ArticleThe Journal of clinical endocrinology and metabolism2020
IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction.
Article in The Journal of clinical endocrinology and metabolism, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 36 citations in OpenAlex.
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- The molecular basis of hypoprolactinaemia.Reviews in endocrine & metabolic disorders · 2024Review
- Isolated hypoprolactinemia: The rarest of the rare?Reviews in endocrine & metabolic disorders · 2024Review
- The hypothalamic-pituitary-thyroid axis is intact in male insulin receptor substrate 4 knockout mice.European thyroid journal · 2024Article
- Article
- A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by HighJournal of clinical research in pediatric endocrinology · 2023Article
- Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.Hormones (Athens, Greece) · 2023Review
- The First Pituitary Proteome Landscape From Matched Anterior and Posterior Lobes for a Better Understanding of the Pituitary Gland.Molecular & cellular proteomics : MCP · 2023Article
- Novel neoplasms associated with syndromic pediatric medulloblastoma: integrated pathway delineation for personalized therapy.Cell communication and signaling : CCS · 2022Article
- IGSF1 Deficiency Leads to Reduced TSH Production Independent of Alterations in Thyroid Hormone Action in Male Mice.Endocrinology · 2022Article
- The extant immunoglobulin superfamily, member 1 gene results from an ancestral gene duplication in eutherian mammals.PloS one · 2022Article
- Article
- The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular GrowthJournal of clinical research in pediatric endocrinology · 2021Article
- IGSF1 Does Not Regulate Spermatogenesis or Modify FSH Synthesis in Response to Inhibins or Activins.Journal of the Endocrine Society · 2021Article
- Genetics of Acromegaly and Gigantism.Journal of clinical medicine · 2021Review
- The clinical aspects of pituitary tumour genetics.Endocrine · 2021Review
- Diagnosis and Management of Central Congenital Hypothyroidism.Frontiers in endocrinology · 2021Review
- Novel Insights into Pituitary Tumorigenesis: Genetic and Epigenetic Mechanisms.Endocrine reviews · 2020Review
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Authors and funding
26 authors at 9 institutions in 6 countries.
Funding
Abstract
contextThe X-linked immunoglobulin superfamily, member 1 (IGSF1), gene is highly expressed in the hypothalamus and in pituitary cells of the POU1F1 lineage. Human loss-of-function mutations in IGSF1 cause central hypothyroidism, hypoprolactinemia, and macroorchidism. Additionally, most affected adults exhibit higher than average IGF-1 levels and anecdotal reports describe acromegaloid features in older subjects. However, somatotrope function has not yet been formally evaluated in this condition.
objectiveWe aimed to evaluate the role of IGSF1 in human and murine somatotrope function. PATIENTS, DESIGN, AND
settingWe evaluated 21 adult males harboring hemizygous IGSF1 loss-of-function mutations for features of GH excess, in an academic clinical setting.
main outcome measuresWe compared biochemical and tissue markers of GH excess in patients and controls, including 24-hour GH profile studies in 7 patients. Parallel studies were undertaken in male Igsf1-deficient mice and wild-type littermates.
resultsIGSF1-deficient adult male patients demonstrated acromegaloid facial features with increased head circumference as well as increased finger soft-tissue thickness. Median serum IGF-1 concentrations were elevated, and 24-hour GH profile studies confirmed 2- to 3-fold increased median basal, pulsatile, and total GH secretion. Male Igsf1-deficient mice also demonstrated features of GH excess with increased lean mass, organ size, and skeletal dimensions and elevated mean circulating IGF-1 and pituitary GH levels.
conclusionsWe demonstrate somatotrope neurosecretory hyperfunction in IGSF1-deficient humans and mice. These observations define a hitherto uncharacterized role for IGSF1 in somatotropes and indicate that patients with IGSF1 mutations should be evaluated for long-term consequences of increased GH exposure.
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