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References OMIM Gene GeneReviews HGMD HGNC
last update : 06-10-2021
Symbol CPHD1
Location 3p11.2
Name pituitary dwarfism, with combined deficiency of TSH, GH and PRL
Corresponding gene POU1F1
Other symbol(s) PIT1
Main clinical features
  • linked to age-dependent anterior pituitary hypoplasia
  • associated to infancy severe growth deficiency from birth as well as distinctive facial features with prominent forehead, marked midfacial hypoplasia with depressed nasal bridge, deep-set eyes, and a short nose with anteverted nostrils and hypoplastic pituitary gland on MRI examination
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder endocrinology
    Type disease
    Gene product
    Name pituitary specific transcription factor (POU1F1)
  • variants that shift splicing to favor the repressive beta isoform of POU1F1 are associated to CPHD1 (PMID: 34270938))
  • P76L mutation, which segregates perfectly with the severe growth retardation, involves a conformation modification of the POU1F1 protein that affects cofactors and DNA interactions that impact specifically the hGH1 transcriptional level of expression (PMID: 26612202))