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Riferimenti bibliografici

Riferimenti utilizzati nella costruzione del wizard di counseling per 47,XXY, organizzati per tema.

Klinefelter syndrome — Fonti cliniche principali

  1. Gravholt CH, Chang S, Wallentin M, et al. Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology. Endocr Rev. 2018;39:389. doi:10.1210/er.2017-00212

  2. Matsumoto AM, Anawalt BD. Clinical features, diagnosis, and management of Klinefelter syndrome. UpToDate. Updated Jan 02, 2026.

  3. Bacino CA. Sex chromosome abnormalities. UpToDate. Updated May 21, 2025.

  4. Fabie NA, Spiliopoulos M. Klinefelter Syndrome. Pediatric Care Online, AAP. April 17, 2024. doi:10.1542/aap.ppcqr.396474

  5. Zitzmann M, Aksglaede L, Corona G, et al. European Academy of Andrology guidelines on Klinefelter Syndrome. Andrology. 2021;9:145. doi:10.1111/andr.12909

  6. Davis SM, Teerlink C, Lynch JA, et al. Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort. JAMA Netw Open. 2024;7:e244113.

NIPT e screening per SCA

  1. SMFM Consult Series #74. Cell-free DNA screening for aneuploidies. Society for Maternal-Fetal Medicine. Pregnancy. 2025.

  2. Samango-Sprouse C, Keen C, Sadeghin T, Gropman A. The benefits and limitations of cell-free DNA screening for 47,XXY (Klinefelter syndrome). Prenat Diagn. 2017;37:497.

Ascertainment bias e coorti prenatali

  1. Gruchy N, Vialard F, Decamp M, et al. Pregnancy outcomes in 188 French cases of prenatally diagnosed Klinefelter syndrome. Hum Reprod. 2011;26:2570.

  2. Gunther DF, Eugster E, Zagar AJ, et al. Ascertainment bias in Turner syndrome: new insights from girls who were diagnosed incidentally in prenatal life. Pediatrics. 2004;114:640.

Counseling e disclosure

  1. Girardin CM, Van Vliet G. Counselling of a couple faced with a prenatal diagnosis of Klinefelter syndrome. Acta Paediatr. 2011;100:917.

  2. Dennis A, Howell S, Cordeiro L, Tartaglia N. "How should I tell my child?" Disclosing the diagnosis of sex chromosome aneuploidies. J Genet Couns. 2015;24:88.

  3. Tremblay I, Van Vliet G, Gonthier M, Janvier A. Partnering with parents to disclose Klinefelter syndrome to their child. Acta Paediatr. 2016;105:456.

Fertilità

  1. Corona G, Pizzocaro A, Lanfranco F, et al. Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis. Hum Reprod Update. 2017;23:265.

  2. Renault L, Labrune E, Giscard d'Estaing S, et al. Delaying testicular sperm extraction in 47,XXY Klinefelter patients does not impair the sperm retrieval rate. Hum Reprod. 2022;37:2518.

  3. Kang C, Punjani N, Kashanian JA, Schlegel PN. Age, Sperm Retrieval, and Testicular Histology in Klinefelter Syndrome. J Urol. 2024;211:163.

  4. Pook CJ, Cocca A, Grandone A, et al. The Evidence for Fertility Preservation in Pediatric Klinefelter Syndrome. Front Reprod Health. 2021;3:629179.

  5. Franik S, Hoeijmakers Y, D'Hauwers K, et al. Klinefelter syndrome and fertility: sperm preservation should not be offered to children with Klinefelter syndrome. Hum Reprod. 2016;31:1952.

Testosterone neonatale e linee guida italiane/europee

  1. Bonomi M, Cangiano B, Cianfarani S, et al. Management of Andrological Disorders From Childhood and Adolescence to Transition Age: SIAMS-SIEDP Guidelines, Part 1. J Endocrinol Invest. 2025;48(1):1-22. doi:10.1007/s40618-024-02435-x

  2. Nordenström A, Ahmed SF, van den Akker E, et al. Pubertal Induction and Transition to Adult Sex Hormone Replacement: Endo-ERN Clinical Practice Guideline. Eur J Endocrinol. 2022;186(6):G9-G49.

  3. Ishii T, Sasaki G, Hasegawa T, et al. Testosterone Enanthate Therapy Is Effective and Independent of SRD5A2 and AR Gene Polymorphisms in Boys With Micropenis. J Urol. 2004;172(1):319-24.

  4. Davis SM, Howell S, Janusz J, et al. Testosterone Effects on Short-term Physical, Hormonal, and Neurodevelopmental Outcomes (TESTO) in Infants With 47,XXY. J Clin Endocrinol Metab. 2025;110:3493.

  5. Ross JL, Kushner H, Kowal K, et al. Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. J Pediatr. 2017;185:193.

Test diagnostici rapidi: FISH e QF-PCR

  1. Hultén MA, Dhanjal S, Pertl B. Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR. Reproduction. 2003;126(3):279-97.

  2. Mann K, Fox SP, Abbs SJ, et al. Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service. Lancet. 2001;358(9287):1057-61.

  3. Mann K, Petek E, Pertl B. Prenatal Detection of Chromosome Aneuploidy by Quantitative Fluorescence PCR. Methods Mol Biol. 2019;1885:139-160.

  4. ACOG Practice Bulletin No. 162. Prenatal Diagnostic Testing for Genetic Disorders. Obstet Gynecol. 2016;127(5):e108-e122.

Sangue cordonale (Postnatal Cord Blood Sampling)

  1. Kaufman DA, Lucke AM, Cummings JJ; AAP Committee on Fetus and Newborn. Postnatal Cord Blood Sampling: Clinical Report. Pediatrics. 2025;155(6):e2025071811. doi:10.1542/peds.2025-071811

  2. Adams S, Llorin H, Dobson LJ, et al. Postnatal Genetic Testing on Cord Blood for Prenatally Identified High-Probability Cases. Prenatal Diagnosis. 2023;43(9):1120-1131. doi:10.1002/pd.6352

Falsi positivi NIPT e implicazioni materne

  1. Whigham CA. Cell-free fetal DNA results suggestive of sex chromosome aneuploidy. Prenatal Diagnosis. 2023. doi:10.1002/pd.6261

  2. Reilly J. The ethical implications of incidental findings in NIPT. The Obstetrician & Gynaecologist. 2023. doi:10.1111/tog.12850

  3. Wan J, et al. Maternal sex chromosome mosaicism and false-positive NIPT. J Matern Fetal Neonatal Med. 2022. PMID:35282756

  4. Li H, et al. Improved NIPT performance combining Z-score and maternal CNV analysis. Frontiers in Genetics. 2022. doi:10.3389/fgene.2022.887176

  5. He Y, et al. Maternal CNV and false-positive NIPT for SCA. PMC. 2022. PMC9266605

Altre fonti

  1. Bojesen A, Juul S, Gravholt CH. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. J Clin Endocrinol Metab. 2003;88(2):622-626.

  2. Jacobs PA, et al. Recurrence risks for chromosome abnormalities. EJHG. 2007. doi:10.1038/sj.ejhg.5201956

  3. Jünger AL, Lasecke M, Foland-Ross LC, et al. Social, Emotional, and Behavioral Functioning in Adolescents With Klinefelter Syndrome. J Dev Behav Pediatr. 2025;46:e216.

  4. Samango-Sprouse CA, Hamzik MP, Khaksari K, et al. Novel Neurocognitive Profile in a Minority of Boys with 47,XXY. J Dev Behav Pediatr. 2022;43:e623.

Ultimo aggiornamento: Marzo 2026