Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

IGSF1 variants in boys with familial delayed puberty.

European journal of pediatrics - 1 May 2015

Joustra Sjoerd D, Wehkalampi Karoliina, Oostdijk Wilma, Biermasz Nienke R, Howard Sasha, Silander Tanya L, Bernard Daniel J, Wit Jan M, Dunkel Leo, Losekoot Monique

Abstract excerpt

UNLABELLED: The immunoglobulin superfamily member 1 (IGSF1) gene encodes a plasma membrane glycoprotein mainly expressed in pituitary and testes. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism (CeH), macroorchidism, and delayed puberty (delayed rise of testosterone, but normal timing of testicular growth). As this syndrome was discovered in patients with CeH, it is...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Young Adult
Share to Sequence Analysis, DNA

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cross-Sectional Studies

Share to Genetic Variation

Share to Immunoglobulins

Share to Membrane Proteins

Share to Puberty, Delayed

Source

Identifiers

PMID: 25354429
DOI: 10.1007/s00431-014-2445-9

Genes

IGSF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

IGSF1 variants in boys with familial delayed puberty.PMID 25354429Read ↗

A Case of Congenital Central Hypothyroidism Caused by a Novel Variant (Gln1255Ter) in IGSF1 GeneSemantic proximity Read ↗

Case Report: A Detailed Phenotypic Description of Patients and Relatives with Combined Central Hypothyroidism and Growth Hormone Deficiency Carrying IGSF1 Mutations.Semantic proximity Read ↗

A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation.Semantic proximity Read ↗

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.Semantic proximity Read ↗

Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and MacroorchidismSemantic proximity Read ↗

Identification of an IGSF1-specific deletion in a five-generation pedigree with X-linked Central Hypothyroidism without macroorchidism.Semantic proximity Read ↗

Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism.Semantic proximity Read ↗

Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.Semantic proximity Read ↗

A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome.Semantic proximity Read ↗

Congenital Central Hypothyroidism Caused by a Novel IGSF1 Variant Identified in a French Family.Semantic proximity Read ↗

Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort.Semantic proximity Read ↗

A Japanese Family with Central Hypothyroidism Caused by a Novel IGSF1 Mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.