Retrospective analysis of the phenotypic and genotypic spectrum of mutation proven POU1F1 patients and to compare them with the published literature.
Not Applicable
Completed
- Conditions
- Health Condition 1: E230- Hypopituitarism
- Registration Number
- CTRI/2020/05/025080
- Lead Sponsor
- Department of Endocrinology
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Completed
- Sex
- Not specified
- Target Recruitment
- 15
Inclusion Criteria
All patients with growth hormone who visited the Endocrine OPD from Jan 2002 till Dec 2019.
Exclusion Criteria
1.Mutations other than POU1F1.
2.Inadequate data
3.Insufficient Diagnosis
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method clinical co-relation of Genotype and Phenotype in POU1F1 Patient.Timepoint: 01 Year
- Secondary Outcome Measures
Name Time Method oneTimepoint: 01 Year
Related Research Topics
Explore scientific publications, clinical data analysis, treatment approaches, and expert-compiled information related to the mechanisms and outcomes of this trial. Click any topic for comprehensive research insights.
What molecular mechanisms underlie POU1F1 mutations in causing hypopituitarism (E230) and pituitary hormone deficiencies?
How do genotypic-phenotypic correlations in POU1F1 mutation cases compare to other transcription factor-related hypopituitarism?
Which POU1F1 mutation subtypes are associated with specific biomarkers for hypopituitarism severity prediction?
What are the management strategies for endocrine complications in POU1F1 mutation-proven hypopituitarism patients?
What combination therapies are being explored for POU1F1-related hypopituitarism in CTRI/2020/05/025080?