Central precocious puberty [DS:H02018] Familial male-limited precocious puberty [DS:H02019]
Description
Precocious puberty has been classically defined as the onset of secondary sexual characteristics in girls younger than 8 years old and in boys younger than 9 and a half years old. Central precocious puberty (CEPREPU) refers to a gonadotropin-dependent type which results from premature activation of the hypothalamic-pituitary-gonadal axis (HPG). CEPREPU is much more frequent in girls than in boys (up to 20:1 ratio). Recently, kisspeptin receptor (KISS1R) and its ligand, kisspeptin, were revealed as major gatekeepers of puberty onset. Mutations of the KISS1R gene were described in patients with impaired pubertal development. On the other hand, it has been reported that heterozygous mutations of the LHCGR gene cause gonadotropin-independent precocious puberty in males, but have no detectable effects on prepubertal or postpubertal females.
Category
Endocrine and metabolic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Endocrine diseases
Disorders of the pituitary hormone system
5A60 Hyperfunction of pituitary gland
H00937 Precocious puberty
Certain disorders of puberty
5A92 Peripheral precocious puberty
H00937 Precocious puberty
Pathway-based classification of diseases [BR:br08402]
Endocrine system
nt06323 KISS1-GnRH-LH/FSH-E2 signaling
H00937 Precocious puberty
