Table 7.2.3.1 Open in new tab Human... | Oxford Academic

Table 7.2.3.1

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Human mutations causing isolated GH deficiency (IGHD) or multiple pituitary hormone deficiencies (MPHD)

Gene mutated	Phenotype	Inheritance
GH1	Isolated growth hormone deficiency	AR, AD
GHRHR	Isolated growth hormone deficiency	AR
POU1F1 (PIT1)	Multiple pituitary hormone deficiency (MPHD)	AR, AD
PROP-1	MPHD	AR
HESX1	MPHD + septo-optic dysplasia	AR, AD
LHX3>	MPHD ± rigid cervical spine	AR
LHX4	MPHD + cerebellar abnormalities	AD
SOX3	MPHD + mental retardation	XL

Gene mutated	Phenotype	Inheritance
GH1	Isolated growth hormone deficiency	AR, AD
GHRHR	Isolated growth hormone deficiency	AR
POU1F1 (PIT1)	Multiple pituitary hormone deficiency (MPHD)	AR, AD
PROP-1	MPHD	AR
HESX1	MPHD + septo-optic dysplasia	AR, AD
LHX3>	MPHD ± rigid cervical spine	AR
LHX4	MPHD + cerebellar abnormalities	AD
SOX3	MPHD + mental retardation	XL

AR, autosomal recessive, AD autosomal dominant, XL, X-linked inheritance.