ArticlePituitary2021
Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil.
Article in Pituitary, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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Who cites it
4 citing papers in PubMed, 10 citations in OpenAlex.
- Distinguishing benign from pathogenic duplications involving GPR101 and VGLL1-adjacent enhancers in the clinical setting with the bioinformatic tool POSTRE.NPJ genomic medicine · 2026Article
- Tall stature and gigantism in transition age: clinical and genetic aspects-a literature review and recommendations.Journal of endocrinological investigation · 2024Review
- Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism.Frontiers in endocrinology · 2024Article
- Effective Long-term Pediatric Pegvisomant Monotherapy to Final Height in X-linked Acrogigantism.JCEM case reports · 2023Article
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Authors and funding
12 authors at 4 institutions in 3 countries.
Funding
Abstract
purposeNon-syndromic pituitary gigantism (PG) is a very rare disease. Aryl hydrocarbon receptor-interacting protein (AIP) and G protein-coupled receptor 101 (GPR101) genetic abnormalities represent important etiologic causes of PG and may account for up to 40% of these cases. Here, we aimed to characterize the clinical and molecular findings and long-term outcomes in 18 patients (15 males, three females) with PG followed at a single tertiary center in Sao Paulo, Brazil.
methodsGenetic testing for AIP and GPR101 were performed by DNA sequencing, droplet digital PCR and array comparative genomic hybridization (aCGH).
resultsPathogenic variants in the AIP gene were detected in 25% of patients, including a novel variant in splicing regulatory sequences which was present in a sporadic male case. X-LAG due to GPR101 microduplication was diagnosed in two female patients (12.5%). Of interest, these patients had symptoms onset by age 5 and 9 years old and diagnosis at 5 and 15 years, respectively. X-LAG, but not AIP, patients had a significantly lower age of symptoms onset and diagnosis and a higher height Z-score when compared to non-X-LAG. No other differences in clinical features and/or treatment outcomes were observed among PG based on their genetic background.
conclusionWe characterize the clinical and molecular findings and long-term outcome of the largest single-center PG cohort described so far.
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