ArticleRare diseases (Austin, Tex.)2013
IGSF1 deficiency syndrome: A newly uncovered endocrinopathy.
Article in Rare diseases (Austin, Tex.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
26 citing papers in PubMed, 37 citations in OpenAlex.
- Approach to the patient: genetics and management of congenital hypothyroidism.The Journal of clinical endocrinology and metabolism · 2026Article
- Carrier screening in the reproductive setting-Are there medical implications for the heterozygote?-A guide for clinicians.Pregnancy (Hoboken, N.J.) · 2026Review
- Identification of a Novel Nonsense Mutation in theChildren (Basel, Switzerland) · 2025Article
- Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders.Molecular cytogenetics · 2025Article
- Isolated hypoprolactinemia: The rarest of the rare?Reviews in endocrine & metabolic disorders · 2024Review
- Integrating DNA/RNA microbe detection and host response for accurate diagnosis, treatment and prognosis of childhood infectious meningitis and encephalitis.Journal of translational medicine · 2024Article
- A novel variant ofClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2024Article
- A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by HighJournal of clinical research in pediatric endocrinology · 2023Article
- Rare case of central congenital hypothyroidism due to aBMJ case reports · 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
- Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.Andrology · 2022Article
- IGSF1 Deficiency Leads to Reduced TSH Production Independent of Alterations in Thyroid Hormone Action in Male Mice.Endocrinology · 2022Article
- Article
- The extant immunoglobulin superfamily, member 1 gene results from an ancestral gene duplication in eutherian mammals.PloS one · 2022Article
- A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) inJournal of clinical research in pediatric endocrinology · 2021Article
- Hypoprolactinemia as a Clue to Diagnosis of Mild Central Hypothyroidism due toJournal of clinical research in pediatric endocrinology · 2020Article
- Less known aspects of central hypothyroidism: Part 2 - Congenital etiologies.Journal of clinical & translational endocrinology · 2018Review
- From Consternation to Revelation: Discovery of a Role for IGSF1 in Pituitary Control of Thyroid Function.Journal of the Endocrine Society · 2018Review
- TRH Action Is Impaired in Pituitaries of Male IGSF1-Deficient Mice.Endocrinology · 2017Article
- Analysis of large versus small dogs reveals three genes on the canine X chromosome associated with body weight, muscling and back fat thickness.PLoS genetics · 2017Article
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 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A recently uncovered X-linked syndrome, caused by loss-of-function of IGSF1, is characterized by congenital central hypothyroidism and macroorchidism, variable prolactin deficiency, occasional growth hormone deficiency, delayed pubertal testosterone secretion and obesity. We propose to call this endocrinopathy "IGSF1 deficiency syndrome." Based on an estimated incidence of isolated congenital central hypothyroidism of 1:65,000, we predict that the incidence of IGSF1 deficiency related hypothyroidism is approximately 1:100,000. IGSF1 encodes a plasma membrane immunoglobulin superfamily glycoprotein that is highly expressed in pituitary and testis, but is of unknown function. The variable profile of pituitary dysfunction suggests that IGSF1 may play a role in pituitary paracrine regulation. The clinical significance of the syndrome, particularly the clinical consequences of untreated hypothyroidism, justifies screening family members of patients with IGSF1 mutations for carriership and to study potential carriers of IGSF1 mutations, including patients with idiopathic central hypothyroidism, combined GH and TSH deficiency, macroorchidism or delayed puberty.
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.