Deficiency of human growth hormone in children may lead to various problems. The problems of deficiency of human growth hormone in children are different from that seen in adults if there is deficiency of human growth hormone during adult life. The problems or clinical presentations of human growth hormone deficiency of growth hormone in children vary according to cause of the deficiency (like isolated deficiency, insensitivity to growth hormone, due to nutritional deficiency, Growth Hormone Releasing Hormone receptor mutation, psychological factors etc.).
The isolated human growth hormone deficiency is by far the commonest form of growth hormone deficiency. Isolated human growth hormone deficiency presents with typical symptoms and presentations that are different from other causes of growth hormone deficiency. The characteristic features of isolated growth hormone deficiency are short stature (for obvious reason of growth hormone deficiency growth is subnormal), increased percentage of fats, high pitched voice, small size penis etc. There is increased chance to develop hypoglycemia (low blood sugar level in blood) which is mainly due to unopposed or very minimal opposition to the action of insulin.
The cause of isolated human growth hormone deficiency is generally unknown, but in approximately one third of the cases of isolated human growth hormone deficiency there is genetical predisposition, which is transmitted as autosomal dominant, autosomal recessive, or X-linked.
In approximately 10% of cases of isolated human growth hormone in children there is mutation (may be point mutation) of respective genes.
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