Evidence map›Paper›PMID 31460623›Full record

ReviewArchives of endocrinology and metabolism2019

Pioneering studies on monogenic central precocious puberty.

Ana Pinheiro Machado Canton, Carlos Eduardo Seraphim, Vinicius Nahime Brito, Ana Claudia Latronico

Open access · diamondAbstract readReview
In one paragraph

Review in Archives of endocrinology and metabolism, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
5.9field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

19 citing papers in PubMed, 40 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. [Recent advances in the genetic etiology of central precocious puberty].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024
    Review
  5. Review
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Review
  12. Genetic and Epigenetic Control of Puberty.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2022
    Review
  13. Review
  14. Review
  15. Article
  16. Article
  17. Delayed and Precocious Puberty: Genetic Underpinnings and Treatments.Endocrinology and metabolism clinics of North America · 2020
    Review
  18. Article
  19. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 1 institution in 1 country.

Ana Pinheiro Machado CantonUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42 do Hospital das Clínicas, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID http://orcid.org/0000-0001-8662-5412
Carlos Eduardo SeraphimUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42 do Hospital das Clínicas, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID http://orcid.org/0000-0002-4890-9470
Vinicius Nahime BritoUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42 do Hospital das Clínicas, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID http://orcid.org/0000-0003-4140-6296
Ana Claudia LatronicoUnidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular LIM/42 do Hospital das Clínicas, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP, Brasil.ORCID http://orcid.org/0000-0001-6782-693X
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo · BR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pubertal timing in humans is determined by complex interactions including hormonal, metabolic, environmental, ethnic, and genetic factors. Central precocious puberty (CPP) is defined as the premature reactivation of the hypothalamic-pituitary-gonadal axis, starting before the ages of 8 and 9 years in girls and boys, respectively; familial CPP is defined by the occurrence of CPP in two or more family members. Pioneering studies have evidenced the participation of genetic factors in pubertal timing, mainly identifying genetic causes of CPP in sporadic and familial cases. In this context, rare activating mutations were identified in genes of the kisspeptin excitatory pathway (KISS1R and KISS1 mutations). More recently, loss-of-function mutations in two imprinted genes (MKRN3 and DLK1) have been identified as important causes of familial CPP, describing novel players in the modulation of the hypothalamic-pituitary-gonadal axis in physiological and pathological conditions. MKRN3 mutations are the most common cause of familial CPP, and patients with MKRN3 mutations present clinical features indistinguishable from idiopathic CPP. Meanwhile, adult patients with DLK1 mutations present high frequency of metabolic alterations (overweight/obesity, early onset type 2 diabetes and hyperlipidemia), indicating that DLK1 may be a novel link between reproduction and metabolism. Arch Endocrinol Metab. 2019;63(4):438-44.

Indexed as

Calcium-Binding ProteinsGene SilencingHumansIntercellular Signaling Peptides and ProteinsKisspeptinsMembrane ProteinsMethylationMutationPhenotypePuberty, PrecociousReceptors, Kisspeptin-1RibonucleoproteinsUbiquitin-Protein LigasesCalcium-Binding ProteinsDLK1 protein, humanIntercellular Signaling Peptides and ProteinsKISS1 protein, humanKISS1R protein, humanKisspeptinsMembrane ProteinsMKRN3 protein, humanReceptors, Kisspeptin-1RibonucleoproteinsUbiquitin-Protein Ligases

Identifiers

PMID31460623
PMCPMC10528652
OpenAlexW2969790588

What OpenQuestion holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.