Background: GH deficiency (GHD), can either be isolated (IGHD) or part of multiple pituitary hormone deficiency (MPHD), is a pituitary hormone disorder that manifests with short stature.
Objective and hypotheses: To evaluate the presenting characteristics, auxological and etiologic factors of GHD in a large cohort from a single tertiary paediatric endocrine centre.
Methods: Hospital files of patients followed with GHD deficiency at Diyarbakir Childrens State Hospital, between the year 2010 and 2014, were reviewed.
Results: The number of patients recruited was 364 (n=221; 60.7% male). The mean age of the diagnosis was 10.4±3.3 (range: 0.517.3). Patients with IGHD (n=312; 85.7%) constituted the largest group followed by patients with MPHD (n=35; 9.6%), and bioinactive GH (n=15; 4.1%). While female patients were presented earlier (mean age: 9.8±2.9) than males (mean age: 10.8±3.4) (P=0.002), the mean height-S.D.s at presentation was not statistically different (mean height-S.D.s was −2.8±1.1 and −2.7±1.1 respectively, P=0.310). There was no a statistically significant difference between the age of presentation of patients with IGHD and MPHD (P=0.924). However, compared to the patients with IGHD, patients with MPHD was shorter at the time of the diagnosis (mean height S.D.s was −3.5±1.6 and −2.5±1.0 respectively, P<0.001). In 28 out of 35 patients MPHD was idiopathic, whereas in seven patients craniopharyngioma was the underlying pathology. While in 336 out of 364 patients (92.3%) GHD was sporadic, 28 patients (7.7%) had familial GHD. Although presented younger, patients with familial GHD had lower height-S.D.s compared to the sporadic group (Mean age of the diagnosis was 8.6±3.9 vs 10.4±3.2; P=0.027 and mean height-SDS was −3.5±1.7 vs −2.7±1.0; P<0.001 respectively).
Conclusion: In this male predominant large cohort of GHD patients, MPHD patients account for about 10% of patients. Except for earlier presentation of females, no phenotypical diversity was observed between the male and female patients. Patients with familial GHD were presented earlier and had a more severe clinical phenotype.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology