Overview
Turner's syndrome is a chromosomal disorder characterized by the partial or complete absence of one X chromosome in females, leading to a spectrum of physical and developmental features including short stature, ovarian dysgenesis, and potential cardiovascular and skeletal complications. 13471012141720242730333537404345475055606367707377Diagnosis
Management
Special Populations
Key Recommendations
References
Showing 100 most recent of 185 indexed papers.
1 Jourdain A, Leenhardt R, Popa I, Dray X. Hemorrhagic jejunal vascular malformations with loop telangiectasia in Turner's syndrome. Clinics and research in hepatology and gastroenterology 2026. link 2 Hamberis AO, Mehta CH, Dornhoffer JR, Meyer TA. Characteristics and progression of hearing loss in children with turner's syndrome. The Laryngoscope 2020. link 3 Kalopita K, Michala L, Theofanakis C, Valsamidis D. Anesthetic management of mosaic Turner's syndrome posted for elective cesarean delivery after spontaneous pregnancy. International journal of obstetric anesthesia 2018. link 4 Kubba H, Smyth A, Wong SC, Mason A. Ear health and hearing surveillance in girls and women with Turner's syndrome: recommendations from the Turner's Syndrome Support Society. Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery 2017. link 5 Alami Laroussi N, Dahdah N, Dallaire F, Thérien J, Fournier A. Aortic dilatation in patients with Turner's syndrome without structural cardiac anomaly. Cardiology in the young 2016. link 6 Yu TY, Lin HS, Chen PL, Huang TS. An isodicentric X chromosome with gonadal dysgenesis in a lady without prominent somatic features of Turner's syndrome. A case report. Journal of the Formosan Medical Association = Taiwan yi zhi 2015. link 7 Nadeem M, Roche EF. Bone mineral density in Turner's syndrome and the influence of pubertal development. Acta paediatrica (Oslo, Norway : 1992) 2014. link 8 Power T, Langlois NE, Byard RW. The forensic implications of Turner's syndrome. Journal of forensic sciences 2014. link 9 Gawlik A, Malecka-Tendera E. Transitions in endocrinology: treatment of Turner's syndrome during transition. European journal of endocrinology 2014. link 10 Sharma J, Friedman D, Dave-Sharma S, Harbison M. Aortic distensibility and dilation in Turner's syndrome. Cardiology in the young 2009. link 11 de Lemos-Marini SH, Morcillo AM, Baptista MT, Guerra G, Maciel-Guerra AT. Spontaneous final height in Turner's syndrome in Brazil. Journal of pediatric endocrinology & metabolism : JPEM 2007. link 12 Han TS, Cadge B, Conway GS. Hearing impairment and low bone mineral density increase the risk of bone fractures in women with Turner's syndrome. Clinical endocrinology 2006. link 13 Bodri D, Vernaeve V, Figueras F, Vidal R, Guillén JJ, Coll O. Oocyte donation in patients with Turner's syndrome: a successful technique but with an accompanying high risk of hypertensive disorders during pregnancy. Human reproduction (Oxford, England) 2006. link 14 Stasik CN, Giordano TJ, Gauger PG. Ganglioneuroma manifesting as an incidental adrenal mass in an adult with Turner's syndrome. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2005. link 15 Kiliç BG, Ergür AT, Ocal G. Depression, levels of anxiety and self-concept in girls with Turner's syndrome. Journal of pediatric endocrinology & metabolism : JPEM 2005. link 16 Peterkova V, Savoy C, Bezlepkina O, Ivanov A, Orlova E, Nagaeva E et al.. Efficacy and safety of Valtropin in the treatment of short stature in girls with Turner's syndrome. Journal of pediatric endocrinology & metabolism : JPEM 2004. link 17 Mancilla EE, Poggi H, Repetto G, Rumié H, García H, Ugarte F et al.. Y chromosome sequences in Turner's syndrome: association with virilization and gonadoblastoma. Journal of pediatric endocrinology & metabolism : JPEM 2003. link 18 Maćesić M, Kaić Z, Dumancić J, Poje Z, Dumić M. Occlusal molar surfaces in females with Turner's syndrome. Collegium antropologicum 2003. link 19 Robles Valdés C, del Castillo Ruiz V, Oyoqui J, Altamirano Bustamante N, de la Luz Ruiz Reyes M, Calzada León R. Growth, growth velocity and adult height in Mexican girls with Turner's syndrome. Journal of pediatric endocrinology & metabolism : JPEM 2003. link 20 Larizza D, Martinetti M, Dugoujon JM, Tinelli C, Calcaterra V, Cuccia M et al.. Parental GM and HLA genotypes and reduced birth weight in patients with Turner's syndrome. Journal of pediatric endocrinology & metabolism : JPEM 2002. link 21 Inozemtseva O, Matute E, Zarabozo D, Ramírez-Dueñas L. Syntactic processing in Turner's syndrome. Journal of child neurology 2002. link 22 Cirigliano V, Ejarque M, Fuster C, Adinolfi M. X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies. Molecular human reproduction 2002. link 23 Ishiko O, Sumi T, Ueda K, Kawamura N, Ogita S. Uterine cervical adenofibroma associated with Turner's syndrome in a young woman. Archives of gynecology and obstetrics 2002. link 24 Sas TC, de Muinck Keizer-Schrama SM, Stijnen T, van Teunenbroek A, van Leeuwen WJ, Asarfi A et al.. Bone mineral density assessed by phalangeal radiographic absorptiometry before and during long-term growth hormone treatment in girls with Turner's syndrome participating in a randomized dose-response study. Pediatric research 2001. link 25 Abir R, Fisch B, Nahum R, Orvieto R, Nitke S, Ben Rafael Z. Turner's syndrome and fertility: current status and possible putative prospects. Human reproduction update 2001. link 26 Mock, Markert UR, Vogelsang H, Jäger L. Selective T-cell deficiency in Turner's syndrome. Journal of investigational allergology & clinical immunology 2000. link 27 Efstathiadou Z, Tsatsoulis A. Turner's syndrome with concomitant hypopituitarism: case report. Human reproduction (Oxford, England) 2000. link 28 Bidwell JP, Bennet GC, Bell MJ, Witherow PJ. Leg lengthening for short stature in Turner's syndrome. The Journal of bone and joint surgery. British volume 2000. link 29 Kawabata G, Sato M, Okamoto Y, Mizuno Y, Akematsu T, Okada H. Laparoscopic removal of gonads in a Turner's syndrome mosaic female patient with isodicentric Y chromosome. International journal of urology : official journal of the Japanese Urological Association 2000. link 30 Even L, Cohen A, Marbach N, Brand M, Kauli R, Sippell W et al.. Longitudinal analysis of growth over the first 3 years of life in Turner's syndrome. The Journal of pediatrics 2000. link 31 Arslan D, Kuyucu T, Kendirci M, Kurtoglu S. Celiac disease and Turner's syndrome: patient report. Journal of pediatric endocrinology & metabolism : JPEM 2000. link 32 Chang P, Tsau YK, Tsai WY, Tsai WS, Hou JW, Hsiao PH et al.. Renal malformations in children with Turner's syndrome. Journal of the Formosan Medical Association = Taiwan yi zhi 2000. link 33 Sas TC, Cromme-Dijkhuis AH, de Muinck Keizer-Schrama SM, Stijnen T, van Teunenbroek A, Drop SL. The effects of long-term growth hormone treatment on cardiac left ventricular dimensions and blood pressure in girls with Turner's syndrome. Dutch Working Group on Growth Hormone. The Journal of pediatrics 1999. link70170-8) 34 Simmons KE. Growth hormone and craniofacial changes: preliminary data from studies in Turner's syndrome. Pediatrics 1999. link 35 Cohen MA, Sauer MV, Lindheim SR. 21-hydroxylase deficiency and Turner's syndrome: a reason for diminished endometrial receptivity. Fertility and sterility 1999. link00378-7) 36 Albareda MM, Gallego A, Enríquez J, Rodríguez JL, Webb SM. Biochemical liver abnormalities in Turner's syndrome. European journal of gastroenterology & hepatology 1999. link 37 Schwarze CP, Arens D, Haber HP, Wollmann HA, Binder G, Mayer EI et al.. Bone age in 116 untreated patients with Turner's syndrome rated by a computer-assisted method (CASAS). Acta paediatrica (Oslo, Norway : 1992) 1998. link 38 Elsheikh M, Conway GS. The impact of obesity on cardiovascular risk factors in Turner's syndrome. Clinical endocrinology 1998. link 39 Stenberg AE, Nylén O, Windh M, Hultcrantz M. Otological problems in children with Turner's syndrome. Hearing research 1998. link00113-0) 40 Macsai M, Maguen E, Nucci P. Keratoconus and Turner's syndrome. Cornea 1997. link 41 Monti LD, Brambilla P, Caumo A, Magni F, Omati S, Nizzoli G et al.. Glucose turnover and insulin clearance after growth hormone treatment in girls with Turner's syndrome. Metabolism: clinical and experimental 1997. link90153-0) 42 Rongen-Westerlaken C, Corel L, van den Broeck J, Massa G, Karlberg J, Albertsson-Wikland K et al.. Reference values for height, height velocity and weight in Turner's syndrome. Swedish Study Group for GH treatment. Acta paediatrica (Oslo, Norway : 1992) 1997. link 43 Shaw NJ, Rehan VK, Husain S, Marshall T, Smith CS. Bone mineral density in Turner's syndrome--a longitudinal study. Clinical endocrinology 1997. link 44 Takano K, Ogawa M, Tanaka T, Tachibana K, Fujita K, Hizuka N. Clinical trials of GH treatment in patients with Turner's syndrome in Japan--a consideration of final height. The Committee for the Treatment of Turner's Syndrome. European journal of endocrinology 1997. link 45 Liu WC, Hwang CB, Cheng RK, Wu RS, Hui YL, Tan PP. Unexpected left endobronchial intubation in a case of Turner's syndrome. Acta anaesthesiologica Sinica 1997. link 46 Shimizu T, Hashimoto K, Shimizu M, Ozaki M, Murata Y. Bilateral pleural effusion in the first trimester: a predictor of chromosomal abnormality and embryonic death?. American journal of obstetrics and gynecology 1997. link70222-9) 47 Mauras N, Vieira NE, Yergey AL. Estrogen therapy enhances calcium absorption and retention and diminishes bone turnover in young girls with Turner's syndrome: a calcium kinetic study. Metabolism: clinical and experimental 1997. link90078-0) 48 Lanes R, Gunczler P, Palacios A, Villaroel O. Serum lipids, lipoprotein lp(a), and plasminogen activator inhibitor-1 in patients with Turner's syndrome before and during growth hormone and estrogen therapy. Fertility and sterility 1997. link00221-5) 49 Mason JO, Tasman W. Turner's syndrome associated with bilateral retinal detachments. American journal of ophthalmology 1996. link70502-1) 50 Taback SP, Collu R, Deal CL, Guyda HJ, Salisbury S, Dean HJ et al.. Does growth-hormone supplementation affect adult height in Turner's syndrome?. Lancet (London, England) 1996. link01267-6) 51 Staiano A, Salerno M, Di Maio S, Marsullo G, Marino A, Concolino D et al.. Delayed gastric emptying: a novel gastrointestinal finding in Turner's syndrome. Archives of disease in childhood 1996. link 52 Scarfí MR, Prisco F, Bersani F, Lioi MB, Zeni O, Di Pietro R et al.. Spontaneous and mitomycin-C-induced micronuclei in lymphocytes from subjects affected by Turner's syndrome. Mutation research 1996. link00100-5) 53 Garden AS, Diver MJ, Fraser WD. Undiagnosed morbidity in adult women with Turner's syndrome. Clinical endocrinology 1996. link 54 Pejaver RK, Watson AH. Pituitary microadenoma in Turner's syndrome. The British journal of clinical practice 1995. link 55 Binder G, Koch A, Wajs E, Ranke MB. Nested polymerase chain reaction study of 53 cases with Turner's syndrome: is cytogenetically undetected Y mosaicism common?. The Journal of clinical endocrinology and metabolism 1995. link 56 Vaccaro F, Cianfarani S, Pasquino AM, Boscherini B. Is obesity-related insulin status the cause of blunted growth hormone secretion in Turner's syndrome?. Metabolism: clinical and experimental 1995. link90101-9) 57 Radetti G, Mazzanti L, Paganini C, Bernasconi S, Russo G, Rigon F et al.. Frequency, clinical and laboratory features of thyroiditis in girls with Turner's syndrome. The Italian Study Group for Turner's Syndrome. Acta paediatrica (Oslo, Norway : 1992) 1995. link 58 Mermilliod JA, Gatchair-Rose A, Svec F. Pituitary tumor and low gonadotropins in a patient with Turner's syndrome. The Journal of the Louisiana State Medical Society : official organ of the Louisiana State Medical Society 1995. link 59 Biljan MM, Taylor CT, Matijevic R, Jones SV, Garden AS, Fraser WD et al.. Exaggerated effects of progestogen on uterine artery pulsatility index in Turner's syndrome patients receiving hormone replacement therapy. Fertility and sterility 1995. link57968-0) 60 Kuo PL, Wu RC, Tzeng CC, Lin SJ, Liu SS, Huang KE. Detection of Y-chromosomal DNA with marker chromosomes in Turner's syndrome. Journal of the Formosan Medical Association = Taiwan yi zhi 1995. link 61 van der Bijl AE, Fleuren GJ, Kenter GG, de Jong D. Unique combination of an ovarian gonadoblastoma, dysgerminoma, and mucinous cystadenoma in a patient with Turner's syndrome: a cytogenetic and molecular analysis. International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists 1994. link 62 Blethen SL, Albertsson-Wikland K, Faklis EJ, Chasalow FI. Circulating growth hormone isoforms in girls with Turner's syndrome. The Journal of clinical endocrinology and metabolism 1994. link 63 Gøtzsche CO, Krag-Olsen B, Nielsen J, Sørensen KE, Kristensen BO. Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome. Archives of disease in childhood 1994. link 64 de Kerdanet M, Lucas J, Lemee F, Lecornu M. Turner's syndrome with X-isochromosome and Hashimoto's thyroiditis. Clinical endocrinology 1994. link 65 Tanaka Y, Sasaki Y, Tachibana K, Maesaka H, Imaizumi K, Nishihira H et al.. Gonadal mixed germ cell tumor combined with a large hemangiomatous lesion in a patient with Turner's syndrome and 45,X/46,X, +mar karyotype. Archives of pathology & laboratory medicine 1994. link 66 De Schepper J, Craen M, Massa G, Heinrichs C, Maes M, Du Caju M et al.. Growth hormone therapy in Turner's syndrome: one versus two daily injections. The Journal of clinical endocrinology and metabolism 1994. link 67 Vockrodt L, Williams JK. A reproductive option for women with Turner's syndrome. Journal of pediatric nursing 1994. link 68 Mehta AV, Chidambaram B, Suchedina AA, Garrett AR. Radiologic abnormalities of the sternum in Turner's syndrome. Chest 1993. link 69 Reiss AL, Freund L, Plotnick L, Baumgardner T, Green K, Sozer AC et al.. The effects of X monosomy on brain development: monozygotic twins discordant for Turner's syndrome. Annals of neurology 1993. link 70 Motohashi O, Shirane R, Ogawa A, Yoshimoto T. Tethered cord syndrome associated with male Turner's syndrome. Surgical neurology 1993. link90172-w) 71 Bourguignon JP, Gérard A, Deby-Dupont G, Franchimont P. Effects of growth hormone therapy on the developmental changes of follicle stimulating hormone and insulin-like growth factor-I serum concentrations in Turner's syndrome. Clinical endocrinology 1993. link 72 van Teunenbroek A, de Muinck Keizer-Schrama SM, Stijnen T, Mouton JW, Blum WF, Mercado M et al.. Effect of growth hormone administration frequency on 24-hour growth hormone profiles and levels of other growth related parameters in girls with Turner's syndrome. Dutch Working Group on Growth Hormone. Clinical endocrinology 1993. link 73 Kocova M, Siegel SF, Wenger SL, Lee PA, Trucco M. Detection of Y chromosome sequences in Turner's syndrome by Southern blot analysis of amplified DNA. Lancet (London, England) 1993. link91345-m) 74 Kamp GA, Kuilboer MM, Wynne HJ, Rongen-Westerlaken C, Johnson ML, Veldhuis JD et al.. Slow baseline growth and a good response to growth hormone (GH) therapy are related to elevated spontaneous GH pulse frequency in girls with Turner's syndrome. The Journal of clinical endocrinology and metabolism 1993. link 75 Pásaro Méndez EJ, Fernández RM, Goyanes V, Méndez J. Turner's syndrome: a behavioral and cytogenetic study. The Journal of genetic psychology 1993. link 76 Massa G, Bouillon R, Vanderschueren-Lodeweyckx M. Serum growth hormone (GH)-binding protein and insulin-like growth factor-I levels in Turner's syndrome before and during treatment with recombinant human GH and ethinyl estradiol. The Journal of clinical endocrinology and metabolism 1992. link 77 Rosenfeld RG. Growth hormone therapy in Turner's syndrome: an update on final height. Genentech National Cooperative Study Group. Acta paediatrica (Oslo, Norway : 1992). Supplement 1992. link 78 O'Shea D, Powell D. Growth hormone therapy in Turner's syndrome. Irish medical journal 1992. link 79 Rogers PA, Murphy CR, Leeton J, Hoise MJ, Beaton L. Turner's syndrome patients lack tight junctions between uterine epithelial cells. Human reproduction (Oxford, England) 1992. link 80 Saggese G, Federico G, Bertelloni S, Baroncelli GI. Mineral metabolism in Turner's syndrome: evidence for impaired renal vitamin D metabolism and normal osteoblast function. The Journal of clinical endocrinology and metabolism 1992. link 81 Zadik Z, Landau H, Chen M, Altman Y, Lieberman E. Assessment of growth hormone (GH) axis in Turner's syndrome using 24-hour integrated concentrations of GH, insulin-like growth factor-I, plasma GH-binding activity, GH binding to IM9 cells, and GH response to pharmacological stimulation. The Journal of clinical endocrinology and metabolism 1992. link 82 Wit JM, Massarano AA, Kamp GA, Hindmarsh PC, van Es A, Brook CG et al.. Growth hormone secretion in patients with Turner's syndrome as determined by time series analysis. Acta endocrinologica 1992. link 83 Gerver WJ, Drayer NM, van Es A. Does growth hormone treatment of patients with Turner's syndrome cause an abnormal body shape?. Acta paediatrica (Oslo, Norway : 1992) 1992. link 84 Karlberg J, Albertsson-Wikland K, Nilsson KO, Ritzén EM, Westphal O. Growth in infancy and childhood in girls with Turner's syndrome. Acta paediatrica Scandinavica 1991. link 85 Sylvén L, Hagenfeldt K, Bröndum-Nielsen K, von Schoultz B. Middle-aged women with Turner's syndrome. Medical status, hormonal treatment and social life. Acta endocrinologica 1991. link 86 Lu PW, Cowell CT, Jimenez M, Simpson JM, Silink M. Effect of obesity on endogenous secretion of growth hormone in Turner's syndrome. Archives of disease in childhood 1991. link 87 Ross JL, Long LM, Feuillan P, Cassorla F, Cutler GB. Normal bone density of the wrist and spine and increased wrist fractures in girls with Turner's syndrome. The Journal of clinical endocrinology and metabolism 1991. link 88 Mauras N, Rogol AD, Veldhuis JD. Estrogenic modulation of the gonadotropin-releasing hormone-stimulated secretory activity of the gonadotrope and lactotrope in prepubertal females with Turner's syndrome. The Journal of clinical endocrinology and metabolism 1991. link 89 Reschini E, D'Alberton A, Catania A, Motta T. Growth hormone and ACTH secretory dynamics in Turner's syndrome. Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 1990. link 90 Ghizzoni L, Lamborghini A, Ziveri M, Volta C, Panza C, Balestrazzi P et al.. Pulsatile growth hormone release in Turner's syndrome and short normal children. Acta endocrinologica 1990. link 91 Lanes R, Brito S, Suniaga M, Moncada G, Borges M. Growth hormone secretion in pubertal age patients with Turner's syndrome. The Journal of clinical endocrinology and metabolism 1990. link 92 Bergmann P, Valsamis J, Van Perborgh J, De Schepper J, Van Vliet G. Comparative study of the changes in insulin-like growth factor-I, procollagen-III N-terminal extension peptide, bone Gla-protein, and bone mineral content in children with Turner's syndrome treated with recombinant growth hormone. The Journal of clinical endocrinology and metabolism 1990. link 93 Miller LB, Kanter M, Wolfort F. Treatment of webbed neck in Turner's syndrome with tissue expansion. Annals of plastic surgery 1990. link 94 Orten JL. Coming up short: the physical, cognitive, and social effects of Turner's syndrome. Health & social work 1990. link 95 Mauras N, Rogol AD, Veldhuis JD. Increased hGH production rate after low-dose estrogen therapy in prepubertal girls with Turner's syndrome. Pediatric research 1990. link 96 Moore JW, Kirby WC, Rogers WM, Poth MA. Partial anomalous pulmonary venous drainage associated with 45,X Turner's syndrome. Pediatrics 1990. link 97 Naeraa RW, Nielsen J, Pedersen IL, Sørensen K. Effect of oxandrolone on growth and final height in Turner's syndrome. Acta paediatrica Scandinavica 1990. link 98 Takano K, Shizume K, Hibi I. Treatment of 94 patients with Turner's syndrome with recombinant human growth hormone (SM-9500) for two years--the results of a multicentric study in Japan. Committee for the Treatment of Turner's Syndrome. Endocrinologia japonica 1989. link 99 Akasaka T, Mitsuishi T, Nakajima H, Suzuki R, Shimizu S. Aneurysm of the left subclavian artery associated with Turner's syndrome. Successful surgical treatment. The Journal of cardiovascular surgery 1989. link 100 Watkin PM. Otological disease in Turner's syndrome. The Journal of laryngology and otology 1989. link