Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Pituitary hormone deficiency type 3

Combined pituitary hormone deficiency with rigid cervical spine is an autosomal recessive disorder caused by mutations of the LHX3 gene. The disease is characterized by lack of almost all pituitary hormones, stiff neck, and sensorineural deafness.


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



Freyd G et. al. (1990) Novel cysteine-rich motif and homeodomain in the product of the Caenorhabditis elegans cell lineage gene lin-11.


Way JC et. al. (1988) mec-3, a homeobox-containing gene that specifies differentiation of the touch receptor neurons in C. elegans.


Tsuchida T et. al. (1994) Topographic organization of embryonic motor neurons defined by expression of LIM homeobox genes.


Zhadanov AB et. al. (1995) Expression pattern of the murine LIM class homeobox gene Lhx3 in subsets of neural and neuroendocrine tissues.


Zhadanov AB et. al. (1995) Genomic structure and chromosomal localization of the mouse LIM/homeobox gene Lhx3.


Mbikay M et. al. (1995) Linkage mapping of the gene for the LIM-homeoprotein LIM3 (locus Lhx3) to mouse chromosome 2.


Sheng HZ et. al. (1996) Specification of pituitary cell lineages by the LIM homeobox gene Lhx3.


Sharma K et. al. (1998) LIM homeodomain factors Lhx3 and Lhx4 assign subtype identities for motor neurons.


Sloop KW et. al. (1999) Differential activation of pituitary hormone genes by human Lhx3 isoforms with distinct DNA binding properties.


Sloop KW et. al. (2000) Analysis of the human LHX3 neuroendocrine transcription factor gene and mapping to the subtelomeric region of chromosome 9.


Netchine I et. al. (2000) Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.


Sloop KW et. al. (2000) Molecular analysis of LHX3 and PROP-1 in pituitary hormone deficiency patients with posterior pituitary ectopia.


Sharma K et. al. (2000) Genetic and epigenetic mechanisms contribute to motor neuron pathfinding.


Thaler JP et. al. (2002) LIM factor Lhx3 contributes to the specification of motor neuron and interneuron identity through cell-type-specific protein-protein interactions.


Lee SK et. al. (2003) Synchronization of neurogenesis and motor neuron specification by direct coupling of bHLH and homeodomain transcription factors.


Bhangoo AP et. al. (2006) Clinical case seminar: a novel LHX3 mutation presenting as combined pituitary hormonal deficiency.


Pfaeffle RW et. al. (2007) Four novel mutations of the LHX3 gene cause combined pituitary hormone deficiencies with or without limited neck rotation.


Rajab A et. al. (2008) Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.

Update: Sept. 26, 2018