Other sex chromosome abnormalities, male phenotype, not elsewhere classified (Q98)
Clinical Information
Gigantism - The condition of accelerated and excessive GROWTH in children or adolescents who are exposed to excess HUMAN GROWTH HORMONE before the closure of EPIPHYSES. It is usually caused by somatotroph hyperplasia or a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.
Klinefelter Syndrome - 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.).
Sotos Syndrome - Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.
Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
Chromosomal abnormalities, not elsewhere classified (Q90-Q99)
Q98 Other sex chromosome abnormalities, male phenotype, not elsewhere classified
- Q98.0 Klinefelter syndrome karyotype 47, XXY
- Q98.1 Klinefelter syndrome, male with more than two X chromosomes
- Q98.3 Other male with 46, XX karyotype
- Q98.4 Klinefelter syndrome, unspecified
- Q98.5 Karyotype 47, XYY
- Q98.6 Male with structurally abnormal sex chromosome
- Q98.7 Male with sex chromosome mosaicism
- Q98.8 Other specified sex chromosome abnormalities, male phenotype
- Q98.9 Sex chromosome abnormality, male phenotype, unspecified
Other sex chromosome abnormalities, male phenotype, not elsewhere classified (Q98)