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Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome.
Am J Med Genet C Semin Med Genet. 2020 06; 184(2):302-312.AJ

Abstract

Klinefelter syndrome (KS) is the most frequent sex chromosomal aneuploidy. The karyotype 47,XXY originates from either paternal or maternal meiotic nondisjunction during gametogenesis. KS males are very likely to exhibit marked gonadal dysfunctions, presenting both in severely attenuated spermatogenesis as well as hypergonadotropic hypogonadism. In addition, neurocognitive and psychosocial impairments, as well as cardiovascular, metabolic and bone disorders are often found in KS and might explain for an increased morbidity/mortality. All conditions in KS are likely to be induced by both gene overdosage effects resulting from supernumerary X-chromosomal genes as well as testosterone deficiency. Notwithstanding, the clinical features are highly variable between KS men. Symptoms can become obvious at infancy, childhood, or adolescence. However, the majority of KS subjects is diagnosed during adulthood. KS adolescents require specific attention regarding pubertal development, in order to exploit their remaining fertility potential and allow for timely and tailored testosterone replacement. The chances for sperm retrieval might decline with age and could be hampered by testosterone replacement; therefore, cryostorage of spermatozoa is an option during adolescence, before the decompensation of endocrine and exocrine testicular functions becomes more overt. Sperm from semen or surgically retrieved, in combination with intracytoplasmic sperm injection enables KS males to become biological fathers of healthy children. The aim of this article is to present the current knowledge on KS, to guide clinical care and to highlight research needs.

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Publisher Full Text (DOI)

Authors+Show Affiliations

Zitzmann M
Center for Reproductive Medicine and Andrology/Clinical Andrology, University Clinics Muenster, Muenster, Germany.
Rohayem J
Center for Reproductive Medicine and Andrology/Clinical Andrology, University Clinics Muenster, Muenster, Germany.

MeSH

AdolescentAdultChildChild, PreschoolChromosomes, Human, XGonadal DisordersGonadsHumansKlinefelter SyndromeMaleSex Chromosome DisordersXYY KaryotypeYoung Adult

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

32415901

Citation

Zitzmann, Michael, and Julia Rohayem. "Gonadal Dysfunction and Beyond: Clinical Challenges in Children, Adolescents, and Adults With 47,XXY Klinefelter Syndrome." American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol. 184, no. 2, 2020, pp. 302-312.
Zitzmann M, Rohayem J. Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome. Am J Med Genet C Semin Med Genet. 2020;184(2):302-312.
Zitzmann, M., & Rohayem, J. (2020). Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 184(2), 302-312. https://doi.org/10.1002/ajmg.c.31786
Zitzmann M, Rohayem J. Gonadal Dysfunction and Beyond: Clinical Challenges in Children, Adolescents, and Adults With 47,XXY Klinefelter Syndrome. Am J Med Genet C Semin Med Genet. 2020;184(2):302-312. PubMed PMID: 32415901.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Gonadal dysfunction and beyond: Clinical challenges in children, adolescents, and adults with 47,XXY Klinefelter syndrome. AU - Zitzmann,Michael, AU - Rohayem,Julia, Y1 - 2020/05/16/ PY - 2020/04/07/received PY - 2020/04/09/revised PY - 2020/04/13/accepted PY - 2020/5/18/pubmed PY - 2021/5/6/medline PY - 2020/5/17/entrez KW - 47,XXY KW - Klinefelter syndrome KW - children with Klinefelter syndrome KW - fertility in Klinefelter syndrome KW - hypogonadism in Klinefelter syndrome SP - 302 EP - 312 JF - American journal of medical genetics. Part C, Seminars in medical genetics JO - Am J Med Genet C Semin Med Genet VL - 184 IS - 2 N2 - Klinefelter syndrome (KS) is the most frequent sex chromosomal aneuploidy. The karyotype 47,XXY originates from either paternal or maternal meiotic nondisjunction during gametogenesis. KS males are very likely to exhibit marked gonadal dysfunctions, presenting both in severely attenuated spermatogenesis as well as hypergonadotropic hypogonadism. In addition, neurocognitive and psychosocial impairments, as well as cardiovascular, metabolic and bone disorders are often found in KS and might explain for an increased morbidity/mortality. All conditions in KS are likely to be induced by both gene overdosage effects resulting from supernumerary X-chromosomal genes as well as testosterone deficiency. Notwithstanding, the clinical features are highly variable between KS men. Symptoms can become obvious at infancy, childhood, or adolescence. However, the majority of KS subjects is diagnosed during adulthood. KS adolescents require specific attention regarding pubertal development, in order to exploit their remaining fertility potential and allow for timely and tailored testosterone replacement. The chances for sperm retrieval might decline with age and could be hampered by testosterone replacement; therefore, cryostorage of spermatozoa is an option during adolescence, before the decompensation of endocrine and exocrine testicular functions becomes more overt. Sperm from semen or surgically retrieved, in combination with intracytoplasmic sperm injection enables KS males to become biological fathers of healthy children. The aim of this article is to present the current knowledge on KS, to guide clinical care and to highlight research needs. SN - 1552-4876 UR - https://www.unboundmedicine.com/medline/citation/32415901/Gonadal_dysfunction_and_beyond:_Clinical_challenges_in_children_adolescents_and_adults_with_47XXY_Klinefelter_syndrome_ DB - PRIME DP - Unbound Medicine ER -