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Descriptor English: Klinefelter Syndrome
Descriptor Spanish: Síndrome de Klinefelter
Descriptor síndrome de Klinefelter
Scope note: TRASTORNO DEL CROMOSOMA SEXUAL caracterizado por testículos pequeños, infradesarrollo de las características sexuales secundarias, infertilidad (INFERTILIDAD MASCULINA), hializanización y fibrosis de los túbulos seminíferos y aumento de las concentracieones de gonadotropina. Los pacientes tienden a tener unas piernas largas y son delgados y de estatura alta. Muchos pacientes tienen GINECOMASTIA. La forma clásica tiene el cariotipo 47,XXY. Varias variantes incluyen los cariotipos 48,XXYY; 48,XXXY; 49,XXXXY y varios patrones mosaico ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Descriptor Portuguese: Síndrome de Klinefelter
Descriptor French: Syndrome de Klinefelter
Entry term(s): 48,XXYY Syndrome
49,XXXXY Syndrome
Klinefelter Syndrome, Variants
Klinefelter Syndromes
Klinefelter Syndromes, Variants
Klinefelter's Syndrome
Klinefelters Syndrome
Syndrome, Klinefelter
Syndrome, Klinefelter's
Syndrome, Variants Klinefelter
Syndrome, XXY
Syndrome, Xxyy
Syndromes, Klinefelter
Syndromes, Variants Klinefelter
Syndromes, XXY
Syndromes, Xxyy
Trisomies, XXY
Trisomy, XXY
XXXY Male
XXXY Males
XXY Syndrome
XXY Syndromes
XXY Trisomies
XXY Trisomy
Xxyy Syndrome
Xxyy Syndromes
Tree 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
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D007713
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.).
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
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
DeCS ID: 7889
Unique ID: D007713
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1966/01/01
Date of Entry: 1999/01/01
Revision Date: 2016/06/28
Klinefelter Syndrome - Preferred
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.).
Preferred term Klinefelter Syndrome
Entry term(s) Klinefelter Syndromes
Klinefelter's Syndrome
Klinefelters Syndrome
Syndrome, Klinefelter
Syndrome, Klinefelter's
Syndrome, XXY
Syndromes, Klinefelter
Syndromes, XXY
XXY Syndrome
XXY Syndromes
Klinefelter Syndrome, Variants - Narrower
Concept UI M0545761
Preferred term Klinefelter Syndrome, Variants
Entry term(s) Klinefelter Syndromes, Variants
Syndrome, Variants Klinefelter
Syndromes, Variants Klinefelter
48,XXYY Syndrome - Narrower
Concept UI M0545762
Preferred term 48,XXYY Syndrome
Entry term(s) Syndrome, Xxyy
Syndromes, Xxyy
Xxyy Syndrome
Xxyy Syndromes
XXY Trisomy - Narrower
Concept UI M0525214
Preferred term XXY Trisomy
Entry term(s) Trisomies, XXY
Trisomy, XXY
XXY Trisomies
49,XXXXY Syndrome - Narrower
Concept UI M0545763
Preferred term 49,XXXXY Syndrome
XXXY Males - Narrower
Concept UI M0545764
Preferred term XXXY Males
Entry term(s) XXXY Male



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