Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

doi:10.1111/cen.14355

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

Community

Back to search

Article

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.

Clinical endocrinology - 1 Feb 2021

Jullien Nicolas, Saveanu Alexandru, Vergier Julia, Marquant Emeline, Quentien Marie Helene, Castinetti Frederic, Galon-Faure Noémie, Brauner Raja, Marrakchi Turki Zinet, Tauber Maité, El Kholy Mohamed, Linglart Agnès, Rodien Patrice, Fedala Nora Soumeya, Bergada Ignacio, Cortet-Rudelli Christine, Polak Michel, Nicolino Marc, Stuckens Chantal, Barlier Anne, Brue Thierry, Reynaud Rachel

Abstract excerpt

CONTEXT: The international GENHYPOPIT network collects phenotypical data and screens genetic causes of non-acquired hypopituitarism. AIMS: To describe main phenotype patterns and their evolution through life. DESIGN: Patients were screened according to their phenotype for coding sequence variations in 8 genes: HESX1, LHX3, LHX4, PROP1, POU1F1, TBX19, OTX2 and PROKR2. RESULTS: Among 1213 patients (1143 index...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Growth Hormone and Insulin-like Growth Factors

Share to Homeodomain Proteins

Share to Hypopituitarism

Share to Magnetic Resonance Imaging

Share to Mutation

Share to Pituitary Gland Disorders and Treatments

Share to Transcription Factors

Source

Open in PubMed

Identifiers

PMID: 33098107
DOI: 10.1111/cen.14355

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

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort.PMID 33098107Read ↗

Identification of genetic variants and phenotypic characterization of a large cohort of patients with congenital hypopituitarism and related disorders.Semantic proximity Read ↗

Hypopituitarism oddities: congenital causes.Semantic proximity Read ↗

Classical and non-classical causes of GH deficiency in the paediatric age.Semantic proximity Read ↗

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.Semantic proximity Read ↗

Pituitary Hypoplasia.Semantic proximity Read ↗

Developmental disorders of the hypothalamus and pituitary gland associated with congenital hypopituitarism.Semantic proximity Read ↗

Heritable disorders of pituitary development.Semantic proximity Read ↗

Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency.Semantic proximity Read ↗

PROP1, HESX1, POU1F1, LHX3 and LHX4 mutation and deletion screening and GH1 P89L and IVS3+1/+2 mutation screening in a Dutch nationwide cohort of patients with combined pituitary hormone deficiency.Semantic proximity Read ↗

[Congenital hypopituitarism: when should transcription factor gene screenings be performed?].Semantic proximity Read ↗

Molecular analysis of PROP1, PIT1, HESX1, LHX3, and LHX4 shows high frequency of PROP1 mutations in patients with familial forms of combined pituitary hormone deficiency.Semantic proximity Read ↗

Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.Semantic proximity Read ↗

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