Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene

Article Abstract:

A 15-year-old boy had failed to grow adequately because of a partial deletion of the insulin-like growth factor I (IGF-I) gene. The boy had persistent growth retardation prior to birth and all his life. IGF-I may be crucial for the development of a normal central nervous system, a connection borne out by his deafness and mental retardation. The boy's growth hormone concentrations reached abnormal highs and lows throughout the day, and the patient's parents and sister were quite shorter than average. They also had borderline low IGF-I concentrations. Molecular analysis established the patient's genetic defect in exons 4 and 5 of the IGF-I gene.

Fetus, Genetic aspects, Fetal growth retardation, Chromosome deletion, Stature, Short, Short stature

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Growth hormone insensitivity associated with a STAT5b mutation

Article Abstract:

The case of a 16-year-old girl who had a severe growth deficiency is reported who had a mutation in the gene for a protein called STAT5b. This protein is produced during growth hormone stimulation. She was about four feet tall and did not grow any taller after one year of growth hormone therapy.

Somatotropin, Growth disorders

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Deficiency of the circulating insulin-like growth factor system associated with inactivation of the acid-labile subunit gene

Article Abstract:

A delayed onset of puberty, slow pubertal progress and minimal slowing of linear growth in a 17-year old boy is reported. A study revealed that the proclatin and cortisol levels and thyroid function were normal in this patient.

United States, Health aspects, Care and treatment, Puberty

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