Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type IA due to 6.7Kb Deletion of GH1 Gene.

Different Growth Responses to Recombinant Human Growth Hormone in Three Siblings with Isolated Growth Hormone Deficiency Type IA due to 6.7Kb Deletion of GH1 Gene. J Clin Res Pediatr Endocrinol. 2020 Sep 17;: Authors: Ghosh S, Chakraborty PP, Bankura B, Maiti A, Biswas R, Das M Abstract Isolated growth hormone (GH) deficiency type I A is a rare autosomal recessive disorder caused by deletion of the GH1 gene and characterized by early onset severe short stature and typical phenotype. Lack of exposure to GH during fetal life often leads to formation of anti-GH antibody following exposure to the least immunogenic recombinant human GH (rhGH). Some patients with circulating ant-GH antibodies demonstrate lack of growth response to GH while others do not. However, the clinical significance of this antibody is unclear hence not routinely recommended. Three siblings born of a consanguineous union were referred to us with severe short stature. They were evaluated and IGHD was diagnosed in all of them. Genetic analysis revealed homozygous 6.7 Kb deletions of GH1 gene in all of them while their parents displayed a pattern of heterozygous 6.7 Kb deletions. rhGH was started at 10, 6 and 17/12 years of age. Their growth and hormonal parameters were monitored throughout the course of treatment. The eldest sibling demonstrated usual growth velocity (9.5 cm/year) after start of therapy that rapidly waned after 1st year (2.5 cm/year). The youngest sibl...
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research