Research & Literature

Neonatal diagnosis of 49, XXXXY syndrome.

Etemadi K, Basir B, Ghahremani S

Iranian journal of reproductive medicine 2015; (13(3)):181-4.

48, XXXY/49, XXXXY mosaic: new neuroradiological features in an ultra-rare syndrome.

Milani D, Bonarrigo F, Avignone S, et al.

Italian journal of pediatrics 2015; (41()):50 doi:10.1186/s13052-015-0156-0.

Autism spectrum disorder associated with 49,XYYYY: case report and review of the literature.

Demily C, Poisson A, Peyroux E, et al.

BMC medical genetics 2017; (18(1)):9 doi:10.1186/s12881-017-0371-1.

[Karyptype 48,XXXY/49,XXXXY and proximal radioulnar synostosis].

Girón Del Río R, Jeronimo Dos Santos T, Travieso-Suárez L, et al.

Anales de pediatria 2018; (88(5)):282-284 doi:10.1016/j.anpedi.2017.05.008.

Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease.

Rodrigues MA, Morgade LF, Dias LFA, et al.

Genetics and molecular research : GMR 2017; (16(3)) doi:10.4238/gmr16039780.

Sex chromosome aneuploidies.

Skuse D, Printzlau F, Wolstencroft J

Handbook of clinical neurology 2018; (147()):355-376 doi:10.1016/B978-0-444-63233-3.00024-5.

Evidence of increased humoral endocrine organ-specific autoimmunity in severe and classic X-chromosome aneuploidies in comparison with 46,XY control subjects.

Panimolle F, Tiberti C, Granato S, et al.

Autoimmunity 2018; (51(4)):175-182 doi:10.1080/08916934.2018.1477134.

A Rare Case of Klinefelter Syndrome Accompanied by Spastic Paraplegia and Peripheral Neuropathy.

Sasaki R, Ohta Y, Takahashi Y, et al.

Internal medicine (Tokyo, Japan) 2019; (58(3)):437-440 doi:10.2169/internalmedicine.1048-18.

Female predisposition to TLR7-driven autoimmunity: gene dosage and the escape from X chromosome inactivation.

Souyris M, Mejía JE, Chaumeil J, Guéry JC

Seminars in immunopathology 2019; (41(2)):153-164 doi:10.1007/s00281-018-0712-y.

Phonemic and Semantic Verbal Fluency in Sex Chromosome Aneuploidy: Contrasting the Effects of Supernumerary X versus Y Chromosomes on Performance.

Udhnani M, Maiman M, Blumenthal JD, et al.

Journal of the International Neuropsychological Society : JINS 2018; (24(9)):917-927 doi:10.1017/S1355617718000723.

Health professionals' involvement and information provision in genetic counseling following prenatal diagnosis of sex chromosome aneuploidy in Hong Kong.

So PL, Cheng YKY, Cheuk KY, et al.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics 2019; (144(3)):314-316 doi:10.1002/ijgo.12737.

Epicardial fat: the role of testosterone and lipid metabolism in a cohort of patients with Klinefelter syndrome.

Granato S, Barbaro G, Di Giorgio MR, et al.

Metabolism: clinical and experimental 2019; (95()):21-26 doi:10.1016/j.metabol.2019.03.002.

Copy number of the X-linked genes TLR7 and CD40L influences innate and adaptive immune responses.

Sarmiento L, Svensson J, Barchetta I, et al.

Scandinavian journal of immunology 2019; (90(2)):e12776 doi:10.1111/sji.12776.

Klinefelter Syndrome: Clinical Spectrum Based on 44 Consecutive Cases from a South Indian Tertiary Care Center.

Asirvatham AR, Pavithran PV, Pankaj A, et al.

Indian journal of endocrinology and metabolism 2019; (23(2)):263-266 doi:10.4103/ijem.IJEM_582_18.

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.

Emotional symptoms and family functioning in caregivers of children with newly diagnosed leukemia/lymphomas and solid tumors: Short-term changes and related demographic factors.

Peterson RK, Chung J, Barrera M

Pediatric blood & cancer 2020; (67(2)):e28059 doi:10.1002/pbc.28059.

Androgens During Infancy, Childhood, and Adolescence: Physiology and Use in Clinical Practice.

Mason KA, Schoelwer MJ, Rogol AD

Endocrine reviews 2020; (41(3)) doi:10.1210/endrev/bnaa003.

Genes that escape from X-chromosome inactivation: Potential contributors to Klinefelter syndrome.

Navarro-Cobos MJ, Balaton BP, Brown CJ

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(2)):226-238 doi:10.1002/ajmg.c.31800.

Psychological functioning, brain morphology, and functional neuroimaging in Klinefelter syndrome.

Skakkebaek A, Gravholt CH, Chang S, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(2)):506-517 doi:10.1002/ajmg.c.31806.

Confirmatory testing illustrates additional risks for structural sex chromosome abnormalities in fetuses with a non-invasive prenatal screen positive for monosomy X.

Sund KL, Khattar D, Boomer T, et al.

American journal of medical genetics. Part C, Seminars in medical genetics 2020; (184(2)):294-301 doi:10.1002/ajmg.c.31783.

The Necessity of Prenatal Diagnosis by CMA for the Women with NIPS-Positive Results.

Xu J, Xue Y, Wang J, et al.

International journal of genomics 2020; (2020()):2145701 doi:10.1155/2020/2145701.

Identification of common differentially expressed genes in Turner (45,X) and Klinefelter (47,XXY) syndromes using bioinformatics analysis.

Manotas MC, Calderón JC, López-Kleine L, et al.

Molecular genetics & genomic medicine 2020; (8(11)):e1503 doi:10.1002/mgg3.1503.

Establishment of an iPSC cohort from three unrelated 47-XXY Klinefelter Syndrome patients (KAUSTi007-A, KAUSTi007-B, KAUSTi009-A, KAUSTi009-B, KAUSTi010-A, KAUSTi010-B).

Alowaysi M, Fiacco E, Astro V, Adamo A

Stem cell research 2020; (49()):102042 doi:10.1016/j.scr.2020.102042.

Androgenization in Klinefelter syndrome: Clinical spectrum from infancy through young adulthood.

Nassau DE, Best JC, Cohen J, et al.

Journal of pediatric urology 2021; (17(3)):346-352 doi:10.1016/j.jpurol.2021.02.021.

Klinefelter syndrome in an adolescent with severe obesity, insulin resistance, and hyperlipidemia, successfully treated with testosterone replacement therapy.

Fukuhara S, Mori J, Nakajima H

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2021; (30(3)):127-132 doi:10.1297/cpe.30.127.

Effect of sex chromosome number variation on attention-deficit/hyperactivity disorder symptoms, executive function, and processing speed.

Green T, Flash S, Shankar G, et al.

Developmental medicine and child neurology 2022; (64(3)):331-339 doi:10.1111/dmcn.15020.

Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism.

Lam-Chung CE, Rodríguez LL, Kato YS, et al.

AACE clinical case reports 2021; (7(5)):293-298 doi:10.1016/j.aace.2021.03.001.

Comparison of American Urological Association and Endocrine Society guidelines on testosterone replacement.

Zucker IJ, Masterson TA

International journal of impotence research 2022; (34(7)):626-629 doi:10.1038/s41443-021-00477-w.

[Correlation of micropenis with abnormal chromosomal karyotype in peripheral blood lymphocytes].

Chen HT, Huang H, Ma H, Li S

Zhonghua nan ke xue = National journal of andrology 2020; (26(11)):1006-1009.

Machine learning based prediction models in male reproductive health: Development of a proof-of-concept model for Klinefelter Syndrome in azoospermic patients.

Krenz H, Sansone A, Fujarski M, et al.

Andrology 2022; (10(3)):534-544 doi:10.1111/andr.13141.

Pseudoautosomal Region 1 Overdosage Affects the Global Transcriptome in iPSCs From Patients With Klinefelter Syndrome and High-Grade X Chromosome Aneuploidies.

Astro V, Alowaysi M, Fiacco E, et al.

Frontiers in cell and developmental biology 2021; (9()):801597 doi:10.3389/fcell.2021.801597.

Psychological distress in parents of children with autism spectrum disorder: A cross-sectional study based on 683 mother-father dyads.

Li F, Tang Y, Li F, et al.

Journal of pediatric nursing 2022; (65()):e49-e55 doi:10.1016/j.pedn.2022.02.006.

A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype.

Verhoeven WMA, Egger JIM, Mergler S, et al.

International journal of general medicine 2022; (15()):2799-2806 doi:10.2147/IJGM.S348844.

Positive predictive value of noninvasive prenatal testing for sex chromosome abnormalities.

Guo N, Cai M, Lin M, et al.

Molecular biology reports 2022; (49(10)):9251-9256 doi:10.1007/s11033-022-07754-x.

Adult- and late-onset male hypogonadism: the clinical practice guidelines of the Italian Society of Andrology and Sexual Medicine (SIAMS) and the Italian Society of Endocrinology (SIE).

Isidori AM, Aversa A, Calogero A, et al.

Journal of endocrinological investigation 2022; (45(12)):2385-2403 doi:10.1007/s40618-022-01859-7.

Prenatal diagnosis of sex chromosome aneuploidy-What do we tell the prospective parents?

Reimers R, High F, Kremen J, Wilkins-Haug L

Prenatal diagnosis 2023; (43(2)):250-260 doi:10.1002/pd.6256.

Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review.

Ricciardi G, Cammisa L, Bove R, et al.

Children (Basel, Switzerland) 2022; (9(11)) doi:10.3390/children9111719.

Retrospective analysis of the sex chromosomal copy number variations in 186 fetuses using single nucleotide polymorphism arrays.

Wang H, Liang B, Wang Y, et al.

Frontiers in genetics 2022; (13()):997757 doi:10.3389/fgene.2022.997757.

Association of Supernumerary Sex Chromosome Aneuploidies With Venous Thromboembolism.

Berry ASF, Finucane BM, Myers SM, et al.

JAMA 2023; (329(3)):235-243 doi:10.1001/jama.2022.23897.

Associations of psychiatric disorders with sex chromosome aneuploidies in the Danish iPSYCH2015 dataset: a case-cohort study.

Sánchez XC, Montalbano S, Vaez M, et al.

The lancet. Psychiatry 2023; (10(2)):129-138 doi:10.1016/S2215-0366(23)00004-4.

Congenital radioulnar synostosis: is prenatal diagnosis possible? - A case report.

Li YY, Olisova K, Chen YN, et al.

Taiwanese journal of obstetrics & gynecology 2023; (62(2)):334-335 doi:10.1016/j.tjog.2022.09.011.

A transcriptomic signature of X chromosome overdosage in Saudi Klinefelter syndrome induced pluripotent stem cells.

Astro V, Fiacco E, Cardona-Londoño KJ, et al.

Endocrine connections 2023; (12(5)).

The behavioral profile of 49,XXXXY and the potential impact of testosterone replacement therapy.

Samango-Sprouse CA, Hamzik MP, Gropman E, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2023; (25(7)):100847 doi:10.1016/j.gim.2023.100847.

Influences of sex chromosome aneuploidy on height, weight, and body mass index in human childhood and adolescence.

Hanson C, Blumenthal J, Clasen L, et al.

American journal of medical genetics. Part A 2024; (194(2)):150-159 doi:10.1002/ajmg.a.63398.

The correlation between clinical features and ultrastructure of testis of non-mosaic Klinefelter's syndrome patients with hypogonadism and androgen deficiency: A case report.

Zhang B, Li F, Huang C, et al.

Heliyon 2023; (9(9)):e19940 doi:10.1016/j.heliyon.2023.e19940.

From Klinefelter Syndrome to High Grade Aneuploidies: Expanding the Gene-dosage Effect of Supernumerary X Chromosomes.

Spaziani M, Carlomagno F, Tarantino C, et al.

The Journal of clinical endocrinology and metabolism 2024; (109(8)):e1564-e1573 doi:10.1210/clinem/dgad730.

Generation of iPSC Cell Lines from Patients with Sex Chromosome Aneuploidies.

Astro V, Adamo A

Methods in molecular biology (Clifton, N.J.) 2024; (2770()):185-200 doi:10.1007/978-1-0716-3698-5_14.

Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort.

Davis SM, Teerlink C, Lynch JA, et al.

JAMA network open 2024; (7(3)):e244113 doi:10.1001/jamanetworkopen.2024.4113.

Research Priorities of Individuals and Families With Sex Chromosome Aneuploidies.

Carl A, Bothwell S, Farah F, et al.

American journal of medical genetics. Part A 2025; (197(6)):e63998 doi:10.1002/ajmg.a.63998.

Case Report of 49,XXXXY Syndrome: A Rare Variation of Klinefelter Syndrome With Seizure Disorder and ASD.

Shrestha A, Parajuli B, Pandit A

Clinical case reports 2025; (13(3)):e70257 doi:10.1002/ccr3.70257.

Generating Advancements in Longitudinal Analysis in X and Y Variations: Rationale, Methods, and Diagnostic Characteristics for the GALAXY Registry.

Carl A, Bothwell S, Swenson K, et al.

American journal of medical genetics. Part A 2026; (200(1)):23-34 doi:10.1002/ajmg.a.64214.