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combined pituitary hormone deficiency (pituitary dwarfism 3)
Pathology:
- impaired production of growth hormone & one or more of the other 5 anterior pituitary hormones (PROP1)
- complete deficiciency in all pituitary hormones but ACTH (LHX3, HESX)
Genetics:
- associated with defects in LHX3, HESX1, PROP1
Clinical manifestations:
- rigid cervical spine leading to limited head rotation
General
genetic disease of the endocrine system
Database Correlations
OMIM 262600
References
OMIM :accession 262600