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

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

Journal of pediatric endocrinology & metabolism : JPEM - 28 Mar 2018

Yamaguchi Takeshi, Hothubo Tomoyuki, Morikawa Shuntaro, Nakamura Akie, Mori Toshihiko, Tajima Toshihiro

Abstract excerpt

BACKGROUND: IGSF1 abnormality causes diverse symptoms, including congenital central hypothyroidism (CCH), prolactin hyposecretion, testicular enlargement and delayed puberty. CASE PRESENTATION: Here, we report a case of a male patient who visited our hospital with a chief complaint of abdominal pain and short stature, in whom we identified a novel IGSF1 mutation. He was closely examined because of chronic...

Read the complete abstract on PubMed

Topics

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

Share to Abdominal Pain
Share to Body Height

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Congenital Hypothyroidism

Share to Constipation

Share to Hormone Replacement Therapy

Share to Immunoglobulins

Share to Puberty, Delayed

Share to Thyroxine

Source

Identifiers

PMID: 29425110
DOI: 10.1515/jpem-2017-0144

Genes

IGSF1
PRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation.PMID 29425110Read ↗

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

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

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

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

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

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

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

IGSF1 variants in boys with familial delayed puberty.Semantic proximity Read ↗

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