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Centra precocious puberty 1(CPPB1)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Precocious puberty, central, 1; Precocious puberty, gonadotropin-dependent
Gene (location): KISS1R (19p13.3)
Monarch Initiative: MONDO:0008302
OMIM®: 176400


Early activation of the hypothalamic-pituitary-gonadal axis results in gonadotropin-dependent precocious puberty, also known as central precocious puberty, which is clinically defined by the development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. Pubertal timing is influenced by complex interactions among genetic, nutritional, environmental, and socioeconomic factors. The timing of puberty is associated with risks of subsequent disease: earlier age of menarche in girls is associated with increased risk of breast cancer, endometrial cancer, obesity, type 2 diabetes, and cardiovascular disease. Central precocious puberty has also been associated with an increased incidence of conduct and behavior disorders during adolescence (summary by Abreu et al., 2013). Genetic Heterogeneity of Central Precocious Puberty Central precocious puberty-2 (CPPB2; 615346) is caused by mutation in the MKRN3 gene (603856) on chromosome 15q11. [from OMIM]

Additional description

From MedlinePlus Genetics
Central precocious puberty is a condition that causes early sexual development in girls and boys. While puberty normally starts between ages 8 and 13 in girls and between ages 9 and 14 in boys, girls with central precocious puberty begin exhibiting signs before age 8, and boys with this disorder begin before age 9. Signs of puberty include development of pubic and underarm hair, a rapid increase in height (commonly referred to as a "growth spurt"), acne, and underarm odor. Girls also develop breasts and begin their menstrual periods. Boys have growth of the penis and testes and deepening of the voice. Because of the early growth spurt, children with central precocious puberty may be taller than their peers; however, they may stop growing abnormally early. Without proper treatment, some affected individuals are shorter in adulthood compared with other members of their family. Developing ahead of their peers can be emotionally difficult for affected individuals and may lead to psychological and behavioral problems.  https://medlineplus.gov/genetics/condition/central-precocious-puberty

Clinical features

From HPO
Short stature
MedGen UID:
Concept ID:
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
MedGen UID:
Concept ID:
Disease or Syndrome
Deficiency of thyroid hormone.
Isosexual precocious puberty
MedGen UID:
Concept ID:
Disease or Syndrome
Elevated circulating follicle stimulating hormone level
MedGen UID:
Concept ID:
An elevated concentration of follicle-stimulating hormone in the blood.
Elevated circulating luteinizing hormone level
MedGen UID:
Concept ID:
An elevated concentration of luteinizing hormone in the blood.

Term Hierarchy

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