Abstract:

Objective: The aim of this study was to describe the characteristics and the aetiological profile of patients with growth hormone deficiency (GHD) Material and Method: Among randomly selected 320 cases with short stature with a height SDS<-3SD, 203 patients with diagnosis of GHD were evaluated with respect to their characteristics at diagnosis. Results: 86 patients (42.4%) had idiopathic GHD, 79 patients (39%) had congenital GHD, 14 patients (6.9%) had defined syndromes with GHD and 10 patients (5%) had acquired GHD. Number of patients with isolated GHD was 154 (81.5%) and with multiple pituitary hormone deficiency (MPHD) was 35 (18.5%) among classified cases. The most common accompanying hormone deficiency was TSH deficiency in GHD aetiologies with MPHD. Hypophyseal pathologies were most commonly seen in congenital and acquired GHD cases. Noonan syndrome was the most common syndrome with an accompanying GHD. The bone age delay was found to be over 2 years in congenital GHD. The mean IGF-1 SD score and the mean peak growth hormone stimulation tests’ values were significantly low in congenital GHD. Conclusions: Precise assessment of auxological, clinical and laboratory data could provide substantial value in the evaluation of severely short statured children with GHD.

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