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References
- A syndrome of infantilism, congenital webbed neck and cubitus valgus.Endocrinology. 1938; 23: 566
- Turner’s syndrome and status Bonnevie-Ullrich.Am J Hum Genet. 1949; 1: 179
- A morphological distinction between neurons of the male and female and the behavior of the nucleolar satellite during accelerated nucleo-protein synthesis.Nature. 1949; 163: 676
- Turner’s syndrome: Index case after 44 years (a tribute to Dr. Henry H. Turner).K Clin Endocrinol Metab. 1978; 46: 163
- Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.J Clin Endocrinol Metab. 2007; 92: 10
- Prenatal and postnatal prevalence of Turner’s syndrome: a registry study.BMJ. 1996; 312: 16-21
- Ascertainment bias in Turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life.Pediatrics. 2004; 114: 640
- The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype.Am J Hum Genet. 1991; 48: 682
- Karyotype-Phenotype correlations in gonadal dysgenesis and their bearing on the pathogenesis of malformations.J Med Genet. 1965; 2: 142
- Gonadal dysgenesis and abnormalities of the human sex chromosomes: current status of phenotypic-karyotypic correlations.Birth Defects Orig Artic Ser. 1975; 11: 23
- Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?.Hum Genet. 1992; 88: 288
- Nested polymerase chain reaction study of 53 cases with Turner’s syndrome: is cytogenetically undetected Y mosaicism common?.J Clin Endocrinol Metab. 2008; 93: 2109
- Reduced abdominal adiposity and improved glucose tolerance in growth hormone-treated girls with Turner syndrome.J Clin Endocrinol Metab. 2008; 93: 2109
- Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome.Nat Genet. 1997; 16: 54
- Phenotypes Associated with SHOX Deficiency.J Clin Endocrinol Metab. 2001; 86: 5674
- The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.J Pediatr. 2005; 147: 499
- High incidence of SHOX anomalies in individuals with short stature.J Med Genet. 2006; 43: 735
- Turner’s syndrome.N Engl J Med. 2004; 351: 1227
- Association between fetal lymphedema and congenital cardiovascular defects in Turner syndrome.Pediatrics. 2005; 115: 732
- Neck web and congenital heart defects: a pathogenic association in 45 X-O Turner syndrome?.Teratology. 1984; 29: 355
- Congenital heart disease in patients with Turner’s syndrome. Italian Study Group for Turner Syndrome (ISGTS).J Pediatr. 1998; 133: 688
- Turner syndrome in childhood and adolescence.Expert Rev Endocrinol Metab. 2008; 3: 771
- Structural anomalies of the X chromosome: personal observation and review of non-mosaic cases.Clin Genet. 1982; 21: 145
- Screening of Y chromosome microdeletions in 46, XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants.BMC Med Genet. 2013; 14: 115
- Delayed diagnoses of Turner’s syndrome: proposed guidelines for change.J Pediatr. 2000; 137: 455
- Turner syndrome: spontaneous growth in 150 cases and review of the literature.Eur J Pediatr. 1983; 141: 81
- Growth in children with 45,XO Turner’s syndrome.Arch Dis Child. 1974; 49: 789
- Middle-aged women with Turner’s syndrome. Medical status, hormonal treatment and social life.Acta Endocrinol (Copenh). 1991; 125: 359
- Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome.J Clin Endocrinol Metab. 2011; 96: E1517
- Hormone replacement therapy may improve hepatic function in women with Turner’s syndrome.Clin Endocrinol (Oxf). 2001; 55: 227
- Elevated liver enzymes in Turner syndrome during a 5-year follow-up study.Clin Endocrinol (Oxf). 2008; 68: 568
- Autoimmune disorders in women with turner syndrome and women with karyotypically normal primary ovarian insufficiency.J Autoimmun. 2012; 38: 315
- Autoimmune hypothyroidism and hyperthyroidism in patients with Turner’s syndrome.Eur J Endocrinol. 1996; 134: 568
- Adulthood in women with Turner syndrome.Horm Res. 2003; 59: 211
- Spontaneous pubertal development in Turner’s syndrome. Italian Study Group for Turner’s Syndrome.J Clin Endocrinol Metab. 1997; 82: 1810
- Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience.Fertil Steril. 2011; 95: 2251
- Clinical manifestations and diagnosis of Turner syndrome (gonadal dysgenesis).UpToDate. 2015;
- The anatomy and histology of XO human embryos and fetuses.Anat Rec. 1966; 155: 369
- Ovarian ultrasound appearances in Turner syndrome.J Pediatr. 1989; 114: 568
- Pregnancy and the Turner syndrome.Obstet Gynecol. 1978; 52: 617
- Fertility in women with gonadal dysgenesis.Am J Obstet Gynecol. 1976; 126: 668
- Morbidity in Turner syndrome.J Clin Epidemiol. 1998; 51: 147
- The spectrum of congenital heart disease and outcomes after surgical repair among children with Turner syndrome: a single-center review.Pediatr Cardiol. 2014; 35: 253
- Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features.Circulation. 2004; 110: 1694
- Prevalence of cardiovascular malformations and association with karyotypes in Turner’s syndrome.Arch Dis Child. 1994; 71: 433
- Hypertension is a major risk factor for aortic root dilatation in women with Turner’s syndrome.Clin Endocrinol (Oxf). 2001; 54: 69
- Aortic valve disease in Turner syndrome.J Am Coll Cardiol. 2008; 51: 1904
- Evaluation by magnetic resonance imaging of aortic dilatation and coarctation in adult Turner syndrome patients.Clin Endocrinol (Oxf). 2006; 65: 154
- Further delineation of aortic dilation, dissection, and rupture in patients with Turner syndrome.Pediatrics. 1998; 102: e12
- Aortic dilatation and dissection in Turner syndrome.Circulation. 2007; 116: 1663
- Moderate aortic enlargement and bicuspid aortic valve are associated with aortic dissection in Turner syndrome: report of the international turner syndrome aortic dissection registry.Circulation. 2012; 126: 2220
- Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national survey.Fertil Steril. 2003; 80: 498
- Increased maternal cardiovascular mortality associated with pregnancy in women with Turner syndrome.Fertil Steril. 2006; 86: S127
- The influence of renal and cardiovascular abnormalities on blood pressure in Turner syndrome.Clin Endocrinol (Oxf). 2000; 52: 371
- Cardiac malformations and hypertension, but not metabolic risk factors, are common in Turner syndrome.J Clin Endocrinol Metab. 2001; 86: 4166
- Improving detection of hypertension in girls with turner syndrome using ambulatory blood pressure monitoring.Horm Res Paediatr. 2014; 81: 25
- Prolongation of the cardiac QTc interval in Turner syndrome.Medicine (Baltimore). 2006; 85: 75
- Investigation of cardiac status and bone mineral density in Turner syndrome.Growth Horm IGF Res. 2006; 16: S103
- Prolonged rate-corrected QT interval and other electrocardiogram abnormalities in girls with Turner syndrome.Pediatrics. 2006; 118e1220
- QTc interval prolongation in children with Turner syndrome: the results of exercise testing and 24-h ECG.Eur J Pediatr. 2009; 168: 59
- Vasculopathy in Turner syndrome: arterial dilatation and intimal thickening without endothelial dysfunction.J Clin Endocrinol Metab. 2005; 90: 5161
- Turner syndrome and osteoporosis: mechanisms and prognosis.Pediatrics. 1998; 102: 481
- Increased fracture rates in Turner’s syndrome: a nationwide questionnaire survey.Clin Endocrinol (Oxf). 2003; 59: 89
- Osteoporosis and fractures in Turner syndrome- importance of growth promoting and oestrogen therapy.Clin Endocrinol (Oxf). 1999; 51: 497
- Bone mineral density and fractures in Turner syndrome.Am J Med. 2003; 115: 259
- Selective reduction in cortical bone mineral density in turner syndrome independent of ovarian hormone deficiency.J Clin Endocrinol Metab. 2003; 88: 5717
- Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study.J Clin Endocrinol Metab. 2000; 85: 3199
- Cancer incidence in women with Turner syndrome in Great Britain: a national cohort study.Lancet Oncol. 2008; 9: 239
- Turner’s syndrome.Lancet. 2001; 358: 2169
- Ocular findings in Turner syndrome. A prospective study.Ophthalmology. 1984; 91: 926
- Ocular manifestations of Turner’s syndrome.Trans Ophthalmol Soc U K. 1981; 101: 395
- Turner’s syndrome associated with bilateral retinal detachments.Am J Ophthalmol. 1996; 122: 742
- Autoimmune thyroid syndrome in women with Turner’s syndrome—the association with karyotype.Clin Endocrinol (Oxf). 2001; 55: 223
- Hypothyroidism is common in turner syndrome: results of a five-year follow-up.J Clin Endocrinol Metab. 2005; 90: 2131
- Prevalence and clinical picture of celiac disease in Turner syndrome.J Clin Endocrinol Metab. 1991; 87: 85495
- Insulin resistance: an early metabolic defect of Turner’s syndrome.J Clin Endocrinol Metab. 1991; 72: 832
- Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter study.JAMA Dermatol. 2013; 149: 559
- Pilomatricomas in Turner syndrome.Pediatr Dermatol. 2008; 25: 449
- Multiple pilomatrixoma in Turner syndrome.Ophthal Plast Reconstr Surg. 2009; 25: 229
- Halo nevus, rather than vitiligo, is a typical dermatologic finding of Turner ’s syndrome: clinical, genetic, and immunogenetic study in 72 patients.J Am Acad Dermatol. 2004; 51: 354
- Turner’s syndrome in dermatology.J Am Acad Dermatol. 2004; 50: 767
- Hearing impairment in Turner’s syndrome.Acta Otolaryngol Suppl. 1969; 247: 1
- Analysis of auditory phenotype and karyotype in 200 females with Turner syndrome.Ear Hear. 2007; 28: 831-841
- The influence of karyotype on the auricle, otitis media and hearing in Turner syndrome.Hear Res. 1999; 138: 163-170
- Otological problems in children with Turner’s syndrome.Hear Res. 1998; 124: 85-90
- Otologic disease in Turner syndrome.Otol Neurotol. 2005; 26: 145-150
- Liver abnormalities in Turner syndrome.Eur J Pediatr. 1999; 158: 618-623
- Liver dysfunction in Turner’s syndrome: prevalence, natural history, and effect of exogenous oestrogen.Clin Endocrinol. 2008; 69: 306-310
- Effect of oestrogen/gestagen replacement therapy on liver enzymes in patients with Ullrich-Turner syndrome.Eur J Pediatr. 1995; 154: 807-810
- Turner syndrome in childhood and adolescence.Expert Rev Endocrinol Metab. 2008; 3: 771-775
- Liver involvement in Turner syndrome.Liver Int. 2013; 33: 24-30
- Growth hormone therapy of Turner’s syndrome: beneficial effect on adult height.J Pediatr. 1998; 132: 319-324
- Normalization of height in girls with Turner syndrome after long-term growth hormone treatment: results of a randomized dose-response trial.J Clin Endocrinol Metab. 1999; 84: 4607-4612
- Impact of growth hormone supplementation on adult height in turner syndrome: results of the Canadian randomized controlled trial.J Clin Endocrinol Metab. 2005; 90: 3360-3366
- Growth hormone treatment of early growth failure in toddlers with Turner syndrome a randomized, controlled, multicenter trial.J Clin Endocrinol Metab. 2007; 92: 3406-3416
- Growth hormone plus childhood low-dose estrogen in Turner’s syndrome.N Engl J Med. 2011; 364: 1230-1242
- Growth hormone therapy of Turner syndrome: the impact of age of estrogen replacement on final height. Genentech, Inc., Collaborative Study Group.J Clin Endocrinol Metab. 2000; 85: 2439-2445
- Prediction of long-term response to recombinant human growth hormone in Turner syndrome: development and validation of mathematical models. KIGS International Board. Kabi international Growth Study.J Clin Endocrinol Metab. 2000; 85: 4212-4218
- Long-term safety of recombinant human growth hormone in Turner syndrome.J Clin Endocrinol Metab. 2008; 93: 344-351
- Body proportions during long-term growth hormone treatment in girls with Turner syndrome participating in a randomized dose-response trial.J Clin Endocrinol Metab. 1999; 84: 4622-4628
- Reduced abdominal adiposity and improved glucose tolerance in growth hormone-treated girls with Turner syndrome.J Clin Endocrinol Metab. 2008; 93: 2109-2114
- Growth hormone treatment and left ventricular dimensions in Turner syndrome.J Pediatr. 2007; 150: 587-591
- Growth hormone treatment and aortic dimensions in Turner syndrome.J Clin Endocrinol Metab. 2006; 91: 1785-1788
- The effects of growth hormone treatment on bone mineral density and body composition in girls with Turner syndrome.J Clin Endocrinol Metab. 2006; 91: 4302-4305
- Prospective study confirms oxandrolone-associated improvement in height in growth hormone-treated adolescent girls with Turner syndrome.Horm Res Paediatr. 2011; 75: 38-46
- Effect of oxandrolone and timing of pubertal induction on final height in Turner’s syndrome: randomized, double blind, placebo controlled trial.BMJ. 2011; 342: d1980
- Long-acting growth hormone: an update.Endocr Dev. 2016; 30: 79-97
- The current state of long-acting growth hormone preparations for growth hormone therapy.Curr Opin Endocrinol Diabetes Obes. 2018; 25: 267-273
- Growth Hormone Research Society perspective on the development of long-acting growth hormone preparations.Eur J Endocrinol. 2016; 174: C1-C8
- Growth hormone therapy in children; research and practice—A review.Growth Horm IGF Res. 2019; 44: 20-32
- Serum levels of anti-Mullerian hormone as a marker of ovarian function in 926 healthy females from birth to adulthood and in 172 Turner syndrome patients.J Clin Endocrinol Metab. 2010; 95: 5003-5010
- Turner Syndrome Study Group. Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group.J Clin Endocrinol Metab. 2007; 92: 10-25
- Bone mineral density and fractures in Turner syndrome.Am J Med. 2003; 115: 257-262
- The importance of estrogen replacement in young women with turner syndrome.J Women’s Health (Larchmt). 2003; 12: 971-977
- Selective reduction in cortical bone mineral density in Turner syndrome independent of ovarian hormone deficiency.J Clin Endocrinol Metab. 2003; 88: 5717-5722
- Ovarian function and in vitro fertilization (IVF) in Turner syndrome.Pediatr Endocrinol Rev. 2012; 9: 713-717
- Risks of pregnancy for women with Turner syndrome.Expert Rev Obstet Gynecol. 2011; 6: 217-227
- Careful cardiovascular screening and follow-up of women with Turner syndrome before and during pregnancy is necessary to prevent maternal mortality.Fertil Steril. 2009; 91: 929 e5-e7
- Cognitive development of unselected girls with complete and partial X monosomy.Pediatrics. 1984; 73: 175
- Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes.Proc Natl Acad Sci U S A. 1993; 90: 12025
- A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients.J Med Genet. 1994; 31: 528
- Psychosocial development in adolescents with Turner syndrome.J Dev Behav Pediatr. 2001; 22: 360
- Evidence from Turner’s syndrome of an imprinted X-linked locus affecting cognitive function.Nature. 1997; 387: 705
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Published online: June 17, 2022
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