ReviewGenes2023
A Rare Case of Precocious Puberty in a Child with a Novel
Review in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed, 7 citations in OpenAlex.
- Post-translational modification of proteins in the human testis development pathway.Human reproduction update · 2026Review
- Risk factors and preventive strategies for precocious puberty: a narrative review.Frontiers in pediatrics · 2026Review
- Molecular characterization and expression analysis of GATA1 in the blood clam Anadara granosa reveals its role in gonadal development.BMC genomics · 2025Article
- Close relationship, similar phenotype of GATA4 and NR5A1 mutations: gonadal dysgenesis and puberty development.Journal of endocrinological investigation · 2025Article
- Dilated cardiomyopathy, extensive subendocardial fibrosis and myocardial non-compaction in a patient with sex development disorder: a rare case of myelin regulatory factor-related cardiac-urogenital syndrome.Quantitative imaging in medicine and surgery · 2025Article
- Review
- Article
- Role ofCurrent issues in molecular biology · 2024Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDisorders/Differences of sex development (DSD) are often due to disruptions of the genetic programs that regulate gonad development. The CASE DESCRIPTION: A child with a history of micropenis and cryptorchidism. At 8 years of age, he came under our observation for an increase in sexual pubic hair (pubarche). The laboratory parameters and the GnRH test suggested a central precocious puberty (CPP). Treatment with GnRH analogs was started, and we decided to perform genetic tests for DSD. The NGS genetic investigation showed a novel and heterozygous variant in the DISCUSSION: In the literature, 26 cases with 46,XY DSD due to the
conclusionThe novel variant in the
Indexed as
Identifiers
What OpenQuestion holds
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.