Table 3.

Established Genetic Defects Resulting in GHD and Potential for MPHD

Gene	Inheritance	Phenotype
HESX1	AR	Septo-optic dysplasia; variable involvement of pituitary hormones
PROP1	AR	GH, PRL, TSH, LH, FSH deficiencies; variable ACTH deficiency
POU1F1 (Pit1)	AR, AD	GH, PRL deficiencies; variable degree of TSH deficiency
RIEG	AD	Rieger syndrome
LHX3	AR	GH, TSH, LH, FSH, PRL deficiencies
LHX4	AD	GH, TSH, ACTH deficiencies
SOX3	X-linked	GHD, mental retardation
GLI2	AD	Holoprosencephaly, hypopituitarism
GLI3	AD	Pallister-Hall syndrome, hypopituitarism
OTX2	AD	TSH, GH, LH, FSH deficiencies; variable ACTH and PRL deficiency
FGF8	AD	Holoprosencephaly, hypopituitarism
FGFR1	AD	Hypoplasia of pituitary, corpus callosum; ocular defects, hypopituitarism
IGSF1	X-linked	TSH deficiency; variable GH and PRL deficiency; macro-orchidism

Abbreviations: AD, autosomal dominant; AR, autosomal recessive. [Adapted from P. F. Backeljauw et al: Disorders of growth. In: Sperling MA, ed. Textbook of Pediatric Endocrinology (in press).]