Rare Endocrinology News

Disease Profile

Precocious puberty

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Childhood

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ICD-10

E22.8 E30.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Sexual precocity; Idiopathic sexual precocity; Familial precocious puberty

Summary

Precocious puberty is when a person's sexual and physical traits develop and mature earlier than normal. Normal puberty typically begins between ages 10 and 14 for girls, and ages 12 and 16 for boys. The start of puberty depends on various factors such as family history, nutrition and gender. The cause of precocious puberty is not always known. Some cases of precocious puberty are due to conditions that cause changes in the body's release of hormones. Treatment involves medications that can stop the release of sexual hormones.[1]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Hypothyroidism
Underactive thyroid
0000821
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Elevated circulating follicle stimulating hormone level
0008232
Elevated circulating luteinizing hormone level
0011969
Isosexual precocious puberty
0008236
Short stature
Decreased body height
Small stature

[ more ]

0004322

Treatment

Several studies have looked at the long-term effects of treatment with hormone therapy on children with precocious puberty. Long-term hormone treatment has been found to be safe for the reproductive system and helpful in reaching target adult height levels.[2] Additionally, there is little evidence suggesting that long term hormone treatment is associated with psychological or behavioral problems. More studies are needed to determine this association.[3]

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Mayo Clinic provides information on precocious puberty. Click on the link above to access this information.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Precocious puberty. Click on the link to view a sample search on this topic.

References

  1. Precocious puberty. Medline Plus. 2011; https://www.nlm.nih.gov/medlineplus/ency/article/001168.htm. Accessed 12/21/2012.
  2. Pasquino AM, Pucarelli I, Accardo F, et al.. Long-term observation of 87 girls with idiopathic central precocious puberty treated with gonadotropin-releasing hormone analogs: impact on adult height, body mass index, bone mineral content, and reproductive function.. J. Clin Endocrin Met. 2008; 93:190-5. https://www.ncbi.nlm.nih.gov/pubmed/17940112. Accessed 12/21/2012.
  3. Carel JC, Eugster E, Rogal A, et al. Consensus Statement on the Use of Gonadotropin-Releasing Hormone Analogs in Children. Pediatrics. 2009; 123:752-762. https://pediatrics.aappublications.org/content/123/4/e752.long. Accessed 12/21/2012.

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