The etiologic profile of short stature in the south west of Romania between 2004-2009
Otilia Marginean1, Ioan Simedrea1, Dana Bucuras2, Ecaterina Pavel1, Adrian Craciun1, Ioana Maris1 & Camelia Daescu1
Background: Short stature can be a sign of a wide variety of pathologic conditions or inherited disorders.
Aim: To show the etiology of short stature in our region in order to asses the rationale treatment and genetic advice.
Material and methods: Between January 2004 and December 2009, we have studied the prevalence and etiologic profile of the children admitted in the Endocrinology Department of Childrens Clinical Hospital Timisoara. The working protocole included: weight and length birth, gestational age, auxological parameters at admission in the hospital, morphogram, laboratory studies (usual BCC, GH level -basal and after stimulation, IGF1, DHEA, 17 OH progesterone, karyotype, in selected cases), bone age, MRI in selected cases.
Results: During a 5 years period, out of 71015 children, 9570 have been diagnosed with short stature, with a prevalence of 13.47%. The etiology of short stature was complex: Gh deficiency, 98 cases (1.024%), Idiophatic short stature, 5 cases (0.052), IGF1 deficiency, 6 cases (0.062%),Turner Syndrome, 6 cases (0.062%), Noonan syndrome, 1case (0.01%), Sekel Syndrome, 2 cases (0.02%), Crit du Chat, 1 case (0.01%), Cornelia de Lange, 3 cases (0.03%), Silver Russel, 1 case (0.01%), Prader-Willy, 2 cases (0.02%). Some of this children (Gh deficiency, Idiophatic short stature, Turner, Noonan and Silver Russel syndroms) have been treated with somatotropin according to the European and National standards and with the parents agreement.In all cases genetic advice was made.
Conclusions: 1. In our region the prevalence of short stature is relatively high.
2. The etiologic profile is quite various.
3. The incidence of genetic short stature is high and neonatal screening needs to be developed in order to achieve a prenatal diagnose.
4. A lot of parents dont have enough information about somatotropin and refuse the treatment.