Abstract

ESPINOSA REYES, Tania et al. Familial isolated GH deficiency: report of the first case in Cuba. Rev Cubana Endocrinol [online]. 2006, vol.17, n.1, pp. 0-0. ISSN 1561-2953.

The isolated GH deficiency is an affection of congenital or acquired nature characterised by the partial or total absence of GH detectable in plasma or serum. It is reported the case of an 11-year-old white male patient that received medical attention due to a marked delay of growth and development with height/age corresponding to 4.4 years old and GH figures that were not over 10 ng/mL in pharmacological tests. The rest of the hormonal study was within the normal parameters. Low height was observed in the mother and the hormonal study had similar results. The search for low height individuals in the family showed the same characteristics in the maternal grandmother and great-grandmother. A familial isolated GH deficiency type II with pattern of autosomal dominant inheritance was diagnosed. Treatment with biosynthetic growth hormone was indicated with satisfactory results. It was concluded that the study of genealogy of an index case allows to explain the presence of other affected subjects and to establish the patterns of transmission of the genetic disease

Keywords : Isolated GH deficiency; family deficiency.

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