Table 1.

Genes associated with combined pituitary hormone deficiency

Gene	Inheritance	OMIM gene	OMIM phenotype	OMIM phenotype ID	Gene function
PROP1	AR	601538	CPHD2	262600	Paired-like homeodomain transcription factor required for pituitary development
POU1F1	AD, AR	173110	CPHD1	613038	Regulation of expression of genes involved in pituitary development and hormone expression
HESX1	AD, AR	601802	CPHD5	182230	Transcriptional repressor expressed in developing forebrain and pituitary gland
LHX3	AR	600577	CPHD3	221750	LIM-containing domain transcription factor required for pituitary development and motor neuron specification
LHX4	AD	602146	CPHD4	262700	LIM-containing domain transcription factor required for pituitary development
SOX3	XLR	313430	PHPX	312000	Transcription factor required for pituitary function and development of CNS midline structures
OTX2	AD	600037	CPHD6	613986	Homeodomain-containing transcription factor required for brain, craniofacial and sensory organ development
GLI2	AD	165230	CJS	615849	Zinc finger transcription factor required for embryogenesis

CJS = Culler-Jones syndrome; CNS = central nervous system; CPHD = combined pituitary hormone deficiency; PHPX = panhypopituitarism, X-linked; AR = autosomal recessive; AD = autosomal dominant; XLR = X-linked recessive.