ArticleEndocrine pathology2000
Central precocious puberty and abnormal chromosomal patterns.
Article in Endocrine pathology, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 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
7 citing papers in PubMed, 17 citations in OpenAlex.
- A rare occurrence of non-classic congenital adrenal hyperplasia and type 1 diabetes mellitus in a girl with Prader-Willi Syndrome: Case report and review of the literature.Frontiers in endocrinology · 2023Review
- Idiopathic central precocious puberty in a Klinefelter patient: highlights on gonadotropin levels and pathophysiology.Basic and clinical andrology · 2020Article
- Precocious and Early Central Puberty in Children With Pre-existing Medical Conditions: A Single Center Study.Frontiers in pediatrics · 2019Article
- Methylome profiling of healthy and central precocious puberty girls.Clinical epigenetics · 2018Article
- Precocious puberty in Turner Syndrome: report of a case and review of the literature.Italian journal of pediatrics · 2012Review
- Triple X syndrome in a patient with partial lipodystrophy discovered using a high-density oligonucleotide microarray: a case report.Journal of medical case reports · 2009Article
- Central precocious puberty and growth hormone deficiency in a boy with Prader-Willi syndrome.European journal of pediatrics · 2008Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Central precocious puberty (PP) can be caused by chromosomal aberrations. We report three patients presenting with central PP in whom karyotype analysis demonstrated abnormal chromosomal patterns. The first patient was affected by the triple-X syndrome, commonly characterized by premature ovarian failure. The second patient, a girl with inv dup(15)(pter-->q12::q12-->pter), had a chromosomal aberration involving an imprinted region of the human genome, whose deletion is commonly associated with Prader-Willi syndrome (PWS) and hypogonadotrophic hypogonadism. The third patient was a boy carrying a rare chromosome abnormality, the duplication of chromosome 9 (q22-->qter). All patients had mental retardation, which was mild in patient 1, moderate in patient 2, and severe in case 3. They underwent treatment with luteinizing hormone releasing hormone (LHRH) analogs, which were able to stop the progression of the sexual development. We confirm that chromosomal aberrations are an important cause of central PP, and that karyotype analysis in patients with PP and mental retardation, even if mild, is necessary because chromosomal abnormalities can be present.
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.