Precocious Puberty, Central, 2; Cppb2

Description

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).For discussion of genetic heterogeneity of central precocious puberty, see CPPB1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Precocious Puberty, Central, 2; Cppb2

  • Neoplasm
  • Obesity
  • Abnormality of the cardiovascular system
  • Type II diabetes mellitus
  • Accelerated skeletal maturation
  • Breast carcinoma
  • Precocious puberty
  • Premature thelarche

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Precocious Puberty, Central, 2; Cppb2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MKRN3.

By Fulgent Genetics Fulgent Genetics (United States).

MKRN3
Specificity
100 %
Genes
100 %
Abnormal Genitalia/ Disorders of Sex Development Panel.

By Blueprint Genetics (Finland).

SOX9, SRD5A2, SRY, STAR, TACR3, CEP41, WT1, PROKR2, ZFPM2, FIG4, IL17RD, CDKN1C, ARX, PROK2, FRAS1, CHD7, BCOR, RSPO1, CREBBP, MAMLD1 , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
100 %
Central Precocious Puberty NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children (United States).

KISS1R, KISS1, LHCGR, MKRN3
Specificity
25 %
Genes
100 %
MKRN3 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children (United States).

MKRN3
Specificity
100 %
Genes
100 %

We have -4 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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