Endocrine Abstracts

Introduction: GH deficiency (GHD) is a rare etiology of late growth. Its exact prevalence is unknown in emerging countries such as Tunisia. Despite a very suggestive clinical presentation, the diagnosis of GHD remains difficult and relatively late in some patients. Our study examined 40 cases of GHD in the Sahel region of Tunisia.

Patients and methods: This is a retrospective longitudinal study of 40 cases of GHD collected in the pediatric department of Mahdia between 1994 and 2014.

Results: The mean age at diagnosis was 8.31±0.56 years with a sex ratio of 2.07. The mean height at the first visit was 111.38±2.99 cm. The mean bone age (BA) at the time of diagnosis was 5.12±0.5 years. The delay of BA over the chronological age was of 3.41±0.38 yearson average. the diagnosis of total GHD was found in 65% of patients and partial GHD in 35% of patients. Magnetic resonance imaging of the hypothalamic-pituitary region was normal in 60% of patients. Pituitary stalk interruption was observed in 10% of patients, an empty sella was observed in 7.5% of patients, a pituitary hypoplasia was observed in 5% of patients and a posterior pituitary ectopia was found in 5% of patients. The karyotype was only done in 6 patients. Five patients had a normal karyotype 46,XX and only one patient had a karyotype 46,Xi(Xq). The association of Turner syndrome and GHD has already been reported in the literature. Three patients had pubertal delay at the time of diagnosis. The diagnosis of simple pubertal delay was retained in two of them, while it was very likely a pubertal delay secondary to hypogonadotropic hypogonadism in the third.

Conclusion: Despite a very evocative clinical picture, the diagnosis of GHd remains difficult and relatively late in some patients. This delay is explained by the lack of knowledge of the pathology and by the absence of anthropometric monitoring.