Klinefelter Syndrome

"Klinefelter Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).

Descriptor ID	D007713
MeSH Number(s)	C12.706.316.795.500 C13.351.875.253.795.500 C16.131.260.830.835.500 C16.131.939.316.795.500 C16.320.180.830.835.500 C19.391.119.795.500 C19.391.482.629
Concept/Terms	Klinefelter Syndrome Klinefelter Syndrome Klinefelter Syndromes Syndrome, Klinefelter Syndromes, Klinefelter XXY Syndrome Syndrome, XXY Syndromes, XXY XXY Syndromes Klinefelter's Syndrome Klinefelters Syndrome Syndrome, Klinefelter's Klinefelter Syndrome, Variants Klinefelter Syndrome, Variants Klinefelter Syndromes, Variants Syndrome, Variants Klinefelter Syndromes, Variants Klinefelter 48,XXYY Syndrome 48,XXYY Syndrome Xxyy Syndrome Syndrome, Xxyy Syndromes, Xxyy Xxyy Syndromes XXY Trisomy XXY Trisomy Trisomies, XXY Trisomy, XXY XXY Trisomies 49,XXXXY Syndrome 49,XXXXY Syndrome XXXY Males XXXY Males XXXY Male

Below are MeSH descriptors whose meaning is more general than "Klinefelter Syndrome".

Diseases [C]
Male Urogenital Diseases [C12]
Urogenital Abnormalities [C12.706]
Disorders of Sex Development [C12.706.316]
Sex Chromosome Disorders of Sex Development [C12.706.316.795]
Klinefelter Syndrome [C12.706.316.795.500]
Female Urogenital Diseases and Pregnancy Complications [C13]
Female Urogenital Diseases [C13.351]
Urogenital Abnormalities [C13.351.875]
Disorders of Sex Development [C13.351.875.253]
Sex Chromosome Disorders of Sex Development [C13.351.875.253.795]
Klinefelter Syndrome [C13.351.875.253.795.500]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Chromosome Disorders [C16.131.260]
Sex Chromosome Disorders [C16.131.260.830]
Sex Chromosome Disorders of Sex Development [C16.131.260.830.835]
Klinefelter Syndrome [C16.131.260.830.835.500]
Urogenital Abnormalities [C16.131.939]
Disorders of Sex Development [C16.131.939.316]
Sex Chromosome Disorders of Sex Development [C16.131.939.316.795]
Klinefelter Syndrome [C16.131.939.316.795.500]
Genetic Diseases, Inborn [C16.320]
Chromosome Disorders [C16.320.180]
Sex Chromosome Disorders [C16.320.180.830]
Sex Chromosome Disorders of Sex Development [C16.320.180.830.835]
Klinefelter Syndrome [C16.320.180.830.835.500]
Endocrine System Diseases [C19]
Gonadal Disorders [C19.391]
Disorders of Sex Development [C19.391.119]
Sex Chromosome Disorders of Sex Development [C19.391.119.795]
Klinefelter Syndrome [C19.391.119.795.500]
Hypogonadism [C19.391.482]
Klinefelter Syndrome [C19.391.482.629]

Below are MeSH descriptors whose meaning is related to "Klinefelter Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Klinefelter Syndrome".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Klinefelter Syndrome" by people in this website by year, and whether "Klinefelter Syndrome" was a major or minor topic of these publications.

Bar chart showing 21 publications over 14 distinct years, with a maximum of 4 publications in 2011

To see the data from this visualization as text, click here.

Year	Major Topic	Total
2005	2	2
2007	1	1
2008	1	1
2009	1	1
2011	4	4
2012	2	2
2013	1	1
2015	1	1
2017	2	2
2018	2	2
2019	1	1
2020	1	1
2022	1	1
2023	1	1

Below are the most recent publications written about "Klinefelter Syndrome" by people in Profiles.

Jordan TL, Foland-Ross LC, Wun VL, Ross JL, Reiss AL. Cognition, Academic Achievement, Adaptive Behavior, and Quality of Life in Child and Adolescent Boys with Klinefelter Syndrome. J Dev Behav Pediatr. 2023 09 01; 44(7):e476-e485.

View in: PubMed
Davis SM, Nokoff NJ, Furniss A, Pyle L, Valentine A, Fechner P, Ikomi C, Magnusen B, Nahata L, Vogiatzi MG, Dempsey A. Population-based Assessment of Cardiometabolic-related Diagnoses in Youth With Klinefelter Syndrome: A PEDSnet Study. J Clin Endocrinol Metab. 2022 04 19; 107(5):e1850-e1859.

View in: PubMed
Aksglaede L, Davis SM, Ross JL, Juul A. Minipuberty in Klinefelter syndrome: Current status and future directions. Am J Med Genet C Semin Med Genet. 2020 06; 184(2):320-326.

View in: PubMed
Lin AE, Santoro S, High FA, Goldenberg P, Gutmark-Little I. Congenital heart defects associated with aneuploidy syndromes: New insights into familiar associations. Am J Med Genet C Semin Med Genet. 2020 03; 184(1):53-63.

View in: PubMed
Foland-Ross LC, Ross JL, Reiss AL. Androgen treatment effects on hippocampus structure in boys with Klinefelter syndrome. Psychoneuroendocrinology. 2019 02; 100:223-228.

View in: PubMed
Davis SM, Lahlou N, Cox-Martin M, Kowal K, Zeitler PS, Ross JL. Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys With Klinefelter Syndrome. J Clin Endocrinol Metab. 2018 09 01; 103(9):3449-3455.

View in: PubMed
Ross JL, Kushner H, Kowal K, Bardsley M, Davis S, Reiss AL, Tartaglia N, Roeltgen D. Androgen Treatment Effects on Motor Function, Cognition, and Behavior in Boys with Klinefelter Syndrome. J Pediatr. 2017 06; 185:193-199.e4.

View in: PubMed
Davis SM, Cox-Martin MG, Bardsley MZ, Kowal K, Zeitler PS, Ross JL. Effects of Oxandrolone on Cardiometabolic Health in Boys With Klinefelter Syndrome: A Randomized Controlled Trial. J Clin Endocrinol Metab. 2017 01 01; 102(1):176-184.

View in: PubMed
Davis SM, Rogol AD, Ross JL. Testis Development and Fertility Potential in Boys with Klinefelter Syndrome. Endocrinol Metab Clin North Am. 2015 Dec; 44(4):843-65.

View in: PubMed
Rogol AD, Swerdloff RS, Reiter EO, Ross JL, ZumBrunnen TL, Pratt GA, Brennan JJ, Benesh J, Kan-Dobrosky N, Miller MG. A multicenter, open-label, observational study of testosterone gel (1%) in the treatment of adolescent boys with klinefelter syndrome or anorchia. J Adolesc Health. 2014 Jan; 54(1):20-5.

View in: PubMed

People

Explore

Similar Concepts

Top Journals

The Thomas Jefferson University web site, its contents and programs, is provided for informational and educational purposes only and is not intended as medical advice nor is it intended to create any physician-patient relationship. Please remember that this information should not substitute for a visit or a consultation with a health care provider. The views or opinions expressed in the resources provided do not necessarily reflect those of Thomas Jefferson University, Thomas Jefferson University Hospital, or the Jefferson Health System or staff.
Please read our Privacy Statement