of patients, hypothyroidism at an incidence of 3.2%, and impaired glucose metabolism with variable incidence depending on the age group. Estrogen therapy and growth hormone therapy, alone or combined, improve height and bone mass in TS patients...
November 1, 2018: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/30371036/is-there-a-difference-between-ultrasonographic-us-uterine-changes-of-oral-versus-transdermal-td-17%C3%AE-estradiol-17%C3%AE-e2-in-girls-with-turner-syndrome-ts-own-experience-and-literature-review
#2
Jonathan Kraus, Nancy Unanue, Aníbal Espinoza, German Iniguez, Lournaris Torres-Santiago, Ravinder Singh, Nelly Mauras, Veronica Mericq
BACKGROUND: Among patients with Turner Syndrome (TS), premature ovarian failure is a main feature. Recently published consensus guidelines recommend that transdermal (TD) estradiol is the preferred route for estrogen replacement. Studies related to ultrasound (US) measurements during estrogen replacement in TS patients using estradiol (17β E2) and correlating uterine growth with estrogen metabolites are limited. OBJECTIVES: To compare uterine morphology and hormonal changes depending on route of administration of 17β E2 (oral vs...
September 2018: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/30368486/aortic-dilatation-and-outcome-in-women-with-turner-syndrome
#3
Anthonie L Duijnhouwer, Lidia R Bons, Henri J L M Timmers, Roland R L van Kimmenade, Miranda Snoeren, Janneke Timmermans, Allard T van den Hoven, Marlies Kempers, Arie P J van Dijk, Kathrin Fleischer, Jolien W Roos-Hesselink
BACKGROUND: Women with Turner syndrome (TS) are at increased risk of aortic dissection, which is related to ascending aortic diameter. However, the relation between aortic diameter and outcome is not well determined. This study evaluates the prevalence of aortic dilatation, the growth rate of the aorta and the risk of aortic complications in adults with TS. METHODS: Single centre, retrospective study of all women with TS followed with a strict protocol in an outpatient TS clinic...
October 27, 2018: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/30219920/safety-outcomes-during-pediatric-gh-therapy-final-results-from-the-prospective-genesis-observational-program
#4
Christopher J Child, Alan G Zimmermann, George P Chrousos, Elisabeth Cummings, Cheri L Deal, Tomonobu Hasegawa, Nan Jia, Sarah Lawrence, Agnès Linglart, Sandro Loche, Mohamad Maghnie, Jacobo Pérez Sánchez, Michel Polak, Barbara Predieri, Annette Richter-Unruh, Ron G Rosenfeld, Diego Yeste, Tohru Yorifuji, Werner F Blum
Context: Safety concerns regarding premature mortality, diabetes, neoplasia and cerebrovascular disease in association with growth hormone (GH) therapy have been raised. Objective: To assess incidence of key safety outcomes. Design: Prospective, multinational, observational study (1999-2015). Setting: 22,311 GH-treated children from 827 investigative sites in 30 countries. Patients: Children with growth disorders...
September 13, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/30148102/efficacy-and-safety-of-biosimilar-growth-hormone-in-indian-children
#5
Vaman Khadilkar, Veena Ekbote, Anuradha Khadilkar, Ankita Maheshwari
Objective: To study efficacy and safety of use of biosimilar growth hormone (GH) in Indian children with growth disorders. Materials and Methods: We studied 322 children (May 2012-2017) with growth disorders including growth hormone deficiency (GHD), multiple pituitary hormone deficiency (MPHD, idiopathic short stature (ISS), small for gestational age (SGA), and Turner syndrome (TS). Children were treated either with innovator molecule (Norditropin) or biosimilar GH (Headon) with standard dosage protocol for 1 year...
July 2018: Indian Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/30137417/algorithms-to-define-abnormal-growth-in-children-external-validation-and-head-to-head-comparison
#6
Pauline Scherdel, Soraya Matczak, Juliane Léger, Christine Martinez-Vinson, Olivier Goulet, Raja Brauner, Sophie Nicklaus, Matthieu Resche-Rigon, Martin Chalumeau, Barbara Heude
Background: Growth monitoring of apparently healthy children aims at early detection of serious conditions by use of both clinical expertise and algorithms that define abnormal growth. The seven existing algorithms provide contradictory definitions of growth abnormality and have a low level of validation. Objective: An external validation study with head-to-head comparison of the seven algorithms combined with study of the impact of use of the World Health Organization (WHO) versus national growth charts on algorithm performance...
August 20, 2018: Journal of Clinical Endocrinology and Metabolism
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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