ArticleJournal of cellular and molecular medicine2017
Multi-genic pattern found in rare type of hypopituitarism: a whole-exome sequencing study of Han Chinese with pituitary stalk interruption syndrome.
Article in Journal of cellular and molecular medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Re-analysis of gene mutations found in pituitary stalk interruption syndrome and a new hypothesis on the etiology.Frontiers in endocrinology · 2024Pooled it
- New patients with duplication of the pituitary gland-plus syndrome, including aJournal of medical genetics · 2025Review
- Article
- Pulsatile gonadotropin-releasing hormone therapy induces spermatogenesis in pituitary stalk interruption syndrome: A case report and review of the literature.World journal of clinical cases · 2024Article
- Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.PloS one · 2023Article
- Pituitary stalk interruption syndrome: phenotype, predictors, and pathophysiology of perinatal events.Pituitary · 2022Article
- CDON gene contributes to pituitary stalk interruption syndrome associated with unilateral facial and abducens nerve palsy.Journal of applied genetics · 2021Article
- Advances in differential diagnosis and management of growth hormone deficiency in children.Nature reviews. Endocrinology · 2021Review
- Diversity of Pathological Conditions Affecting Pituitary Stalk.Journal of clinical medicine · 2021Article
- Pituitary stalk interruption syndrome and liver changes: From clinical features to mechanisms.World journal of gastroenterology · 2020Review
- Identification of novel candidate pathogenic genes in pituitary stalk interruption syndrome by whole-exome sequencing.Journal of cellular and molecular medicine · 2020Article
- Copy Number Variants Contributing to Combined Pituitary Hormone Deficiency.International journal of molecular sciences · 2020Article
- A Novel Missense Mutation in Human Receptor Roundabout-1Journal of clinical research in pediatric endocrinology · 2020Article
- Congenital pituitary hypoplasia model demonstrates hypothalamic OTX2 regulation of pituitary progenitor cells.The Journal of clinical investigation · 2020Article
- NBPF9 Gene May Be Involved in Congenital Hypopituitarism: A Whole-Genome Study of a Boy with Pituitary Stalk Interruption Syndrome and His Family.International journal of endocrinology · 2020Article
- SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).Frontiers in endocrinology · 2020Article
- Two Cases of Pituitary Stalk Interruption Syndrome in Syrian Children.Case reports in endocrinology · 2020Article
- Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in BothFrontiers in endocrinology · 2019Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pituitary stalk interruption syndrome (PSIS) is a rare type of hypopituitarism manifesting various degrees of pituitary hormone deficiency. Although mutations have been identified in some familial cases, the underpinning mechanisms of sporadic patients with PSIS who are in a vast majority remain elusive, necessitating a comprehensive study using systemic approaches. We postulate that other genetic mechanisms may be responsible for the sporadic PSIS. To test this hypothesis, we conducted a study in 24 patients with PSIS of Han Chinese with no family history using whole-exome sequencing (WES) and bioinformatic analysis. We identified a group of heterozygous mutations in 92% (22 of 24) of the patients, and these genes are mostly associated with Notch, Shh, Wnt signalling pathways. Importantly, 83% (20 of 24) of the patients had more than one mutation in those pathways suggesting synergy of compound mutations underpin the pathogenesis of sporadic PSIS.
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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.