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Somatotrophic deficiency (DS) may due to a deficiency of GHRH, Growth Hormone (GH) or IGF-I. Although their clinical characteristics have been thoroughly described, the laboratory diagnosis of SD is still controversial. Effective treatment with GH or IGF-I is available for these patients, but Chile does not provide this treatment for patients with SD. In this study we present the main clinical, etiologic and laboratory characteristics of 72 SD patients (42 males and 30 females), referred to our institution between 1990-1996. All of them showed severe growth retardation. The diagnosis was established by the lack of response to 2 stimulation tests (Clonidine. Glugagon and Insulin) associated with low levels of IGF-I and/or IGFBP-3. Results are shown in the table (mean ± SD). A group of 25/72 patients have been treated with GH during a period of 1,5 ± 0,4 years, in a protocol of investigation. Their height recovered from 4,3 ± 1,2 SD to -3,1 ± 1,5 DS. Conclusions: We present 72 SD cases, the mayor series published in our country. The high percentage of organic and genetic aetiology in our cases may be due to the systematic search for these pathologies. The DS of genetic origin (Laron, Gene Mutations and Pit 1) exhibit a greater growth retardation. The majority of SD patients respond very well to GH treatment. This emphasizes the need for all patients with SD to have access to this treatment.
Garcia, H., Avila, A., Arteche, I. et al. Somatotrophic Deficiency: Clinical and Laboratory Characteristics in 72 Patients.
Pediatr Res45, 438 (1999). https://doi.org/10.1203/00006450-199903000-00029