Russell-Silvera's syndrome

Description:

Russell-Silvera's syndrome the inborn disease which is characterized by a pre-natal growth inhibition of a fruit, late closing of a big fontanel, disturbance of formation of a skeleton. The mode of inheritance is unknown. Meets in most cases sporadic, however also single family trees with this pathology are described. Frequency in population 1:30 000. Occurs equally, both at men, and at women.

Reasons of a syndrome of Russell-Silvera:

The genetic disorders leading to similar malformations are considered as a cause of illness. Children with this pathology have the small length and body weight at the birth. The considerable growth inhibition and bone maturing is observed and further.

Excess of gonadotropic hormones is the main reason of premature puberty at this disease.

Symptoms of a syndrome of Russell-Silvera:

Children are born small length (to 45 cm) and with the small body weight (1,5 — 2,5 kg). Over the years lag in growth remains, in communication with what final growth at women less than 150 cm, at men of the few higher than 150 cm. Body weight at adults normal or even excessive. Anomalies of an urinary system and external genitals are frequent: cryptorchism, hypospadias, hypoplasia of a penis, scrotum. Asymmetry of a body (a face, a trunk, length of legs) is characteristic. Person of triangular shape: pseudo-hydrocephaly, a big forehead and a hypoplasia of a mandible, the high sky, it is frequent with a crevice, the bulged ears. Narrow thorax, short hands, lumbar lordosis. Sexual development advances age (in 30% of cases), begins in 5-6 years and is caused by gonadotropic stimulation of ovaries. The intelligence is kept in most cases.

Treatment of a syndrome of Russell-Silvera:

Since 1985 for treatment of children with somatotropic insufficiency genetically engineered drugs of a growth hormone of the person are used only.

Now in Russia underwent clinical approbation and the following recombinant drugs of a growth hormone of the person are allowed for use: Norditropin Rnordiletr (It is new Nordisk, Denmark); хуматроп (Lilly Frans, France); генотропин (Pfayzer Hels of AB, Sweden); сайзен (Pharmasyjutic Serrano S. Industry of the item. And., Italy); растан (Pharmstandard, Russia).

At treatment of a pituitary nanism children have an accurate communication "a dose – growth effect", especially expressed in the first year of treatment. The recommended standard dose of STG at therapy of classical deficit of STG – 0, 033 mg/kg / on an injection, daily, subcutaneously, in the evening 20.00-22.00.

Criterion of efficiency of therapy is increase in growth rate from initial several times. It reaches in the first year of treatment, according to different authors, from 8 to 13 cm a year. The maximum growth rate is noted in the first year of treatment, especially in the first 3-6 months, then delay of growth rate from first by second year of treatment (takes place at preservation of growth rate more than 5-6 cm a year).