MeSH Browser

MeSH Heading: Klinefelter Syndrome
Tree Number(s): C12.050.351.875.253.795.500; C12.200.706.316.795.500; C12.800.316.795.500; 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
Unique ID: D007713
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D007713
Annotation: index here karyotypes XXXY, XXXXY, XXYY, XXXYY, XX/XXY, XX/YY, XY/XXY, XXY/XXXY, XXY/XXYY, XY/XXY/XXXY if called KLINEFELTER SYNDROME by author but if not so named by author, index under SEX CHROMOSOME DISORDERS
Scope Note: 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.).
Entry Term(s): 48,XXYY Syndrome; 49,XXXXY Syndrome; Klinefelter Syndrome, Variants; Klinefelter's Syndrome; XXXY Males; XXY Syndrome; XXY Trisomy; Xxyy Syndrome
NLM Classification #: QS 677
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2021/06/30

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Concept UI: M0012062
Scope Note: 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.).
Terms: Klinefelter Syndrome Preferred Term
Term UI T432071
Date01/02/2001
LexicalTag NON
ThesaurusID; Klinefelter's Syndrome
Term UI T023149
Date01/01/1999
LexicalTag EPO
ThesaurusID; XXY Syndrome
Term UI T782689
Date12/22/2010
LexicalTag NON
ThesaurusID

Klinefelter Syndrome MeSH Descriptor Data 2025