Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Pituitary hormone deficiency type 4

Combined pituitary hormone deficiency with or without cerebellar defects is an autosomal dominant disorder caused by mutations of the LHX4 gene. Besides the deficiency in all pituitary hormones and short stature cerebellar defects may be detectable.

Systematic

Combined pituitary hormone deficiency
Pituitary hormone deficiency type 1
Pituitary hormone deficiency type 2
Pituitary hormone deficiency type 3
Pituitary hormone deficiency type 4
LHX4
Pituitary hormone deficiency type 5

References:

1.

Machinis K et. al. (2001) Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4.

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2.

Tajima T et. al. (2007) A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica.

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3.

Pfaeffle RW et. al. (2008) Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.

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4.

Ferrier PE et. al. (1969) Familial pituitary dwarfism associated with an abnormal sella turcica.

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Update: Sept. 26, 2018