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 15 publications over 12 distinct years, with a maximum of 2 publications in 2005 and 2011 and 2017

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
2010	1	1
2011	2	2
2012	1	1
2017	2	2
2019	1	1
2021	1	1
2022	1	1
2025	1	1

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

J?nger AL, Lasecke M, Foland-Ross LC, Jordan TL, Sundstrom JL, Wun VL, Witkin GA, Ikomi C, Ross J, Reiss AL. Social, Emotional, and Behavioral Functioning in Adolescents With Klinefelter Syndrome. J Dev Behav Pediatr. 2025 Mar-Apr 01; 46(2):e216-e222.

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
Swanson K, Bishop JC, Al-Kouatly HB, Makhamreh M, Felton T, Vora NL, Sparks TN, Jelin AC. Prenatal phenotype of 47, XXY (Klinefelter syndrome). Prenat Diagn. 2023 02; 43(2):207-212.

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
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
Ross JL, Roeltgen DP, Kushner H, Zinn AR, Reiss A, Bardsley MZ, McCauley E, Tartaglia N. Behavioral and social phenotypes in boys with 47,XYY syndrome or 47,XXY Klinefelter syndrome. Pediatrics. 2012 Apr; 129(4):769-78.

View in: PubMed
Bardsley MZ, Falkner B, Kowal K, Ross JL. Insulin resistance and metabolic syndrome in prepubertal boys with Klinefelter syndrome. Acta Paediatr. 2011 Jun; 100(6):866-70.

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Velasco G, Savarese V, Sandorfi N, Jimenez SA, Jabbour S. 46, XX SRY-positive male syndrome presenting with primary hypogonadism in the setting of scleroderma. Endocr Pract. 2011 Jan-Feb; 17(1):95-8.

View in: PubMed
Fishman MD, Eisenberg DA, Horrow MM. Klinefelter syndrome with leydig cell tumor/hyperplasia. Ultrasound Q. 2010 Jun; 26(2):101-2.

View in: PubMed

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