Type IB Isolated Growth Hormone Deficiency

01/01/2018 - "A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib"
07/01/2009 - "The most frequent form (IGHD-IB) has autosomal recessive inheritance, and it is known that it can be caused by mutations in the GHRH receptor (GHRHR) gene or in the GH gene. "
01/01/2001 - "Unique mutations in the gene encoding the GHRH receptor (GHRHR) have previously been described in 2 kindreds with IGHD IB. "
11/01/1998 - "Phenotype and genetic analysis of a syndrome caused by an inactivating mutation in the growth hormone-releasing hormone receptor: Dwarfism of Sindh."
06/01/2003 - "The recently described syndrome of genetic GHRH receptor deficiency in Pakistan (dwarfism of Sindh) affords a unique opportunity to examine the question of GH deficiency on bone development because the affected patients have congenital, severe, isolated GH deficiency, which had never been treated because of societal reasons. "

07/01/2009 - "Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB."

04/01/2000 - "We recently described the human homolog of the little mouse (dwarfism of Sindh), caused by a homozygous nonsense mutation in the GHRH receptor gene in a Pakistani kindred. "

01/31/2000 - "Isolated growth hormone deficiency (IGHD) IB is an autosomal recessive disorder characterized by a good response to exogenous growth hormone (GH) treatment without development of anti-GH antibodies. "

07/01/2009 - "After confirming the expression of M(1)-M(5) receptor mRNA in human hypothalamus, we analyzed the index cases of 39 families with IGHD-IB for mutations in the genes encoding for the five receptors. "

07/01/2009 - "Mutation analysis of the muscarinic cholinergic receptor genes in isolated growth hormone deficiency type IB."

11/01/2002 - "We have analyzed peripheral genomic DNA of a family with two sibs affected by IGHD IB for mutations in the GHRHR, studied the patients' GH response to different GH secretagogues and to PE, and examined the morphology of their pituitary gland by magnetic resonance imaging (MRI). "

01/31/2000 - "Isolated growth hormone deficiency (IGHD) IB is an autosomal recessive disorder characterized by a good response to exogenous growth hormone (GH) treatment without development of anti-GH antibodies. "

11/01/2002 - "We have analyzed peripheral genomic DNA of a family with two sibs affected by IGHD IB for mutations in the GHRHR, studied the patients' GH response to different GH secretagogues and to PE, and examined the morphology of their pituitary gland by magnetic resonance imaging (MRI). "

10/01/2009 - "Mutations in the GHRH receptor (GHRHR) have been detected in the familial type-IB isolated GH deficiency (IGHD-IB) inherited as an autosomal recessive disorder and characterized by a low but detectable serum GH level and good response to substitutive GH therapy. "