ReviewMolecular and cellular endocrinology2018
Genes underlying delayed puberty.
Review in Molecular and cellular endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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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.
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.
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Who cites it
12 citing papers in PubMed, 32 citations in OpenAlex.
- Optogenetic control of transition to metamorphosis.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Neurotrophic Control of Puberty: From Molecular Signaling to Disorders of Pubertal Timing.Current issues in molecular biology · 2025Review
- IGSF10 is a RET antagonist regulating Ewing sarcoma growth and GnRH neuron migration.Cell reports · 2025Article
- Current clinical management of constitutional delay of growth and puberty.Italian journal of pediatrics · 2022Review
- Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty.European journal of endocrinology · 2021Article
- The effect of early puberty suppression on treatment options and outcomes in transgender patients.Nature reviews. Urology · 2020Review
- DLG2 variants in patients with pubertal disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Article
- The Genetic Basis of Delayed Puberty.Frontiers in endocrinology · 2019Review
- Genome-wide DNA methylation analysis of pituitaries during the initiation of puberty in gilts.PloS one · 2019Article
- HS6ST1 Insufficiency Causes Self-Limited Delayed Puberty in Contrast With Other GnRH Deficiency Genes.The Journal of clinical endocrinology and metabolism · 2018Article
- A classification of genes involved in normal and delayed male puberty.Asian journal of andrologyReview
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
The genetic control of pubertal timing has been a field of active investigation for the last decade, but remains a fascinating and mysterious conundrum. Self-limited delayed puberty (DP), also known as constitutional delay of growth and puberty, represents the extreme end of normal pubertal timing, and is the commonest cause of DP in both boys and girls. Familial self-limited DP has a clear genetic basis. It is a highly heritable condition, which often segregates in an autosomal dominant pattern (with or without complete penetrance) in the majority of families. However, the underlying neuroendocrine pathophysiology and genetic regulation has been largely unknown. Very recently novel gene discoveries from next generation sequencing studies have provided insights into the genetic mutations that lead to familial DP. Further understanding has come from sequencing genes known to cause GnRH deficiency, next generation sequencing studies in patients with early puberty, and from large-scale genome wide association studies in the general population. Results of these studies suggest that the genetic basis of DP is likely to be highly heterogeneous. Abnormalities of GnRH neuronal development, function, and its downstream pathways, metabolic and energy homeostatic derangements, and transcriptional regulation of the hypothalamic-pituitary-gonadal axis may all lead to DP. This variety of different pathogenic mechanisms affecting the release of the puberty 'brake' may take place in several age windows between fetal life and puberty.
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Registered trials
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.