Evidence map›Paper›PMID 32698138›Full record

ReviewEuropean journal of endocrinology2020

GENETICS IN ENDOCRINOLOGY: Genetic etiologies of central precocious puberty and the role of imprinted genes.

Stephanie A Roberts, Ursula B Kaiser

Open access · greenAbstract readReview
In one paragraph

Review in European journal of endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
54citing papers in PubMed, 1 pooled it
13.5field-weighted citation impact, top 1% 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

54 citing papers in PubMed, 1 synthesis or guideline pooled it, 98 citations in OpenAlex.

  1. Pooled it
  2. Trial
  3. Association Study BetweenInternational journal of molecular sciences · 2026
    Article
  4. Article
  5. Article
  6. Review
  7. Dual Role of DLK1 in GnRH Neuron Ontogeny.Stem cell reviews and reports · 2025
    Article
  8. Article
  9. Review
  10. Article
  11. Bioinformatics analysis explores key pathways and hub genes in central precocious puberty.Journal of pediatric endocrinology & metabolism : JPEM · 2025
    Article
  12. Article
  13. Diagnostics (Basel, Switzerland) · 2025
    Article
  14. Review
  15. Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. Review
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

2 authors at 1 institution in 1 country.

Stephanie A RobertsDivision of Endocrinology, Boston Children's Hospital, Boston, Massachusetts, USA.ORCID 0000-0002-2811-1322
Ursula B KaiserDivision of Endocrinology, Diabetes and Hypertension, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Brigham and Women's Hospital · US

Funding

Hormones/Genes in Women's Health: From Bench to BedsideK12HD051959 · NICHD · BRIGHAM AND WOMEN'S HOSPITAL · PI GOLDSTEIN, JILL M, REXRODE, KATHRYN M · 2005 to 2023
$8.8M
Deciphering the functional role of MKRN3 in puberty and reproductionR01HD082314 · NICHD · BRIGHAM AND WOMEN'S HOSPITAL · PI Ursula B. Kaiser · 2015 to 2026
$5.7M
Integrated analysis of genetic and epigenetic variants in central precocious pubertyR21HD098684 · NICHD · BRIGHAM AND WOMEN'S HOSPITAL · PI KAISER, URSULA B. · 2020 to 2021
$492k
NICHD NIH HHS K12 HD051959NICHD NIH HHS R01 HD082314NICHD NIH HHS R21 HD098684
6 · The paper itself

Abstract

Pubertal timing is regulated by the complex interplay of genetic, environmental, nutritional and epigenetic factors. Criteria for determining normal pubertal timing, and thus the definition of precocious puberty, have evolved based on published population studies. The significance of the genetic influence on pubertal timing is supported by familial pubertal timing and twin studies. In contrast to the many monogenic causes associated with hypogonadotropic hypogonadism, only four monogenic causes of central precocious puberty (CPP) have been described. Loss-of-function mutations in Makorin Ring Finger Protein 3(MKRN3), a maternally imprinted gene on chromosome 15 within the Prader-Willi syndrome locus, are the most common identified genetic cause of CPP. More recently, several mutations in a second maternally imprinted gene, Delta-like noncanonical Notch ligand 1 (DLK1), have also been associated with CPP. Polymorphisms in both genes have also been associated with the age of menarche in genome-wide association studies. Mutations in the genes encoding kisspeptin (KISS1) and its receptor (KISS1R), potent activators of GnRH secretion, have also been described in association with CPP, but remain rare monogenic causes. CPP has both short- and long-term health implications for children, highlighting the importance of understanding the mechanisms contributing to early puberty. Additionally, given the role of mutations in the imprinted genes MKRN3 and DLK1 in pubertal timing, other imprinted candidate genes should be considered for a role in puberty initiation.

Indexed as

AdolescentChildFemaleGenome-Wide Association StudyGenomic ImprintingHumansKisspeptinsMaleMutationPubertyPuberty, PrecociousReceptors, Kisspeptin-1KISS1 protein, humanKISS1R protein, humanKisspeptinsReceptors, Kisspeptin-1

Identifiers

PMID32698138
PMCPMC7682746
OpenAlexW3041641661

What OpenQuestion holds

Textmetadata
LicenceTDM
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.