Research & Literature

A fertile patient with 45X/47XXX mosaicism.

Sahinturk S, Ozemri Sag S, Ture M, et al.

Genetic counseling (Geneva, Switzerland) 2015; (26(1)):29-34.

Occurrence of Gonadoblastoma in Patients with 45,X/46,XY Mosaicism.

Dendrinos ML, Smorgick N, Marsh CA, et al.

Journal of pediatric and adolescent gynecology 2015; (28(3)):192-5.

Autoimmune polyglandular syndrome type 2 manifested as Hashimoto's thyroiditis and adrenocortical insufficiency, in Turner syndrome woman, with onset following introduction of treatment with recombinant human growth hormone.

Cyniak-Magierska A, Lasoń A, Smyczyńska J, Lewiński A

Neuro endocrinology letters 2015; (36(2)):119-23.

Turner syndrome presented with tall stature due to overdosage of the SHOX gene.

Seo GH, Kang E, Cho JH, et al.

Annals of pediatric endocrinology & metabolism 2015; (20(2)):110-3 doi:10.6065/apem.2015.20.2.110.

The current management of Turner syndrome.

Kriksciuniene R, Zilaitiene B, Verkauskiene R

Minerva endocrinologica 2015;.

Fertility Preservation in Women with Turner Syndrome: A Comprehensive Review and Practical Guidelines.

Oktay K, Bedoschi G, Berkowitz K, et al.

Journal of pediatric and adolescent gynecology 2016; (29(5)):409-416 doi:10.1016/j.jpag.2015.10.011.

A unique mosaic Turner syndrome patient with androgen receptor gene derived marker chromosome.

Kalkan R, Özdağ N, Bundak R, et al.

Systems biology in reproductive medicine 2016; (62(1)):77-83 doi:10.3109/19396368.2015.1109007.

Mixed gonadal dysgenesis in 45,X Turner syndrome with SRY gene.

Jung JY, Yang S, Jeong EH, et al.

Annals of pediatric endocrinology & metabolism 2015; (20(4)):226-9 doi:10.6065/apem.2015.20.4.226.

Hypogonadism and Sex Steroid Replacement Therapy in Girls with Turner Syndrome.

Gawlik A, Hankus M, Such K, et al.

Journal of pediatric and adolescent gynecology 2016; (29(6)):542-550 doi:10.1016/j.jpag.2016.03.005.

Disorders of Sexual Development in Adult Women.

Gomez-Lobo V, Amies Oelschlager AM,

Obstetrics and gynecology 2016; (128(5)):1162-1173 doi:10.1097/AOG.0000000000001672.

[Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].

Zheng J, Liu Z, Xia P, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017; (34(1)):61-64 doi:10.3760/cma.j.issn.1003-9406.2017.01.014.

Sex chromosome aneuploidy detection by noninvasive prenatal testing: helpful or hazardous?

Reiss RE, Discenza M, Foster J, et al.

Prenatal diagnosis 2017; (37(5)):515-520 doi:10.1002/pd.5039.

The Short-Stature Homeobox-Containing Gene (shox/SHOX) Is Required for the Regulation of Cell Proliferation and Bone Differentiation in Zebrafish Embryo and Human Mesenchymal Stem Cells.

Yokokura T, Kamei H, Shibano T, et al.

Frontiers in endocrinology 2017; (8()):125 doi:10.3389/fendo.2017.00125.

Turner Syndrome: Care of the Patient: Birth to Late Adolescence.

Paolucci DG, Bamba V

Pediatric endocrinology reviews : PER 2017; (14(Suppl 2)):454-461 doi:10.17458/per.vol14.2017.pb.turnersyndromecare.

A Spontaneous Pregnancy in a Patient with Turner Syndrome with 45,X/47,XXX Mosaicism: A Case Report and Review of the Literature.

Mavridi A, Ntali G, Theodora M, et al.

Journal of pediatric and adolescent gynecology 2018; (31(6)):651-654 doi:10.1016/j.jpag.2018.07.005.

Mosaic Turner syndrome shows reduced penetrance in an adult population study.

Tuke MA, Ruth KS, Wood AR, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(4)):877-886 doi:10.1038/s41436-018-0271-6.

[Analysis of the influencing factors of recombinant human growth hormone effect in the children with Turner syndrome].

Li J, Wu W, Liang Y, Luo XP

Zhonghua er ke za zhi = Chinese journal of pediatrics 2018; (56(11)):866-870 doi:10.3760/cma.j.issn.0578-1310.2018.11.014.

Dental and Maxillofacial Signs in Leri-Weill Dyschondrosteosis.

Depeyre A, Schlund M, Nicot R, Ferri J

Journal of oral and maxillofacial surgery : official journal of the American Association of Oral and Maxillofacial Surgeons 2019; (77(4)):762-768 doi:10.1016/j.joms.2018.11.001.

Early Bilateral Gonadoblastoma Associated With 45,X/46,XY Mosaicism: The Spectrum of Undifferentiated Gonadal Tissue and Gonadoblastoma in the First Months of Life.

Berklite L, Witchel SF, Yatsenko SA, et al.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2019; (22(4)):380-385 doi:10.1177/1093526618824469.

Turner syndrome: New insights from prenatal genomics and transcriptomics.

Bianchi DW

American journal of medical genetics. Part C, Seminars in medical genetics 2019; doi:10.1002/ajmg.c.31675.

Short stature homeoboxcontaining gene and idiopathic short stature.

Iughetti L, Appio P, Capone L, et al.

Expert review of endocrinology & metabolism 2009; (4(3)):241-250 doi:10.1586/eem.09.5.

Turner syndrome: update on current therapies.

Bondy C

Expert review of endocrinology & metabolism 2007; (2(3)):359-366 doi:10.1586/17446651.2.3.359.

Screening, prenatal diagnosis, and prenatal decision for sex chromosome aneuploidy.

Xu Y, Chen L, Liu Y, et al.

Expert review of molecular diagnostics 2019; (19(6)):537-542 doi:10.1080/14737159.2019.1613154.

Karyotype - Phenotype Associations in Patients with Turner Syndrome.

Noordman ID, van der Velden JA, Timmers HJ, et al.

Pediatric endocrinology reviews : PER 2019; (16(4)):431-440 doi:10.17458/per.vol16.2019.nvt.karyotypeturnersyndrome.

Dysgerminoma in a 10-Year Old with 45X/46XY Turner Syndrome Mosaicism.

Dowlut-McElroy T, Vilchez DA, Taboada EM, Strickland JL

Journal of pediatric and adolescent gynecology 2019; (32(5)):555-557 doi:10.1016/j.jpag.2019.06.008.

Female fertility preservation in DSD.

Kalra R, Cameron M, Stern C

Best practice & research. Clinical endocrinology & metabolism 2019; (33(3)):101289 doi:10.1016/j.beem.2019.101289.

GH successful treatment in a female with a de novo 46,XX,add(X)(p36),t(X;Y)(p36.3;p11.2), growth impairment and SHOX-haploinsufficiency.

Maggio MC, Corsello G

Italian journal of pediatrics 2019; (45(1)):100 doi:10.1186/s13052-019-0694-y.

Orthopaedic Manifestations in Turner Syndrome.

Acosta AM, Steinman SE, White KK

The Journal of the American Academy of Orthopaedic Surgeons 2019; (27(23)):e1021-e1028 doi:10.5435/JAAOS-D-17-00796.

Depression in Turner Syndrome: A Systematic Review.

Morris LA, Tishelman AC, Kremen J, Ross RA

Archives of sexual behavior 2020; (49(2)):769-786 doi:10.1007/s10508-019-01549-1.

Association between cardiovascular anomalies and karyotypes in Turner syndrome patients in Taiwan: A local cohort study.

Chou YY, Wang CJ, Lin CH, et al.

Pediatrics and neonatology 2020; (61(2)):188-194 doi:10.1016/j.pedneo.2019.10.001.

Metabolic syndrome coexists with adult Léri-Weill dyschondrosteosis: A case report.

Wang D, Pan X, Wang X

Journal of diabetes investigation 2021; (12(3)):446-449 doi:10.1111/jdi.13350.

Effects of age at estrogen replacement therapy initiation on trabecular bone score in Japanese adults with Turner syndrome.

Saito S, Koga E, Okada Y, et al.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2021; (32(4)):671-680 doi:10.1007/s00198-020-05652-1.

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.

Nadesapillai S, van der Velden J, Smeets D, et al.

Fertility and sterility 2021; (115(5)):1280-1287 doi:10.1016/j.fertnstert.2020.11.006.

Pubertal induction in girls with Turner Syndrome.

Aversa T, Corica D, Pepe G, et al.

Minerva endocrinology 2021; (46(4)):469-480 doi:10.23736/S2724-6507.20.03285-X.

TRANSITION-RELATED DISCUSSIONS AMONG ADOLESCENT FEMALES WITH TURNER SYNDROME: CURRENT PRACTICES AND ASSOCIATED FACTORS.

Patel N, Davis S, Nahata L

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2021; (27(1)):56-62 doi:10.4158/EP-2020-0287.

Genetic counseling for women with 45,X/46,XX mosaicism: Towards more personalized management.

Snyder EA, San Roman AK, Piña-Aguilar RE, et al.

European journal of medical genetics 2021; (64(3)):104140 doi:10.1016/j.ejmg.2021.104140.

Analysis of 17,428 pregnant women undergoing non-invasive prenatal testing for fetal chromosome in Northeast China.

Dai R, Yu Y, Zhang H, et al.

Medicine 2021; (100(6)):e24740 doi:10.1097/MD.0000000000024740.

Renal morphology and function from childhood to adulthood in Turner syndrome.

Ogawa T, Takizawa F, Mukoyama Y, et al.

Clinical and experimental nephrology 2021; (25(6)):633-640 doi:10.1007/s10157-021-02031-w.

Inconsistency of Karyotyping and Array Comparative Genomic Hybridization (aCGH) in a Mosaic Turner Syndrome Case.

Tulay P, Ergoren MC, Alkaya A, et al.

Global medical genetics 2020; (7(4)):128-132 doi:10.1055/s-0041-1722974.

Y Chromosome Material in Turner Syndrome.

Akcan AB, Boduroğlu OK

Cureus 2021; (13(11)):e19977 doi:10.7759/cureus.19977.

Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol).

Fiot E, Alauze B, Donadille B, et al.

Orphanet journal of rare diseases 2022; (17(Suppl 1)):261 doi:10.1186/s13023-022-02423-5.

Cell-free DNA screening positive for monosomy X: clinical evaluation and management of suspected maternal or fetal Turner syndrome.

Dowlut-McElroy T, Davis S, Howell S, et al.

American journal of obstetrics and gynecology 2022; (227(6)):862-870 doi:10.1016/j.ajog.2022.07.004.

Karyotyping of Lymphocytes and Epithelial Cells of Distinct Embryonic Origin Does Not Help to Predict the Turner Syndrome Features.

Pavlicek J, Soucek O, Vrtel R, et al.

Hormone research in paediatrics 2022; (95(5)):465-475 doi:10.1159/000525823.

Turner Syndrome Mosaicism 45,X/46,XY with Genital Ambiguity and Duchenne Muscular Dystrophy: Translational Approach of a Rare Italian Case.

Lamanna B, Vinciguerra M, Dellino M, et al.

International journal of molecular sciences 2022; (23(22)) doi:10.3390/ijms232214408.

Ovarian tissue cryopreservation for a 3-year-old girl with Mosaic Turner syndrome in China: First case report and literature review.

Cheng J, Ruan X, Du J, et al.

Frontiers in endocrinology 2022; (13()):959912 doi:10.3389/fendo.2022.959912.

Multicenter clinical experience with non-invasive cell-free DNA screening for monosomy X and related X-chromosome variants.

Bedei I, Gehrke T, Gloning KP, et al.

Prenatal diagnosis 2023; (43(2)):192-206 doi:10.1002/pd.6320.

Identification of a Small Supernumerary Marker Chromosome in a Turner Syndrome Patient with Karyotype mos 46,X,+mar/45,X.

González-Rodríguez MTA, Brukman-Jiménez SA, Cuero-Quezada I, et al.

Genes 2023; (14(2)) doi:10.3390/genes14020253.

Trends and outcomes of fertility preservation for girls, adolescents and young adults with Turner syndrome: A prospective cohort study.

Rodriguez-Wallberg KA, Sergouniotis F, Nilsson HP, Lundberg FE

Frontiers in endocrinology 2023; (14()):1135249 doi:10.3389/fendo.2023.1135249.

Pubertal induction in Turner syndrome without gonadal function: A possibility of earlier, lower-dose estrogen therapy.

Hasegawa Y, Hasegawa T, Satoh M, et al.

Frontiers in endocrinology 2023; (14()):1051695 doi:10.3389/fendo.2023.1051695.

Turner syndrome: results of the first Tunisian study group on Turner syndrome (TuSGOT).

Essaddam L, Zitouni O, Kraoua L, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2023; (36(6)):577-583 doi:10.1515/jpem-2022-0360.

Rare and Atypical Case of Turner Syndrome With Three Cell Lines.

Essouabni A, Ahakoud M, Aynaou H, et al.

Cureus 2023; (15(6)):e41128 doi:10.7759/cureus.41128.

Effect of Growth Hormone and Estrogen Replacement Therapy on Bone Mineral Density in Women with Turner Syndrome: A Meta-Analysis and Systematic Review.

Szybiak W, Kujawa B, Miedziaszczyk M, Lacka K

Pharmaceuticals (Basel, Switzerland) 2023; (16(9)) doi:10.3390/ph16091320.

Analysis of genetic variability in Turner syndrome linked to long-term clinical features.

Suntharalingham JP, Ishida M, Cameron-Pimblett A, et al.

Frontiers in endocrinology 2023; (14()):1227164 doi:10.3389/fendo.2023.1227164.

Mosaic Turner Variant Adult Female Presenting with XO/XY Karyotype.

George S, Dagar VK, Nagaraja N, Chakrabarty BK

Journal of human reproductive sciences 2023; (16(3)):260-262 doi:10.4103/jhrs.jhrs_71_23.

Effects of Hormone Replacement Therapy on Bone Mineral Density in Korean Adults With Turner Syndrome.

Kim S, Kim H, Lee I, et al.

Journal of Korean medical science 2024; (39(1)):e9 doi:10.3346/jkms.2024.39.e9.

Behavioral Assessment of Central Auditory Processing in Turner Syndrome.

Santos AFDD, Bazilio MMM, Frota S, et al.

International archives of otorhinolaryngology 2024; (28(1)):e50-e56 doi:10.1055/s-0043-1768141.

Gonadoblastoma in a patient with 45,X/46XY mosaicism.

Bravo-Taxa M, Taxa-Rojas L

Ecancermedicalscience 2023; (17()):1613 doi:10.3332/ecancer.2023.1613.

Navigating fertility dilemmas across the lifespan in girls with Turner syndrome-a scoping review.

van der Coelen S, van der Velden J, Nadesapillai S, et al.

Human reproduction update 2024; (30(4)):383-409 doi:10.1093/humupd/dmae005.

Transition from pediatrics to adult health care in girls with turner syndrome.

Sabbadin C, Marin L, Manso J, et al.

Expert review of endocrinology & metabolism 2024; (19(3)):229-240 doi:10.1080/17446651.2024.2347265.

William Aldren Turner (1864-1945).

Larner AJ

Journal of neurology 2024; (271(8)):5699-5701 doi:10.1007/s00415-024-12498-8.

Improvement of Bone Metabolism in Prepubertal Girls with Turner Syndrome Following Long-term Pegylated Growth Hormone Treatment.

Gao X, Cao B, Chen J, et al.

Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2025; (57(2)):101-105 doi:10.1055/a-2407-9446.

Growth and Growth-Promoting Treatments in Turner Syndrome.

Kanakatti Shankar R, Quigley CA, Isojima T, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2025; (199(1)):e32133 doi:10.1002/ajmg.c.32133.

Enhancing Non-Invasive Prenatal Testing: A Novel Approach to Improve 45,X Prediction Accuracy.

Lin X, Huang C, Chen L, et al.

Prenatal diagnosis 2025; (45(4)):473-481 doi:10.1002/pd.6756.

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team.

de Groote K, Patel SR, Mortensen KH, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2025; (199(2)):51-71 doi:10.1002/ajmg.c.32139.

Might Thyroid Function in Patients with Turner Syndrome Have a Significant Impact on Their Muscle Strength?

Krzyscin M, Sowińska-Przepiera E, Bumbulienė Ž, Syrenicz A

International journal of molecular sciences 2025; (26(8)) doi:10.3390/ijms26083679.

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta-Analysis.

Álvarez-Nava F, Crenshaw ML, Bedei I, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2025; (199(2)):93-106 doi:10.1002/ajmg.c.32146.

How Does Turner Syndrome Affect Quality of Life? A Systematic Review.

Stoynova H, Staynova R, Kafalova D

Medicina (Kaunas, Lithuania) 2025; (61(9)) doi:10.3390/medicina61091643.

Bone Health and Pubertal Induction in Turner Syndrome: The Possibility of Earlier Transdermal Lower-Dose Estradiol Therapy for Healthy Bone Density and Quality.

Hasegawa Y, Ikegawa K, Munenaga T, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2025; (199(2)):107-115 doi:10.1002/ajmg.c.32155.

Mixed Gonadal Dysgenesis: A Comprehensive Review of Clinical Spectrum, Diagnostic Strategies, and Management Approaches.

Giri D, Yewale S, Hickingbotham H, et al.

Clinical endocrinology 2026; (104(2)):92-102 doi:10.1111/cen.70053.

A National Survey of Paediatric Turner Syndrome Services in the UK: Current Practice and Variability in Care.

Law JM, Amin N, Ferguson EC, et al.

Hormone research in paediatrics 2026; 1-7 doi:10.1159/000550412.

Prevalence and Impact of Partial Anomalous Pulmonary Venous Connection in Turner Syndrome.

Tenisch E, Gigliotti S, Lam J, et al.

CJC pediatric and congenital heart disease 2025; (4(6)):330-337 doi:10.1016/j.cjcpc.2025.06.004.