Severe primary IGF-1 deficiency

Severe primary IGF-1 (insulin-like growth factor 1, a protein that mediates the effects of growth hormone) deficiency causes delayed growth in children and adolescents, as well as a range of anatomical, morphological and physiological disorders. Learn more about the condition, its diagnosis and the different treatment options available.

 
Growth hormone treatment is not effective for children with primary IGF-1 deficiency, because the GH/IGF-1 pathway is blocked.

Cases of PIGFD can be classed as:

  • anomalies of the GH/IGF-1 pathway that can be treated with recombinant IGF-1, or
  • anomalies outside this pathway, including anomalies in the IGF-1 receptor, which do not respond to this treatment.

Type 1 human insulin-like growth factor derived from recombinant DNA for children with severe primary IGF-1 deficiency caused by anomalies in the GH/IGF-1 pathway is a long term treatment option for delayed growth caused by SPIGFD. It must be prescribed by a specialist when not counter-indicated. The treatment is administered by daily subcutaneous injection and the efficacy is evaluated based on the speed of growth. The dosage can be increased gradually, according to how well the treatment is tolerated by the patient.

Acromegaly

Acromegaly, or Pierre Marie's disease as it is sometimes called (after the first doctor to accurately describe the symptoms), is a hormonal disorder characterized by abnormal bone growth, enlarged hands and feet, and thickened, enlarged face. Learn more about this rare endocrine disease, its diagnosis and the different treatment options available.

Growth hormone deficiency

Growth hormone deficiency is often caused by a disorder in the hypothalamus or the pituitary gland and produces a number of negative consequences for both children and adults, including delayed growth and metabolic disorders, etc. Learn more about the condition, its diagnosis and the different treatment options available.

Precocious puberty

Precocious puberty refers to the appearance of secondary sexual characteristics before age 7 or 8 in girls and before age 9 in boys, without treatment. Paradoxically, it leads to large stature in childhood, but short stature in adulthood. Learn more about the condition, its diagnosis and the different treatment options available.

Turner syndrome

A condition that affects only girls and women, Turner syndrome is caused by the total or partial absence of one of the two X chromosomes. It causes short stature, infertility and a number of other problems. Learn more about the condition, its diagnosis and the different treatment options available.
Last update 13/04/2017