M. B. Ranke and P. Saenger, Turner's syndrome. The Lancet. 28 juill, vol.358, pp.309-323, 2001.

V. P. Sybert and E. Mccauley, Turner's Syndrome, N Engl J Med. 16 sept, vol.351, issue.12, pp.1227-1265, 2004.

C. H. Gravholt, N. H. Andersen, G. S. Conway, O. M. Dekkers, M. E. Geffner et al., Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting, Eur J Endocrinol. sept, vol.177, issue.3, pp.1-70, 2017.

M. David and M. Nicolino, Historique et iconographie du syndrome de Turner

H. R. Wiedemann and J. Glatzl, Follow-up of Ullrich's original patient with « Ullrich-Turner » syndrome, Am J Med Genet, vol.41, issue.1, pp.134-140, 1991.

H. Turner, Classic pages in Obstetrics and Gynecology -A syndrome of infantilism, congenital webbed neck, and cubitus valgus, Am J Obstet Gynecol. 15 mars, vol.113, issue.2, p.722, 1972.

C. E. Ford, K. W. Jones, P. E. Polani, J. Almeida, and J. H. Briggs, A sex-chromosome anomaly in a case of gonadal dysgenesis (Turner's Syndrome). The Lancet. 4 avr 1959, vol.273, pp.711-714

C. H. Gravholt, Epidemiological, endocrine and metabolic features in Turner syndrome, Eur J Endocrinol. 12 janv, vol.151, issue.6, pp.657-87, 2004.

J. Nielsen and M. Wohlert, Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. mai, vol.87, issue.1, pp.81-84, 1991.

N. P. Iyer, D. F. Tucker, S. H. Roberts, M. Moselhi, M. Morgan et al., Outcome of fetuses with Turner syndrome: a 10-year congenital anomaly register based study, J Matern-Fetal Neonatal Med Off J Eur Assoc Perinat Med Fed Asia Ocean Perinat Soc Int Soc Perinat Obstet. janv, vol.25, issue.1, pp.68-73, 2012.

N. Baena, D. Vigan, C. Cariati, E. Clementi, M. Stoll et al., Turner syndrome: evaluation of prenatal diagnosis in 19 European registries, Am J Med Genet A. 15 août, vol.129, issue.1, pp.16-20, 2004.

C. H. Gravholt, S. Juul, R. W. Naeraa, and J. Hansen, Prenatal and postnatal prevalence of Turner's syndrome: a registry study, BMJ. 6 janv, vol.312, issue.7022, pp.16-21, 1996.

T. Power, N. Langlois, and R. W. Byard, The Forensic Implications of Turner's Syndrome, J Forensic Sci. 1 mai, vol.59, issue.3, pp.671-676, 2014.

E. B. Hook and D. Warburton, The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism, Hum Genet, vol.64, issue.1, pp.24-31, 1983.

T. Kajii, A. Ferrier, N. Niikawa, H. Takahara, K. Ohama et al., Anatomic and chromosomal anomalies in 639 spontaneous abortuses, Hum Genet, vol.55, issue.1, pp.87-98, 1980.

M. T. Ross, D. V. Grafham, A. J. Coffey, S. Scherer, K. Mclay et al., The DNA sequence of the human X chromosome, Nature. mars, vol.434, issue.7031, pp.325-362, 2005.

C. Ravel and J. Siffroi, Anomalies de structure du chromosome Y et syndrome de Turner, Gynécologie Obstétrique Fertil. 1 juin, vol.37, issue.6, pp.511-519, 2009.

H. Mangs, A. Morris, and B. J. , The Human Pseudoautosomal Region (PAR): Origin, Function and Future, Curr Genomics. avr, vol.8, issue.2, pp.129-165, 2007.

E. Rao, B. Weiss, M. Fukami, A. Rump, B. Niesler et al., Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome, Nat Genet. mai, vol.16, issue.1, pp.54-63, 1997.

L. C. Layman, Human gene mutations causing infertility, J Med Genet. mars, vol.39, issue.3, pp.153-61, 2002.

Q. Zhong and L. C. Layman, Genetic Considerations in the Patient with Turner Syndrome-45,X with or without Mosaicism. Fertil Steril, vol.98, pp.775-784, 2012.

T. Ogata and N. Matsuo, Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features, Hum Genet. juin, vol.95, issue.6, pp.607-636, 1995.

M. J. Machiela, W. Zhou, E. Karlins, J. N. Sampson, N. D. Freedman et al., Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome, Nat Commun. 13 juin, vol.7, p.11843, 2016.

E. B. Hook and D. Warburton, Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss, Hum Genet. avr, vol.133, issue.4, pp.417-441, 2014.

K. R. Held, S. Kerber, E. Kaminsky, S. Singh, P. Goetz et al., Mosaicism in 45,X Turner syndrome: does survival in early pregnancy depend on the presence of two sex chromosomes?, Hum Genet. janv, vol.88, issue.3, pp.288-94, 1992.

L. M. Russell, P. Strike, C. E. Browne, and P. A. Jacobs, X chromosome loss and ageing, Cytogenet Genome Res, vol.116, issue.3, pp.181-186, 2007.

C. J. Brown, A. Ballabio, J. L. Rupert, R. G. Lafreniere, M. Grompe et al., A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome, Nature. 3 janv, vol.349, issue.6304, pp.38-44, 1991.

A. R. Zinn, D. C. Page, and E. Fisher, Turner syndrome: the case of the missing sex chromosome, Trends Genet. 1 mars, vol.9, issue.3, pp.90-93, 1993.

A. Mathur, L. Stekol, D. Schatz, N. K. Maclaren, M. L. Scott et al., The parental origin of the single X chromosome in Turner syndrome: lack of correlation with parental age or clinical phenotype, Am J Hum Genet. avr, vol.48, issue.4, pp.682-688, 1991.

R. Caquet and . Caryotype, In: Caquet R, éditeur. 250 examens de laboratoire (Onzième Édition), 2010.

D. J. Wolff, D. Dyke, and C. M. Powell, Laboratory guideline for Turner syndrome, Genet Med. janv, vol.12, issue.1, pp.52-57, 2010.

C. A. Bondy, Care of Girls and Women with Turner Syndrome: A Guideline of the Turner Syndrome Study Group, J Clin Endocrinol Metab. 1 janv, vol.92, issue.1, pp.10-25, 2007.

K. A. Leppig and C. M. Disteche, Ring X and other structural X chromosome abnormalities: X inactivation and phenotype, Semin Reprod Med. juin, vol.19, issue.2, pp.147-57, 2001.

L. Mazzanti, A. Cicognani, L. Baldazzi, R. Bergamaschi, E. Scarano et al., Gonadoblastoma in Turner syndrome and Y-chromosome-derived material, Am J Med Genet A. 1 juin, vol.135, issue.2, pp.150-154, 2005.

K. Freriks, H. Timmers, R. T. Netea-maier, C. Beerendonk, B. J. Otten et al., Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome, Eur J Med Genet. 1 sept, vol.56, issue.9, pp.497-501, 2013.

C. E. Chu, J. M. Connor, M. D. Donaldson, C. J. Kelnar, P. J. Smail et al., Detection of Y mosaicism in patients with Turner's syndrome, J Med Genet. juill, vol.32, issue.7, pp.578-80, 1995.

J. G. Hall, Detection of Y-specific sequences in patients with Turner syndrome, Am J Med Genet, vol.113, issue.1, p.114, 2002.

A. K. Bartmann, E. S. Ramos, L. C. Caetano, A. Rios, and R. A. Vila, TSPY detection in blood, buccal, and urine cells of patients with 45,X karyotype, Am J Med Genet A, vol.130, issue.3, pp.320-321, 2004.

S. A. Nazarenko, V. A. Timoshevsky, and N. N. Sukhanova, High frequency of tissue-specific mosaicism in Turner syndrome patients, Clin Genet. juill, vol.56, issue.1, pp.59-65, 1999.

I. Noordman, A. Duijnhouwer, L. Kapusta, M. Kempers, N. Roeleveld et al., Phenotype in girls and women with Turner syndrome: Association between dysmorphic features, karyotype and cardio-aortic malformations, Eur J Med Genet. juin, vol.61, issue.6, pp.301-307, 2018.

M. B. Ranke and M. L. Grauer, Adult height in Turner syndrome: results of a multinational survey 1993, Horm Res, vol.42, issue.3, pp.90-94, 1994.

A. M. Pasquino, F. Passeri, I. Pucarelli, M. Segni, and G. Municchi, Spontaneous Pubertal Development in Turner's Syndrome, J Clin Endocrinol Metab. 1 juin, vol.82, issue.6, pp.1810-1813, 1997.

L. Even, A. Cohen, N. Marbach, M. Brand, R. Kauli et al., Longitudinal analysis of growth over the first 3 years of life in Turner's syndrome, J Pediatr, vol.137, issue.4, pp.460-464, 2000.

M. L. Davenport, N. Punyasavatsut, P. W. Stewart, D. F. Gunther, L. Sävendahl et al., Growth failure in early life: an important manifestation of Turner syndrome, Horm Res, vol.57, issue.5-6, pp.157-64, 2002.

J. Karlberg, K. Albertsson-wikland, K. O. Nilsson, E. M. Ritzén, and O. Westphal, Growth in infancy and childhood in girls with Turner's syndrome, Acta Paediatr Scand. déc, vol.80, issue.12, pp.1158-65, 1991.

J. Woelfle, A. Lindberg, F. Aydin, K. K. Ong, C. Camacho-hubner et al., Secular Trends on Birth Parameters, Growth, and Pubertal Timing in Girls with Turner Syndrome, Clin Endocrinol (Oxf), vol.48, issue.5, pp.744-51

S. Kirsch, B. Weiss, K. Schön, and G. A. Rappold, The definition of the Y chromosome growth-control gene (GCY) critical region: relevance of terminal and interstitial deletions, J Pediatr Endocrinol Metab JPEM. déc, vol.15, issue.5, pp.1295-300, 2002.

L. Baxter, J. Bryant, C. B. Cave, and R. Milne, Recombinant growth hormone for children and adolescents with Turner syndrome, Cochrane Database Syst Rev. 24 janv, issue.1, p.3887, 2007.

A. Linglart, S. Cabrol, P. Berlier, C. Stuckens, K. Wagner et al., Growth hormone treatment before the age of 4 years prevents short stature in young girls with Turner syndrome, Eur J Endocrinol. juin, vol.164, issue.6, pp.891-898, 2011.

T. G. Baker, A quantitative and cytological study of germ cells in human ovaries, Proc R Soc Lond B Biol Sci, vol.22, pp.417-450, 1963.

L. Weiss, Additional evidence of gradual loss of germ cells in the pathogenesis of streak ovaries in Turner's syndrome, J Med Genet. déc, vol.8, issue.4, pp.540-544, 1971.

D. N. Modi, S. Sane, and D. Bhartiya, Accelerated germ cell apoptosis in sex chromosome aneuploid fetal human gonads, MHR Basic Sci Reprod Med. 1 avr, vol.9, issue.4, pp.219-244, 2003.

D. Vos, M. Devroey, P. Fauser, and B. C. , Primary ovarian insufficiency. The Lancet. 17 sept, vol.376, pp.911-932, 2010.

J. G. Hreinsson, M. Otala, M. Fridström, B. Borgström, C. Rasmussen et al., Follicles are found in the ovaries of adolescent girls with Turner's syndrome, J Clin Endocrinol Metab. août, vol.87, issue.8, pp.3618-3641, 2002.

V. K. Bakalov, T. Shawker, I. Ceniceros, and C. A. Bondy, Uterine development in Turner syndrome, J Pediatr, vol.151, issue.5, p.1, 2007.

L. Webber, M. Davies, R. Anderson, J. Bartlett, D. Braat et al., Guideline: management of women with premature ovarian insufficiency, Hum Reprod. 1 mai, vol.31, issue.5, pp.926-963, 2016.

O. Hovatta, Pregnancies in women with Turner's syndrome, Ann Med. avr, vol.31, issue.2, pp.106-116, 1999.

T. N. Hadnott, H. N. Gould, A. M. Gharib, and C. A. Bondy, Outcomes of spontaneous and assisted pregnancies in Turner syndrome: the U.S. National Institutes of Health experience, Fertil Steril. juin, vol.95, issue.7, pp.2251-2257, 2011.

N. H. Birkebaek, D. Crüger, J. Hansen, J. Nielsen, and G. Bruun-petersen, Fertility and pregnancy outcome in Danish women with Turner syndrome, Clin Genet. janv, vol.61, issue.1, pp.35-44, 2002.

I. Bryman, L. Sylvén, K. Berntorp, E. Innala, I. Bergström et al., Pregnancy rate and outcome in Swedish women with Turner syndrome, Fertil Steril. 30 juin, vol.95, issue.8, pp.2507-2517, 2011.

V. Bernard, B. Donadille, D. Zenaty, C. Courtillot, S. Salenave et al., Spontaneous fertility and pregnancy outcomes amongst 480 women with Turner syndrome, Hum Reprod Oxf Engl. avr, vol.31, issue.4, pp.782-790, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01473964

L. Tarani, S. Lampariello, G. Raguso, F. Colloridi, I. Pucarelli et al., Pregnancy in patients with Turner's syndrome: six new cases and review of literature, Gynecol Endocrinol Off J Int Soc Gynecol Endocrinol. avr, vol.12, issue.2, pp.83-90, 1998.

A. Gawlik, M. Hankus, K. Such, A. Drosdzol-cop, P. Madej et al., Hypogonadism and Sex Steroid Replacement Therapy in Girls with Turner Syndrome, J Pediatr Adolesc Gynecol. déc, vol.29, issue.6, pp.542-50, 2016.

K. Freriks, J. Timmermans, C. Beerendonk, C. M. Verhaak, R. T. Netea-maier et al., Standardized multidisciplinary evaluation yields significant previously undiagnosed morbidity in adult women with Turner syndrome, J Clin Endocrinol Metab. sept, vol.96, issue.9, pp.1517-1526, 2011.

P. Bösze, A. Tóth, and M. Török, Hormone replacement and the risk of breast cancer in Turner's syndrome, N Engl J Med. 14 déc, vol.355, issue.24, pp.2599-600, 2006.

A. Ackermann and V. Bamba, Current controversies in turner syndrome: Genetic testing, assisted reproduction, and cardiovascular risks, J Clin Transl Endocrinol. 5 juin, vol.1, issue.3, pp.61-66, 2014.

A. Rojek, M. Obara-moszynska, Z. Kolesinska, B. Rabska-pietrzak, and M. Niedziela, Molecular Detection and Incidence of Y Chromosomal Material in Patients with Turner Syndrome, Sex Dev, vol.11, issue.5-6, pp.254-61, 2017.

M. L. Dendrinos, N. Smorgick, C. A. Marsh, Y. R. Smith, and E. H. Quint, Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism, J Pediatr Adolesc Gynecol. 1 juin, vol.28, issue.3, pp.192-197, 2015.

L. Hanson, I. Bryman, M. L. Barrenäs, P. O. Janson, J. Wahlström et al., Genetic analysis of mosaicism in 53 women with Turner syndrome, Hereditas, vol.134, issue.2, pp.153-162, 2001.

A. Bispo, P. Burégio-frota, L. Oliveira-dos-santos, G. F. Leal, A. R. Duarte et al., Y chromosome in Turner syndrome: detection of hidden mosaicism and the report of a rare X;Y translocation case, Reprod Fertil Dev, vol.26, issue.8, pp.1176-82, 2014.

K. Shankar, R. Inge, T. H. Gutmark-little, I. Backeljauw, and P. F. , Oophorectomy versus salpingooophorectomy in Turner syndrome patients with Y-chromosome material: clinical experience and current practice patterns assessment, J Pediatr Surg, vol.49, issue.11, pp.1585-1593, 2014.

K. H. Mortensen, N. H. Andersen, and C. H. Gravholt, Cardiovascular Phenotype in Turner Syndrome-Integrating Cardiology, Genetics, and Endocrinology. Endocr Rev, vol.33, issue.5, pp.677-714, 2012.

M. J. Schoemaker, A. J. Swerdlow, C. D. Higgins, A. F. Wright, and P. A. Jacobs, Mortality in Women with Turner Syndrome in Great Britain: A National Cohort Study, J Clin Endocrinol Metab. 1 déc, vol.93, issue.12, pp.4735-4777, 2008.

B. Donadille, A. Rousseau, D. Zenaty, S. Cabrol, C. Courtillot et al., Cardiovascular findings and management in Turner syndrome: insights from a French cohort, Eur J Endocrinol, vol.167, issue.4, pp.517-539, 2012.

V. Sachdev, L. A. Matura, S. Sidenko, V. B. Ho, A. E. Arai et al., Aortic valve disease in Turner syndrome, J Am Coll Cardiol. 13 mai, vol.51, pp.1904-1913, 2008.

S. C. Siu and C. K. Silversides, Bicuspid aortic valve disease, J Am Coll Cardiol. 22 juin, vol.55, issue.25, pp.2789-800, 2010.

T. Völkl, K. Degenhardt, A. Koch, D. Simm, H. G. Dörr et al., Cardiovascular anomalies in children and young adults with Ullrich-Turner syndrome the Erlangen experience, Clin Cardiol. févr, vol.28, issue.2, pp.88-92, 2005.

V. B. Ho, V. K. Bakalov, M. Cooley, P. L. Van, M. N. Hood et al., Major vascular anomalies in Turner syndrome: prevalence and magnetic resonance angiographic features, Circulation. 21 sept, vol.110, issue.12, pp.1694-700, 2004.

K. H. Mortensen, B. E. Hjerrild, N. H. Andersen, K. E. Sørensen, A. Hørlyck et al., Abnormalities of the major intrathoracic arteries in Turner syndrome as revealed by magnetic resonance imaging, Cardiol Young. avr, vol.20, issue.2, pp.191-200, 2010.

J. Vriend and B. Mulder, Late complications in patients after repair of aortic coarctation: implications for management, Int J Cardiol. 8 juin, vol.101, issue.3, pp.399-406, 2005.

V. P. Sybert, Cardiovascular malformations and complications in Turner syndrome, Pediatrics. janv, vol.101, issue.1, p.11, 1998.

C. H. Gravholt, K. Landin-wilhelmsen, K. Stochholm, B. E. Hjerrild, T. Ledet et al., Clinical and epidemiological description of aortic dissection in Turner's syndrome. Cardiol Young, vol.16, pp.430-436, 2006.

L. Turner, protocole national de diagnostic et de soins, Gynécologie Obstétrique Fertil. 1 juill, vol.36, issue.7-8, pp.826-833, 2008.

H. K. Kim, W. Gottliebson, K. Hor, P. Backeljauw, I. Gutmark-little et al., Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI findings in a pediatric and young adult population, AJR Am J Roentgenol. févr, vol.196, issue.2, pp.454-60, 2011.

C. H. Gravholt, S. Juul, R. W. Naeraa, and J. Hansen, Morbidity in Turner Syndrome, J Clin Epidemiol. 1 févr, vol.51, issue.2, pp.147-58, 1998.

A. B. Sozen, K. Cefle, H. Kudat, S. Ozturk, H. Oflaz et al., Atrial and ventricular arryhthmogenic potential in Turner Syndrome, Pacing Clin Electrophysiol PACE. sept, vol.31, issue.9, pp.1140-1145, 2008.

V. K. Bakalov, C. Cheng, J. Zhou, and C. A. Bondy, X-chromosome gene dosage and the risk of diabetes in Turner syndrome, J Clin Endocrinol Metab. sept, vol.94, issue.9, pp.3289-96, 2009.

A. Cicognani, L. Mazzanti, D. Tassinari, A. Pellacani, A. Forabosco et al., Differences in carbohydrate tolerance in Turner syndrome depending on age and karyotype, Eur J Pediatr. oct, vol.148, issue.1, pp.64-72, 1988.

M. Elsheikh and G. S. Conway, The impact of obesity on cardiovascular risk factors in Turner's syndrome, Clin Endocrinol (Oxf). oct, vol.49, issue.4, pp.447-50, 1998.

M. C. Lee and G. S. Conway, Liver dysfunction in Turner syndrome and its relationship to exogenous oestrogen, Eur J Gastroenterol Hepatol, vol.25, issue.10, pp.1141-1146, 2013.

M. El-mansoury, K. Berntorp, I. Bryman, C. Hanson, E. Innala et al., Elevated liver enzymes in Turner syndrome during a 5-year follow-up study, Clin Endocrinol (Oxf). 1 mars, vol.68, issue.3, pp.485-90, 2008.

R. Idilman, D. Maria, N. Colantoni, A. Kugelmas, M. et al., Cirrhosis in Turner's syndrome: case report and literature review, Eur J Gastroenterol Hepatol. juin, vol.12, issue.6, pp.707-716, 2000.

D. Roulot, C. Degott, O. Chazouillères, F. Oberti, P. Calès et al., Vascular involvement of the liver in Turner's syndrome, Hepatol Baltim Md. janv, vol.39, issue.1, pp.239-286, 2004.

D. Roulot, Liver involvement in Turner syndrome, Liver Int Off J Int Assoc Study Liver. janv, vol.33, issue.1, pp.24-30, 2013.

V. Calcaterra, P. Brambilla, G. C. Maffè, C. Klersy, R. Albertini et al., Metabolic syndrome in Turner syndrome and relation between body composition and clinical, genetic, and ultrasonographic characteristics, Metab Syndr Relat Disord. avr, vol.12, issue.3, pp.159-64, 2014.

M. Salerno, D. Maio, S. Gasparini, N. Rizzo, M. Ferri et al., Liver abnormalities in Turner syndrome, Eur J Pediatr. août, vol.158, issue.8, pp.618-641, 1999.

O. Koulouri, J. Ostberg, and G. S. Conway, Liver dysfunction in Turner's syndrome: prevalence, natural history and effect of exogenous oestrogen, Clin Endocrinol (Oxf). août, vol.69, issue.2, pp.306-316, 2008.

J. E. Ostberg, E. L. Thomas, G. Hamilton, M. Attar, J. D. Bell et al., Excess visceral and hepatic adipose tissue in Turner syndrome determined by magnetic resonance imaging: estrogen deficiency associated with hepatic adipose content, J Clin Endocrinol Metab. mai, vol.90, issue.5, pp.2631-2636, 2005.

K. T. Jørgensen, K. Rostgaard, I. Bache, R. J. Biggar, N. M. Nielsen et al., Autoimmune diseases in women with Turner's Syndrome, Arthritis Rheum. 1 mars, vol.62, issue.3, pp.658-66, 2010.

K. H. Mortensen, L. Cleemann, B. E. Hjerrild, E. Nexo, H. Locht et al., Increased prevalence of autoimmunity in Turner syndrome -influence of age, Clin Exp Immunol. mai, vol.156, issue.2, pp.205-215, 2009.

T. Aversa, F. Lombardo, M. Valenzise, M. F. Messina, C. Sferlazzas et al., Peculiarities of autoimmune thyroid diseases in children with Turner or Down syndrome: an overview, Ital J Pediatr. 15 mai, vol.41, p.39, 2015.

A. M. Gawlik, E. Berdej-szczot, D. Blat, R. Klekotka, T. Gawlik et al., Immunological Profile and Predisposition to Autoimmunity in Girls With Turner Syndrome, 2018.

M. El-mansoury, I. Bryman, K. Berntorp, C. Hanson, L. Wilhelmsen et al., Hypothyroidism is common in turner syndrome: results of a five-year follow-up, J Clin Endocrinol Metab. avr, vol.90, issue.4, pp.2131-2136, 2005.

M. Elsheikh, J. A. Wass, and G. S. Conway, Autoimmune thyroid syndrome in women with Turner's syndrome--the association with karyotype, Clin Endocrinol (Oxf). août, vol.55, issue.2, pp.223-229, 2001.

C. H. Gravholt, R. W. Naeraa, B. Nyholm, L. U. Gerdes, E. Christiansen et al., Glucose metabolism, lipid metabolism, and cardiovascular risk factors in adult Turner's syndrome. The impact of sex hormone replacement, Diabetes Care. juill, vol.21, issue.7, pp.1062-70, 1998.

B. Salgin, R. Amin, K. Yuen, R. M. Williams, P. Murgatroyd et al., Insulin resistance is an intrinsic defect independent of fat mass in women with Turner's syndrome, Horm Res, vol.65, issue.2, pp.69-75, 2006.

K. Mårild, K. Størdal, A. Hagman, and J. F. Ludvigsson, Turner Syndrome and Celiac Disease: A Case-Control Study, Pediatrics. févr, vol.137, issue.2, p.20152232, 2016.

A. E. Stenberg, O. Nylén, M. Windh, and M. Hultcrantz, Otological problems in children with Turner's syndrome, Hear Res. oct, vol.124, issue.1-2, pp.85-90, 1998.

N. M. Bois, D. Zenaty, J. Léger, T. Van-den-abbeele, and N. Teissier, Otologic disorders in Turner syndrome, Eur Ann Otorhinolaryngol Head Neck Dis. 1 févr, vol.135, issue.1, pp.21-25, 2018.

N. Güngör, B. Böke, E. Belgin, and E. Tunçbilek, High frequency hearing loss in Ullrich-Turner syndrome, Eur J Pediatr, vol.159, issue.10, pp.740-744, 2000.

I. Bilge, H. Kayserili, S. Emre, A. Nayir, A. Sirin et al., Frequency of renal malformations in Turner syndrome: analysis of 82 Turkish children, Pediatr Nephrol Berl Ger, vol.14, issue.12, pp.1111-1115, 2000.

R. T. Hamza, M. H. Shalaby, L. S. Hamed, D. Abdulla, S. M. Elfekky et al., Renal anomalies in patients with turner syndrome: Is scintigraphy superior to ultrasound?, Am J Med Genet A. févr, vol.170, issue.2, pp.355-62, 2016.

M. T. Flynn, L. Ekstrom, D. Arce, M. Costigan, C. Hoey et al., Prevalence of renal malformation in Turner syndrome, Pediatr Nephrol Berl Ger. août, vol.10, issue.4, pp.498-500, 1996.

A. B. Carvalho, G. Júnior, G. Baptista, M. De-faria, A. et al., Cardiovascular and renal anomalies in Turner syndrome, Rev Assoc Medica Bras, vol.56, issue.6, pp.655-664, 1992.

J. Ross, D. Roeltgen, and A. Zinn, Cognition and the sex chromosomes: studies in Turner syndrome, Horm Res, vol.65, issue.1, pp.47-56, 2006.

C. Culen, D. Ertl, K. Schubert, L. Bartha-doering, and G. Haeusler, Care of girls and women with Turner syndrome: beyond growth and hormones. Endocr Connect. 23 mars, vol.6, pp.39-51, 2017.

C. M. Temple, Oral fluency and narrative production in children with Turner's syndrome, Neuropsychologia, vol.40, issue.8, pp.1419-1446, 2002.

D. Hong, J. S. Kent, and S. Kesler, Cognitive profile of Turner Syndrome, Dev Disabil Res Rev, vol.15, issue.4, pp.270-278, 2009.

J. Lepage, B. Dunkin, D. S. Hong, and A. L. Reiss, Impact of cognitive profile on social functioning in prepubescent females with Turner syndrome, Child Neuropsychol J Norm Abnorm Dev Child Adolesc. mars, vol.19, issue.2, pp.161-72, 2013.

K. Stochholm, B. Hjerrild, K. H. Mortensen, S. Juul, M. Frydenberg et al., Socioeconomic parameters and mortality in Turner syndrome, Eur J Endocrinol. 6 janv, vol.166, issue.6, pp.1013-1022, 2012.

E. E. Naess, D. Bahr, and C. H. Gravholt, Health status in women with Turner syndrome: a questionnaire study on health status, education, work participation and aspects of sexual functioning, Clin Endocrinol (Oxf). 1 mai, vol.72, issue.5, pp.678-84, 2010.

E. J. Sutton, J. Young, A. Mcinerney-leo, C. A. Bondy, S. E. Gollust et al., Truth-telling and Turner Syndrome: The Importance of Diagnostic Disclosure, J Pediatr. 1 janv, vol.148, issue.1, pp.102-109, 2006.

K. Stochholm, S. Juul, K. Juel, R. W. Naeraa, H. Gravholt et al., Incidence, Diagnostic Delay, and Mortality in Turner Syndrome, J Clin Endocrinol Metab, vol.91, issue.10, pp.3897-902, 2006.

E. Sari, A. Bereket, E. Ye?ilkaya, F. Ba?, R. Bundak et al., Anthropometric findings from birth to adulthood and their relation with karyotpye distribution in Turkish girls with Turner syndrome, Am J Med Genet A, vol.170, issue.4, pp.942-950

L. Apperley, U. Das, R. Ramakrishnan, P. Dharmaraj, J. Blair et al., Mode of clinical presentation and delayed diagnosis of Turner syndrome: a single Centre UK study, Int J Pediatr Endocrinol, p.4, 2018.

E. B. Hook, Spontaneous Deaths of Fetuses with Chromosomal Abnormalities Diagnosed Prenatally, N Engl J Med, vol.299, pp.1036-1044, 1978.

K. H. Nicolaides, V. Heath, and S. Cicero, Increased fetal nuchal translucency at 11-14 weeks, Prenat Diagn. avr, vol.22, issue.4, pp.308-323, 2002.

C. Ruiz, F. Lamm, and P. S. Hart, Turner syndrome and multiple-marker screening, Clin Chem. déc, vol.45, issue.12, pp.2259-61, 1999.

M. Elsheikh, D. B. Dunger, G. S. Conway, J. Wass, and .. H. , Turner's Syndrome in Adulthood, Endocr Rev. 1 févr, vol.23, issue.1, pp.120-160, 2002.

A. Pimblett, C. L. Rosa, T. King, M. C. Davies, and G. S. Conway, The Turner syndrome life course project: Karyotype-phenotype analyses across the lifespan, Clin Endocrinol (Oxf), vol.87, issue.5, pp.532-540, 2017.

E. Ye?ilkaya, A. Bereket, F. Darendeliler, F. Ba?, ?. Poyrazo?lu et al., Turner syndrome and associated problems in Turkish children: a multicenter study, J Clin Res Pediatr Endocrinol. mars, vol.7, issue.1, pp.27-36, 2015.

V. P. Sybert, Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome, J Med Genet. mars, vol.39, issue.3, pp.217-237, 2002.

L. Homer, L. Martelot, M. Morel, F. Amice, V. Kerlan et al., 45,X/46,XX mosaicism below 30% of aneuploidy: clinical implications in adult women from a reproductive medicine unit, Eur J Endocrinol. mars, vol.162, issue.3, pp.617-640, 2010.
URL : https://hal.archives-ouvertes.fr/hal-00929846

S. Bucerzan, D. Miclea, R. Popp, C. Alkhzouz, C. Lazea et al., Clinical and genetic characteristics in a group of 45 patients with Turner syndrome (monocentric study), Ther Clin Risk Manag, vol.13, pp.613-635, 2017.

. Fiot, X-chromosome gene dosage as a determinant of impaired pre and postnatal growth and adult height in Turner syndrome, Eur J Endocrinol, vol.175, issue.3, p.1, 2016.
URL : https://hal.archives-ouvertes.fr/hal-01882125

C. P. Hagen, L. Aksglaede, K. Sørensen, K. M. Main, M. Boas et al., Serum Levels of AntiMüllerian 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, vol.95, issue.11, pp.5003-5013, 2010.

N. B. Abdelmoula, Apport de la cytogénétique moléculaire au diagnostic des anomalies chromosomiques, Ann Biol Clin, vol.62, p.9, 2004.

B. Bianco, M. Lipay, M. I. Melaragno, A. D. Guedes, and I. Verreschi, Detection of hidden Y mosaicism in Turner's syndrome: importance in the prevention of gonadoblastoma, J Pediatr Endocrinol Metab JPEM. sept, vol.19, issue.9, pp.1113-1120, 2006.

L. Hanson, I. Bryman, P. O. Janson, A. Jakobsen, and C. Hanson, Fluorescence in situ hybridisation analysis and ovarian histology of women with Turner syndrome presenting with Y-chromosomal material: a correlation between oral epithelial cells, lymphocytes and ovarian tissue, Hereditas, vol.137, issue.1, pp.1-6, 2002.

S. J. Abulhasan and S. M. Tayel, Mosaic Turner syndrome: cytogenetics versus FISH, Ann Hum Genet. mai, vol.63, pp.199-206, 1999.

L. Mazzanti and E. Cacciari, Congenital heart disease in patients with Turner's syndrome. Italian Study Group for Turner Syndrome (ISGTS), J Pediatr. nov, vol.133, issue.5, pp.688-92, 1998.

M. J. Tokita and V. P. Sybert, Postnatal outcomes of prenatally diagnosed 45,X/46,XX, Am J Med Genet A. mai, vol.170, issue.5, pp.1196-201, 2016.

D. R. Murdock, F. X. Donovan, S. C. Chandrasekharappa, N. Banks, C. Bondy et al., Whole-Exome Sequencing for Diagnosis of Turner Syndrome: Toward Next-Generation Sequencing and Newborn Screening, J Clin Endocrinol Metab. 24 janv, vol.102, issue.5, pp.1529-1566, 2017.

S. A. Rivkees, K. Hager, S. Hosono, A. Wise, P. Li et al., A Highly Sensitive, High-Throughput Assay for the Detection of Turner Syndrome, J Clin Endocrinol Metab. 1 mars, vol.96, issue.3, pp.699-705, 2011.

Q. Zhang, X. Guo, T. Tian, T. Wang, Q. Li et al., Detection of Turner syndrome using Xchromosome inactivation specific differentially methylated CpG sites: A pilot study, Clin Chim Acta. 1 mai, vol.468, pp.174-183, 2017.

M. Devernay, E. Ecosse, J. Coste, and J. Carel, Determinants of Medical Care for Young Women with Turner Syndrome, J Clin Endocrinol Metab. 1 sept, vol.94, issue.9, pp.3408-3421, 2009.