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Several different proteins regulate, directly or indirectly, the production of growth hormone from the pituitary
gland, thereby complex genetics is involved. Defects in these genes are related to growth hormone deficiency solely, or deficiency of other hormones, secreted from the pituitary gland including growth hormone. These studies can aid clinicians to
trace the pattern of the disease between the families, start early treatment and predict possible future consequences. This paper highlights some of the most common and novel genetic anomalies concerning growth hormone, which are responsible
for various genetic defects in isolated growth and combined pituitary hormone deficiency disease.
Possible effects of an early diagnosis and treatment in patients with growth hormone deficiency: the state of art