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Cardiology1095 papers

Right Parsonage Turner syndrome

Last edited: 4/23/2026

Overview

Turner syndrome is a chromosomal disorder characterized by partial or complete absence of one X chromosome in females, leading to short stature, pubertal arrest, amenorrhea, infertility, and various multisystem manifestations including cardiovascular, endocrine, and neurodevelopmental issues. 118

Diagnosis

  • Karyotype analysis: Essential for confirming diagnosis (45,X). 118
  • Physical examination: Focus on short stature, webbed neck, and other characteristic features. 18
  • Endocrine assessment: Evaluate for hypergonadotropic hypogonadism via LH, FSH, and estradiol levels. 12
  • Cardiac evaluation: Echocardiography to screen for aortic root dilation and other congenital heart defects. 1932
  • Neurodevelopmental screening: Assess cognitive and behavioral aspects, including IQ testing and psychological evaluations. 6864
  • Management

  • Growth hormone therapy: Recommended for prepubertal girls to improve final height. 530
  • Estrogen replacement therapy: Essential for pubertal development, bone health, and secondary sexual characteristics; initiate typically at age 12-13. 1233
  • Fertility preservation: Consider ovarian tissue cryopreservation in early childhood for future reproductive options. 441
  • Cardiovascular monitoring: Regular echocardiograms to monitor aortic root dimensions and manage risk of dissection. 133240
  • Bone health: Monitor and treat low bone mass with bisphosphonates if necessary; consider timing of estrogen therapy. 111233
  • Psychosocial support: Provide counseling and support groups for patients and families. 2567
  • Special Populations

  • Pediatrics: Early intervention with growth hormone and monitoring for developmental delays crucial. 561564
  • Adolescents: Focus on pubertal induction, fertility counseling, and psychological support. 2767
  • Comorbidities: Manage cardiovascular risks, including hypertension and hyperhomocysteinemia, with targeted interventions. 22333843
  • Key Recommendations

  • Initiate growth hormone therapy in prepubertal girls to optimize final height (Evidence: Strong 530).
  • Begin estrogen replacement therapy around Tanner stage 2-3 or age 12-13 to support pubertal development and bone health (Evidence: Strong 1233).
  • Regular echocardiograms are necessary to monitor aortic root dimensions and prevent aortic dissection (Evidence: Strong 133240).
  • Offer fertility preservation options, including ovarian tissue cryopreservation, to prepubertal girls (Evidence: Moderate 441).
  • Screen for and manage cardiovascular risks, including hypertension and hyperhomocysteinemia, throughout life (Evidence: Moderate 223843).
  • References

    Showing 100 most recent of 684 indexed papers.

    1 Hinds D, Pimenta JM, Low A, Mittal D, Gala S, Gupta D. A Systematic Review and Meta-Analysis of the Birth Prevalence of Turner Syndrome. American journal of medical genetics. Part A 2026. link 2 Sage A, Rives N, Levadé R, Réal-Lhommet A, Letailleur M, Jumeau F et al.. Fertility preservation and counselling in prepubertal and pubertal girls with Turner syndrome. Human reproduction (Oxford, England) 2026. link 3 Rocha VBC, Mezzalira R, Stoler G, Guerra-Junior G, de Lemos-Marini SHV, Maciel-Guerra AT. High frequency of balance abnormalities in Turner syndrome. Brazilian journal of otorhinolaryngology 2026. link 4 Miyamoto W, Nakamura Y, Hattori H, Okuyama N, Fukuoka Y, Hashimoto T et al.. First Report on Ovarian Tissue Cryopreservation for A 6-Year-Old Girl with Non-Mosaic Turner Syndrome (45, X) in Japan: A Case Report. The Tohoku journal of experimental medicine 2026. link 5 Valdivieso-Andrade E, Hermanussen M, Scheffler C. Growth patterns: Pathology vs. Normal variation. Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society 2026. link 6 Śledzikowska Z, Makaruk N, Kubicka D, Waszkiewicz N. A hierarchical gene-hormone model of cognitive circuit development in Turner syndrome (45,X). Neuroscience and biobehavioral reviews 2026. link 7 Dowlut-McElroy T, Hyunh VO, Roth L, Ross M, Priebe AM, Maher JCY et al.. Fertility Attitudes of Adolescents and Young Adults With Turner Syndrome and Their Parents/Guardians: A Pilot Cross-Sectional Survey Study. Journal of pediatric and adolescent gynecology 2026. link 8 Hutaff-Lee C, Jolliffe M, Swenson KS, Wakeman H, Swain D, Furniss A et al.. Neurodevelopmental and Mental Health Diagnoses Among Pediatric Patients With Turner Syndrome: A PEDSnet Study. American journal of medical genetics. Part A 2026. link 9 Oktem O, Kalajahi HG, Esmaeilian Y, Benlioglu C, Hela F, Yusufoglu S et al.. Clinical and molecular features of ovarian stimulation in peripubertal girls with mosaic Turner's syndrome. Human reproduction (Oxford, England) 2026. link 10 Roszkowska AM, Mancini M, Gargiulo L, Pepe G, Gargano R, Aversa T et al.. Corneal biomechanics alterations and increased risk for corneal ectasia in Turner syndrome. International ophthalmology 2026. link 11 Gargari P, Mondal S, Bose C, Chowdhury S, Mukhopadhyay S. DXA Derived Low Bone Mass in a Cohort of Prepubertal Eastern Indian Girls With Turner Syndrome Disappeared Following Adjustment for Short Stature. Clinical endocrinology 2026. link 12 Vieira CAFA, Fontenele EGP, Bessa DS, Lopes FKM, Queiroz LL, Grangeiro CHP et al.. Low Bone Mass is Common and Associated with Delayed Estrogen Replacement Therapy in Adult Brazilian Women with Turner Syndrome. Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry 2026. link 13 Thunström S, Thunström E, Naessén S, Berntorp K, Laczna Kitlinski M, Ekman B et al.. All-cause mortality and death by aortic dissection in women with Turner syndrome: A national clinical cohort study. American heart journal 2025. link 14 Lu S, Starr LJ, Taylor RA, Yetman AT. Bullous Lung Disease in Turner Syndrome: An Underrecognized Comorbidity?. American journal of medical genetics. Part A 2025. link 15 Gao X, Cao B, Chen J, Liu M, Peng Y, Gong C. Improvement of Bone Metabolism in Prepubertal Girls with Turner Syndrome Following Long-term Pegylated Growth Hormone Treatment. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2025. link 16 Bhuiyan J, Kavarthapu R, Soliman M, Brown GT, Yano JC, Dowlut-McElroy T et al.. Histologic analysis of gonadal tissue in patients with Turner syndrome and Y chromosome material. Journal of pediatric urology 2025. link 17 Villarreal EML, Prado SC, Schack AK, Sánchez SÁ, Casado MA, Krych L et al.. The importance of genetic counselling for turner syndrome transition. European child & adolescent psychiatry 2025. link 18 Turner HE, Johannsen EB, Smyth A, Orchard E, Gravholt CH. Approach to the Patient With Turner Syndrome. The Journal of clinical endocrinology and metabolism 2025. link 19 Hu F, Wang Y, Chen Y, Xu X, Ding Y, Ying L et al.. Cardiovascular phenotypes of children and adolescents with Turner syndrome from a single-center cohort study. Orphanet journal of rare diseases 2025. link 20 Dowlut-McElroy T, Long JR, Mayhew AC, Lawson A, Fei YF, Smith AK et al.. Gonadal Tumors in Individuals with Turner Syndrome and Y-Chromosome Mosaicism: A Retrospective Multisite Study. Journal of pediatric and adolescent gynecology 2025. link 21 Kanakatti Shankar R, Gravholt CH, Backeljauw PF. Evolution of Health Care in Turner Syndrome. American journal of medical genetics. Part C, Seminars in medical genetics 2025. link 22 Kang MJ, Kanakatti Shankar R, Jee YH. Phalangeal bone growth and implications in Turner syndrome. Frontiers in endocrinology 2025. link 23 Carpini-Dantas S, Guerra-Junior G, Maciel-Guerra AT, Marmo DB, Vieira TP, Lopes CP et al.. Growth charts of Brazilian girls with Turner syndrome without the use of GH or oxandrolone. Jornal de pediatria 2025. link 24 van der Coelen S, Nadesapillai S, Peek R, Braat D, Bocca G, Finken M et al.. Puberty progression in girls with Turner syndrome after ovarian tissue cryopreservation. Fertility and sterility 2025. link 25 Shemesh-Iron M, Safrai M, Shapira M, Meirow D, Gruber N. Group Support for Parents of Girls with Turner Syndrome-A Pilot Study. Journal of pediatric and adolescent gynecology 2025. link 26 Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A et al.. Clinical practice guidelines for the care of girls and women with Turner syndrome. European journal of endocrinology 2024. link 27 Bustamante VH, Galetaki DM, Dowlut-McElroy T, Kanakatti Shankar R. Anti-Mullerian hormone and spontaneous puberty in a diverse US Turner syndrome clinic cohort: A cross-sectional study. Clinical endocrinology 2024. link 28 Birjiniuk A, Weisman AG, Laternser C, Camarda J, Brickman WJ, Habiby R et al.. Cardiovascular Manifestations of Turner Syndrome: Phenotypic Differences Between Karyotype Subtypes. Pediatric cardiology 2024. link 29 Huang SD, Bamba V, Bothwell S, Fechner PY, Furniss A, Ikomi C et al.. Development and validation of a computable phenotype for Turner syndrome utilizing electronic health records from a national pediatric network. American journal of medical genetics. Part A 2024. link 30 Aversa T, Li Pomi A, Pepe G, Corica D, Messina MF, Coco R et al.. Growth Hormone Treatment to Final Height in Turner Syndrome: Systematic Review. Clinical therapeutics 2024. link 31 Mondal S, Gargari P, Bose C, Garg MK, Chowdhury S, Mukhopadhyay S. Abnormal Body Composition Increases the Cardiometabolic Risk in Adolescents and Young Adults With Turner Syndrome. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2024. link 32 Heno J, Michel-Behnke I, Pees C. Working towards risk stratification for ascending aortic dilatation in pediatric Turner syndrome patients: results of a longitudinal echocardiographical observation. European journal of pediatrics 2024. link 33 Pham TT, Davis SM, Tong S, Campa KA, Friedman NR, Gitomer SA. High Prevalence of Obstructive Sleep-Disordered Breathing in Pediatric Patients With Turner Syndrome. Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery 2024. link 34 Kanakatti Shankar R, Carl A, Law JR, Bamba V, Brickman WJ, Prakash SK et al.. Inspiring New Science to Guide Healthcare in Turner Syndrome: Rationale, design, and methods for the InsighTS Registry. American journal of medical genetics. Part A 2024. link 35 Siqueiros-Sanchez M, Rai B, Chowdhury S, Reiss AL, Green T. Syndrome-Specific Neuroanatomical Phenotypes in Girls With Turner and Noonan Syndromes. Biological psychiatry. Cognitive neuroscience and neuroimaging 2024. link 36 Whigham CA, Vollenhoven B, Vincent AJ. Reproductive health in Turner syndrome: A narrative review. Prenatal diagnosis 2023. link 37 Bai W, Huang W, Xu R, Fu H, Zou Q, Chen L et al.. Evaluation of coronary microvascular dysfunction and risk factors in children and youth with Turner syndrome by magnetic resonance myocardial perfusion imaging. Clinical endocrinology 2023. link 38 Youness ER, Hashem SA, Hamed K, Khedr AA, Abdulhalim EN, Kamel SM et al.. The role of the deficiency of vitamin B12 and folic acid on homocysteinemia in children with Turner syndrome. Journal of pediatric endocrinology & metabolism : JPEM 2023. link 39 Stefil M, Kotalczyk A, Blair JC, Lip GYH. Cardiovascular considerations in management of patients with Turner syndrome. Trends in cardiovascular medicine 2023. link 40 Thunström S, Thunström E, Naessén S, Berntorp K, Laczna Kitlinski M, Ekman B et al.. Aortic size predicts aortic dissection in Turner syndrome - A 25-year prospective cohort study. International journal of cardiology 2023. link 41 Bollig KJ, Mainigi M, Senapati S, Lin AE, Levitsky LL, Bamba V. Turner syndrome: fertility counselling in childhood and through the reproductive lifespan. Current opinion in endocrinology, diabetes, and obesity 2023. link 42 Jones L, Blair J, Hawcutt DB, Lip GYH, Shantsila A. Hypertension in Turner syndrome: a review of proposed mechanisms, management and new directions. Journal of hypertension 2023. link 43 McCarrison S, Carr A, Wong SC, Mason A. The prevalence of hypertension in paediatric Turner syndrome: a systematic review and meta-analysis. Journal of human hypertension 2023. link 44 Li Q, Li X, Li X, Feng Y. Partial anomalous pulmonary venous connection and pulmonary venous varix coexist in Turner syndrome: a case report. Cardiology in the young 2022. link 45 Korula S, Beryl S, Kamath V, Mathew SS, Joseph V. Turner Syndrome and Craniopharyngioma. Indian journal of pediatrics 2022. link 46 Dejonckheere C, Moyson C, de Zegher F, Antonio L, Van Buggenhout G, Decallonne B. Neoplasia in Turner syndrome: a retrospective cohort study in a tertiary referral centre in Belgium. Acta clinica Belgica 2022. link 47 Vrtel P, Vrtel R, Klaskova E, Vrbicka D, Adamova K, Pavlicek J et al.. Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms. Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2022. link 48 Streur CS, Floody EA, Lapham ZK, Sandberg DE. The transition to independence and adult care for women with Turner syndrome: Current status and priorities of 1338 women and parents. American journal of medical genetics. Part A 2022. link 49 Viuff MH, Stochholm K, Juul S, Gravholt CH. Disorders of the eye, ear, skin, and nervous system in women with Turner syndrome -a nationwide cohort study. European journal of human genetics : EJHG 2022. link 50 Klabunde M, Piccirilli A, Bruno J, Gendron M, Reiss AL. Empathic Accuracy in Adolescent Girls with Turner Syndrome. Journal of autism and developmental disorders 2022. link 51 Bogavac I, Jeličić L, Nenadović V, Subotić M, Janjić V. The speech and language profile of a child with Turner Syndrome- a case study. Clinical linguistics & phonetics 2022. link 52 Hong YH, Kim DG, Lee JH, Jung MJ, Choi CY. The Unusual Case of Fibroma of Tendon Sheath in a Young Girl with Turner Syndrome Undergoing Growth Hormone Treatment. Journal of clinical research in pediatric endocrinology 2021. link 53 Saito S, Koga E, Okada Y, Tsuburai T, Yoshikata H, Miyagi E et al.. Effects of age at estrogen replacement therapy initiation on trabecular bone score in Japanese adults with Turner syndrome. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2021. link 54 Yetman AT, Bisselou KSM, Sanmann JN, Katz RJ, Steingraeber CJ, Wilde M et al.. Vascular dissection in women with Turner syndrome. International journal of cardiology 2021. link 55 Jivraj S, Stillwell S. Turner syndrome through the lens of a gynaecologist. Post reproductive health 2021. link 56 Bazilio MMM, Santos AFDD, Almeida FG, Frota S, Guimarães M, Ribeiro MG. Association between cytogenetic alteration and the audiometric profile of individuals with Turner syndrome. Brazilian journal of otorhinolaryngology 2021. link 57 Gault EJ, Cole TJ, Casey S, Hindmarsh PC, Betts P, Dunger DB et al.. Effect of oxandrolone and timing of pubertal induction on final height in Turner syndrome: final analysis of the UK randomised placebo-controlled trial. Archives of disease in childhood 2021. link 58 Oletić L, Šepec MP, Sabolić LL, Stipančić G. Turner Syndrome: for successful treatment it is necessary to diagnose it early. Minerva endocrinology 2021. link 59 Nadesapillai S, van der Velden J, Smeets D, van de Zande G, Braat D, Fleischer K et al.. Why are some patients with 45,X Turner syndrome fertile? A young girl with classical 45,X Turner syndrome and a cryptic mosaicism in the ovary. Fertility and sterility 2021. link 60 Blunden CE, Urbina EM, Lawson SA, Gutmark-Little I, Shah AS, Khoury PR et al.. Progression of Vasculopathy in Young Individuals with Turner Syndrome. Pediatric cardiology 2021. link 61 Pan Z, Shen Z, Zhu H, Bao Y, Liang S, Wang S et al.. Clinical application of an automatic facial recognition system based on deep learning for diagnosis of Turner syndrome. Endocrine 2021. link 62 Donadille B, Christin-Maitre S. Heart and Turner syndrome. Annales d'endocrinologie 2021. link 63 Kouvidi E, Zachaki S, Selenti N, Veltra D, Evmorfopoulou T, Tsoutsou E et al.. Detection of a novel unbalanced X;21 translocation in a girl with Turner syndrome phenotype. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2021. link 64 Davis S, Crerand C, Hutaff-Lee C, Thompson T, Tishelman A, Samara O et al.. Neurodevelopmental and Mental Health Screening for Patients with Turner Syndrome in Pediatric Endocrine Clinics: Results of a Pediatric Endocrine Society Survey. Hormone research in paediatrics 2020. link 65 Eroğlu Filibeli B, Havare N, Erbak Yılmaz H, Yıldırım JG, Çatlı G, Dündar BN. Evaluation of Turner Syndrome Knowledge among Physicians and Parents. Journal of clinical research in pediatric endocrinology 2020. link 66 Dabrowski E, Johnson EK, Patel V, Hsu Y, Davis S, Goetsch AL et al.. Turner Syndrome with Y Chromosome: Spontaneous Thelarche, Menarche, and Risk of Malignancy. Journal of pediatric and adolescent gynecology 2020. link 67 Liedmeier A, Jendryczko D, van der Grinten HC, Rapp M, Thyen U, Pienkowski C et al.. Psychosocial well-being and quality of life in women with Turner syndrome. Psychoneuroendocrinology 2020. link 68 Chou YY, Wang CJ, Lin CH, Chung HT, Lo FS. Association between cardiovascular anomalies and karyotypes in Turner syndrome patients in Taiwan: A local cohort study. Pediatrics and neonatology 2020. link 69 Kruszka P, Addissie YA, Tekendo-Ngongang C, Jones KL, Savage SK, Gupta N et al.. Turner syndrome in diverse populations. American journal of medical genetics. Part A 2020. link 70 Baker JM, Klabunde M, Jo B, Green T, Reiss AL. On the relationship between mathematics and visuospatial processing in Turner syndrome. Journal of psychiatric research 2020. link 71 O'Donoghue S, Green T, Ross JL, Hallmayer J, Lin X, Jo B et al.. Brain Development in School-Age and Adolescent Girls: Effects of Turner Syndrome, Estrogen Therapy, and Genomic Imprinting. Biological psychiatry 2020. link 72 Lim D, Hassani S, Lupton K, Gault EJ, Wynne D, Clement W et al.. Prevalence, risk factors and management strategies for otological problems in girls with Turner syndrome. Acta paediatrica (Oslo, Norway : 1992) 2020. link 73 Santos LO, Laranjeira R, Borborema MEBA, Sotero-Caio CG, Duarte AR, Araújo J et al.. Vitamin D receptor (VDR) gene polymorphisms and expression profile influence upon the immunological imbalance in Turner syndrome. Journal of endocrinological investigation 2020. link 74 Oberhoffer FS, Abdul-Khaliq H, Jung AM, Rohrer TR, Abd El Rahman M. Left ventricular remodelling among Turner syndrome patients: insights from non-invasive 3D echocardiography-derived pressure-volume loop analysis. Clinical research in cardiology : official journal of the German Cardiac Society 2020. link 75 Van De Kelft AS, Lievens C, De Groote K, Demulier L, De Backer J, T'Sjoen G et al.. Disproportion and dysmorphism in an adult Belgian population with Turner syndrome: risk factors for chronic diseases?. Acta clinica Belgica 2020. link 76 Thompson T, Zieba B, Howell S, Karakash W, Davis S. A mixed methods study of physical activity and quality of life in adolescents with Turner syndrome. American journal of medical genetics. Part A 2020. link 77 Calcaterra V, Larizza D, De Giuseppe R, De Liso F, Klersy C, Albertini R et al.. Diet and Lifestyle Role in Homocysteine Metabolism in Turner Syndrome. Medical principles and practice : international journal of the Kuwait University, Health Science Centre 2019. link 78 Wu HH, Li H. Karyotype classification, clinical manifestations and outcome in 124 Turner syndrome patients in China. Annales d'endocrinologie 2019. link 79 Koenraadt WMC, Siebelink HJ, Bartelings MM, Schalij MJ, van der Vlugt MJ, van den Bosch AE et al.. Coronary anatomy in Turner syndrome versus patients with isolated bicuspid aortic valves. Heart (British Cardiac Society) 2019. link 80 Talaulikar VS, Conway GS, Pimblett A, Davies MC. Outcome of ovarian stimulation for oocyte cryopreservation in women with Turner syndrome. Fertility and sterility 2019. link 81 Duijnhouwer AL, Bons LR, Timmers HJLM, van Kimmenade RRL, Snoeren M, Timmermans J et al.. Aortic dilatation and outcome in women with Turner syndrome. Heart (British Cardiac Society) 2019. link 82 Kriksciuniene R, Zilaitiene B, Lukosevicius S, Ereminiene E, Klimaite R, Verkauskiene R. The main predictors of the enlargement of ascending aorta in Turner syndrome: a cross-sectional contrast-enhanced magnetic resonance angiography study. Minerva endocrinologica 2019. link 83 Berglund A, Cleemann L, Oftedal BE, Holm K, Husebye ES, Gravholt CH. 21-hydroxylase autoantibodies are more prevalent in Turner syndrome but without an association to the autoimmune polyendocrine syndrome type I. Clinical and experimental immunology 2019. link 84 Siller AF, Shimony A, Shinawi M, Amarillo I, Dehner LP, Semenkovich K et al.. Inherited Deletion of 1q, Hyperparathyroidism and Signs of Y-chromosomal Influence in a Patient with Turner Syndrome. Journal of clinical research in pediatric endocrinology 2019. link 85 Tuke MA, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE et al.. Mosaic Turner syndrome shows reduced penetrance in an adult population study. Genetics in medicine : official journal of the American College of Medical Genetics 2019. link 86 Hankus M, Soltysik K, Szeliga K, Antosz A, Drosdzol-Cop A, Wilk K et al.. Prediction of Spontaneous Puberty in Turner Syndrome Based on Mid-Childhood Gonadotropin Concentrations, Karyotype, and Ovary Visualization: A Longitudinal Study. Hormone research in paediatrics 2018. link 87 Corbitt H, Maslen C, Prakash S, Morris SA, Silberbach M. Allometric considerations when assessing aortic aneurysms in Turner syndrome: Implications for activity recommendations and medical decision-making. American journal of medical genetics. Part A 2018. link 88 Ouarezki Y, Cizmecioglu FM, Mansour C, Jones JH, Gault EJ, Mason A et al.. Measured parental height in Turner syndrome-a valuable but underused diagnostic tool. European journal of pediatrics 2018. link 89 Bois E, Nassar M, Zenaty D, Léger J, Van Den Abbeele T, Teissier N. Otologic disorders in Turner syndrome. European annals of otorhinolaryngology, head and neck diseases 2018. link 90 Inanc M, Tekin K, Kurnaz E, Citirik M, Altas G, Aycan Z. Evaluation of anterior segment parameters in patients with Turner syndrome using Scheimpflug imaging. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2018. link 91 Wikiera B, Zawadzka K, Łaczmański Ł, Słoka N, Bolanowski M, Basiak A et al.. Growth Hormone Treatment Increases Plasma Irisin Concentration in Patients with Turner Syndrome. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2017. link 92 Cleemann L, Holm K, Kobbernagel H, Kristensen B, Skouby SO, Jensen AK et al.. Dosage of estradiol, bone and body composition in Turner syndrome: a 5-year randomized controlled clinical trial. European journal of endocrinology 2017. link 93 Sun YX, Zhang YX, Zhang D, Xu CM, Chen SC, Zhang JY et al.. XCI-escaping gene KDM5C contributes to ovarian development via downregulating miR-320a. Human genetics 2017. link 94 Parveen S, Panicker MM, Gupta PK. Generation of an induced pluripotent stem cell line from chorionic villi of a Turner syndrome spontaneous abortion. Stem cell research 2017. link 95 van den Hoven AT, Duijnhouwer AL, Eicken A, Aboulhosn J, de Bruin C, Backeljauw PF et al.. Adverse outcome of coarctation stenting in patients with Turner syndrome. Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions 2017. link 96 van Hagen IM, Duijnhouwer AL, Ten Kate-Booij MJ, Dykgraaf RH, Duvekot JJ, Utens EM et al.. Wish to conceive and concerns to develop cardiovascular complications during pregnancy in patients with Turner syndrome. Journal of psychosomatic obstetrics and gynaecology 2017. link 97 Wiechec M, Knafel A, Nocun A, Wiercinska E, Ludwin A, Ludwin I. What are the most common first-trimester ultrasound findings in cases of Turner syndrome?. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2017. link 98 Cintron D, Rodriguez-Gutierrez R, Serrano V, Latortue-Albino P, Erwin PJ, Murad MH. Effect of estrogen replacement therapy on bone and cardiovascular outcomes in women with turner syndrome: a systematic review and meta-analysis. Endocrine 2017. link 99 Hasegawa Y, Ariyasu D, Izawa M, Igaki-Miyamoto J, Fukuma M, Hatano M et al.. Gradually increasing ethinyl estradiol for Turner syndrome may produce good final height but not ideal BMD. Endocrine journal 2017. link 100 Pires LV, Siviero-Miachon AA, Spinola-Castro AM, Pimentel JA, Nishimura LS, Maia CS et al.. Selenium Status in Patients with Turner Syndrome: a Biochemical Assessment Related with Body Composition. Biological trace element research 2017. link

    Original source

    1. [1]
      A Systematic Review and Meta-Analysis of the Birth Prevalence of Turner Syndrome.Hinds D, Pimenta JM, Low A, Mittal D, Gala S, Gupta D American journal of medical genetics. Part A (2026)
    2. [2]
      Fertility preservation and counselling in prepubertal and pubertal girls with Turner syndrome.Sage A, Rives N, Levadé R, Réal-Lhommet A, Letailleur M, Jumeau F et al. Human reproduction (Oxford, England) (2026)
    3. [3]
      High frequency of balance abnormalities in Turner syndrome.Rocha VBC, Mezzalira R, Stoler G, Guerra-Junior G, de Lemos-Marini SHV, Maciel-Guerra AT Brazilian journal of otorhinolaryngology (2026)
    4. [4]
      First Report on Ovarian Tissue Cryopreservation for A 6-Year-Old Girl with Non-Mosaic Turner Syndrome (45, X) in Japan: A Case Report.Miyamoto W, Nakamura Y, Hattori H, Okuyama N, Fukuoka Y, Hashimoto T et al. The Tohoku journal of experimental medicine (2026)
    5. [5]
      Growth patterns: Pathology vs. Normal variation.Valdivieso-Andrade E, Hermanussen M, Scheffler C Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society (2026)
    6. [6]
      A hierarchical gene-hormone model of cognitive circuit development in Turner syndrome (45,X).Śledzikowska Z, Makaruk N, Kubicka D, Waszkiewicz N Neuroscience and biobehavioral reviews (2026)
    7. [7]
      Fertility Attitudes of Adolescents and Young Adults With Turner Syndrome and Their Parents/Guardians: A Pilot Cross-Sectional Survey Study.Dowlut-McElroy T, Hyunh VO, Roth L, Ross M, Priebe AM, Maher JCY et al. Journal of pediatric and adolescent gynecology (2026)
    8. [8]
      Neurodevelopmental and Mental Health Diagnoses Among Pediatric Patients With Turner Syndrome: A PEDSnet Study.Hutaff-Lee C, Jolliffe M, Swenson KS, Wakeman H, Swain D, Furniss A et al. American journal of medical genetics. Part A (2026)
    9. [9]
      Clinical and molecular features of ovarian stimulation in peripubertal girls with mosaic Turner's syndrome.Oktem O, Kalajahi HG, Esmaeilian Y, Benlioglu C, Hela F, Yusufoglu S et al. Human reproduction (Oxford, England) (2026)
    10. [10]
      Corneal biomechanics alterations and increased risk for corneal ectasia in Turner syndrome.Roszkowska AM, Mancini M, Gargiulo L, Pepe G, Gargano R, Aversa T et al. International ophthalmology (2026)
    11. [11]
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      Low Bone Mass is Common and Associated with Delayed Estrogen Replacement Therapy in Adult Brazilian Women with Turner Syndrome.Vieira CAFA, Fontenele EGP, Bessa DS, Lopes FKM, Queiroz LL, Grangeiro CHP et al. Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry (2026)
    13. [13]
      All-cause mortality and death by aortic dissection in women with Turner syndrome: A national clinical cohort study.Thunström S, Thunström E, Naessén S, Berntorp K, Laczna Kitlinski M, Ekman B et al. American heart journal (2025)
    14. [14]
      Bullous Lung Disease in Turner Syndrome: An Underrecognized Comorbidity?Lu S, Starr LJ, Taylor RA, Yetman AT American journal of medical genetics. Part A (2025)
    15. [15]
      Improvement of Bone Metabolism in Prepubertal Girls with Turner Syndrome Following Long-term Pegylated Growth Hormone Treatment.Gao X, Cao B, Chen J, Liu M, Peng Y, Gong C Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme (2025)
    16. [16]
      Histologic analysis of gonadal tissue in patients with Turner syndrome and Y chromosome material.Bhuiyan J, Kavarthapu R, Soliman M, Brown GT, Yano JC, Dowlut-McElroy T et al. Journal of pediatric urology (2025)
    17. [17]
      The importance of genetic counselling for turner syndrome transition.Villarreal EML, Prado SC, Schack AK, Sánchez SÁ, Casado MA, Krych L et al. European child & adolescent psychiatry (2025)
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      Approach to the Patient With Turner Syndrome.Turner HE, Johannsen EB, Smyth A, Orchard E, Gravholt CH The Journal of clinical endocrinology and metabolism (2025)
    19. [19]
      Cardiovascular phenotypes of children and adolescents with Turner syndrome from a single-center cohort study.Hu F, Wang Y, Chen Y, Xu X, Ding Y, Ying L et al. Orphanet journal of rare diseases (2025)
    20. [20]
      Gonadal Tumors in Individuals with Turner Syndrome and Y-Chromosome Mosaicism: A Retrospective Multisite Study.Dowlut-McElroy T, Long JR, Mayhew AC, Lawson A, Fei YF, Smith AK et al. Journal of pediatric and adolescent gynecology (2025)
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