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

Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and Macroorchidism

Journal of clinical research in pediatric endocrinology - 1 Jul 2026

Lee Yee Lin, Ting Tzer Hwu, Lim Chong Teik, Thilakavathy Karuppiah, Musa Nurul Huda, Ling King Hwa

Abstract excerpt

Immunoglobulin superfamily member 1 (IGSF1) mutation is the commonest cause of mild to moderate isolated central congenital hypothyroidism and has an X-linked recessive inheritance, primarily affecting males. Other notable clinical features are macro-orchidism with delayed pubertal testosterone rise, large birth weight, increased body mass index, low prolactin andtransient growth hormone deficiency. Two male...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Hypothyroidism
Share to Hypothyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Immunoglobulins

Share to Malaysia

Share to Membrane Proteins

Share to Pedigree

Share to Siblings

Share to Testis

Source

Open in PubMed Open full text

Identifiers

PMID: 38647408
DOI: 10.4274/jcrpe.galenos.2024.2023-12-1
PMCID: PMC13325900

Genes

IGSF1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Identification of a Novel IGSF1 Variant in Two Malaysian Male Siblings with Central Hypothyroidism and MacroorchidismPMID 38647408Read ↗

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

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

Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation.Semantic 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 Family with 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 ↗

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

A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 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 ↗

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

A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism.Semantic proximity Read ↗

Clinical and molecular analyses of isolated central congenital hypothyroidism based on a survey conducted in Japan.Semantic proximity Read ↗

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