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Abbreviation : IGHD
Long Form : isolated growth hormone deficiency
No. Year Title Co-occurring Abbreviation
2019 Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary. CPHD, GHD
2019 Isolated Growth Hormone Deficiency Type II due to a novel GH1 mutation: A Case Report MR, rhGH
2019 Psychometric properties of the quality of life in short statured youth (QoLISSY) questionnaire within the course of growth hormone treatment. hGH, HRQoL, ISS, QoLISSY, SGA
2018 A Novel Variant c.97C>T of the Growth Hormone Releasing Hormone Receptor Gene Causes Isolated Growth Hormone Deficiency Type Ib GH, GHD, GHRH-R, IGF-1
2018 Assessing the adrenal axis by the glucagon stimulation test in children with idiopathic growth hormone deficiency. GST
2018 Choroidal thickness measurements in children with isolated growth hormone deficiency. CT, EDI-OCT, GH, SFCT
2018 Clinical case seminar: Familial intracranial germinoma. HP, ICG
2018 Effects of Therapy With Semi-occluded Vocal Tract and Choir Training on Voice in Adult Individuals With Congenital, Isolated, Untreated Growth Hormone Deficiency. SOVTT
2018 Growth hormone therapy in children born small for gestational age: results from the ANSWER program. ANSWER, GH, SGA
10  2018 Mutations in the U11/U12-65K protein associated with isolated growth hormone deficiency lead to structural destabilization and impaired binding of U12 snRNA. C-RRM, NMD
11  2018 Pituitary height at magnetic resonance imaging in pediatric isolated growth hormone deficiency. MRI
12  2017 A surprising treatment response in a patient with rare isolated growth hormone deficiency, type IB. GH, SNP
13  2017 Clinical and laboratory parameters predicting a requirement for the reevaluation of growth hormone status during growth hormone treatment: Retesting early in the course of GH treatment. GH, GHD, MPHD
14  2017 Effect of growth hormone treatment on children with idiopathic short stature and idiopathic growth hormone deficiency. BA, CA, GH, HtSDS, IGF-1, IGFBP-3, ISS, MPH, PAH
15  2017 Genetic analysis of IRF6, a gene involved in craniofacial midline formation, in relation to pituitary and facial morphology of patients with idiopathic growth hormone deficiency. MLPA
16  2017 Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing. ---
17  2017 Pathogenic and likely pathogenic genetic alterations and polymorphisms in growth hormone gene (GH1) and growth hormone releasing hormone receptor gene (GHRHR) in a cohort of isolated growth hormone deficient (IGHD) children in Sri Lanka. GHRH-R, PCR, SNVs
18  2017 Rare Frequency of Mutations in Pituitary Transcription Factor Genes in Combined Pituitary Hormone or Isolated Growth Hormone Deficiencies in Korea. CPHD, GH
19  2017 Using a spontaneous profile rather than stimulation test makes the KIGS idiopathic growth hormone deficiency model more accessible for clinicians. GH, SDS
20  2016 A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD). AV
21  2016 A novel mutation in HESX1 causes combined pituitary hormone deficiency without septo optic dysplasia phenotypes. CPHD, SOD
22  2016 Development of additional pituitary hormone deficiencies in pediatric patients originally diagnosed with isolated growth hormone deficiency due to organic causes. MPHD
23  2016 Genetic causes of isolated and combined pituitary hormone deficiency. CPHD, SOD
24  2016 HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype. APH, CPHD, EPP, NPP, PA, SOD
25  2016 Identification of novel GHRHR and GH1 mutations in patients with isolated growth hormone deficiency. CPHD, GH, GHD, MRI, SDS
26  2016 Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency. CPHD, ExAC, GH, GHD, SDS
27  2016 Partial Loss of Function of the GHRH Receptor Leads to Mild Growth Hormone Deficiency. ---
28  2016 Pituitary volume in children with growth hormone deficiency, idiopathic short stature and controls. ISS, MRI, PV
29  2016 The impact of the d3-growth hormone receptor (d3-GHR) polymorphism on the therapeutic effect of growth hormone replacement in children with idiopathic growth hormone deficiency in Poland. d3-GHR, GH, GHR
30  2016 Voice Formants in Individuals With Congenital, Isolated, Lifetime Growth Hormone Deficiency. ---
31  2015 Attaining genetic height potential: Analysis of height outcomes from the ANSWER Program in children treated with growth hormone over 5 years. BA, BMI, GH, HSDS, HSDS, IGF-I, ISS, MPHD, SGA
32  2015 Autosomal Dominant Growth Hormone Deficiency (Type II). ---
33  2015 Increased height standard deviation scores in response to growth hormone therapy to near-adult height in older children with delayed skeletal maturation: results from the ANSWER Program. ATS, GHD, GHT, HSDS, HSDS, HV, ISS, MPHD, NAH, TS
34  2015 Molecular screening of a large cohort of Moroccan patients with congenital hypopituitarism. CPHD
35  2015 Pituitary gland size is a useful marker in diagnosing isolated growth hormone deficiency in short children. ---
36  2014 A novel gross indel in the growth hormone releasing hormone receptor gene of Indian IGHD patients. GHRH-R, UTRs
37  2014 Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort. ---
38  2014 Familial isolated growth hormone deficiency due to a novel homozygous missense mutation in the growth hormone releasing hormone receptor gene: clinical presentation with hypoglycemia. GHRH-R
39  2014 Novel growth hormone-releasing hormone receptor gene mutations in Turkish children with isolated growth hormone deficiency. GHRH-R
40  2014 Reference curve for the first-year growth response to growth hormone treatment in prepubertal children with idiopathic growth hormone deficiency: validation of the KIGS first-year growth response curve using the Belgian Register for the Study of Growth and Puberty Problems. GH, HV
41  2014 Stimulant use and its impact on growth in children receiving growth hormone therapy: an analysis of the KIGS International Growth Database. ADHD, ISS, rhGH
42  2014 The prevalence of isolated growth hormone deficiency among children of short stature in Jordan and its relationship with consanguinity. CM
43  2013 Molecular genetic studies in isolated growth hormone deficiency (IGHD). BA, GHD, HP, NFIGHD
44  2013 Splice site mutations in GH1 detected in previously (Genetically) undiagnosed families with congenital isolated growth hormone deficiency type II. GH
45  2012 Association of the (CA)n repeat polymorphism of insulin-like growth factor-I and -202 A/C IGF-binding protein-3 promoter polymorphism with adult height in patients with severe growth hormone deficiency. IGF-I, IGFBP-3, rhGH, SDS
46  2012 Comparison of response to 2-years' growth hormone treatment in children with isolated growth hormone deficiency, born small for gestational age, idiopathic short stature, or multiple pituitary hormone deficiency: combined results from two large observational studies. GH, IGF-I, ISS, MPHD, NordiNet IOS, SDS, SGA
47  2012 Genetic characterization of growth hormone 1 gene in patients with isolated growth hormone deficiency. CPHD, GH, GH1, GHD, GHRHR
48  2012 Growth hormone (GH-1) gene deletions in children with isolated growth hormone deficiency (IGHD). ---
49  2012 Isolated growth hormone deficiency in two siblings because of paternal mosaicism for a mutation in the GH1 gene. ---
50  2012 Phenotype-genotype correlations in congenital isolated growth hormone deficiency (IGHD). GHRHR
51  2012 Type IA isolated growth hormone deficiency (IGHD) consistent with compound heterozygous deletions of 6.7 and 7.6 Kb at the GH1 gene locus. ---
52  2012 Voice quality in short stature with and without GH deficiency. CO, CP, SS, V-RQOL
53  2011 From GHRH to IGF-1 and downstream: clinical phenotypes and biological mechanisms. IGF1R
54  2011 Idiopathic growth hormone deficiency in the morphologically normal pituitary gland is associated with perfusion delay. MR, TTP
55  2011 Measurement of amino-terminal propeptide of C-type natriuretic peptide in patients with idiopathic short stature or isolated growth hormone deficiency. GV, HtSDS, IGF-I, ISS, rhGH
56  2011 Periodontal disease in adults with untreated congenital growth hormone deficiency: a case-control study. PAL
57  2010 A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. ---
58  2010 Clinico-radiological correlation in childhood hypopituitarism. GH
59  2010 Genetic polymorphisms in the locus control region and promoter of GH1 are related to serum IGF-I levels and height in patients with isolated growth hormone deficiency and healthy controls. GH, LCR, SNPs
60  2010 Two siblings with isolated GH deficiency due to loss-of-function mutation in the GHRHR gene: successful treatment with growth hormone despite late admission and severe growth retardation. GHRH-R
61  2009 Antipituitary antibodies in dutch patients with idiopathic hypopituitarism. APA, MPHD
62  2009 Characterization of GH-1 mutations in children with isolated growth hormone deficiency in the Turkish population. GH, GHD
63  2009 Congenital hypopituitarism: clinico-radiological correlation. EPPBS, IIH, LSCS, MPHD
64  2009 Diseases associated with growth hormone-releasing hormone receptor (GHRHR) mutations. GH, GHRH-R, GHRHR
65  2009 Extended haplotypes in the growth hormone releasing hormone receptor gene (GHRHR) are associated with normal variation in height. GHRH-R
66  2009 Laryngeal and vocal evaluation in untreated growth hormone deficient adults. LPR, MPT
67  2008 Associations with multiple pituitary hormone deficiency in patients with an ectopic posterior pituitary gland. EPP, MPHD, MRI, NICU, SA
68  2008 Highly conserved non-coding sequences and the 18q critical region for short stature: a common mechanism of disease? HCNE, MPHD
69  2008 Traumatic brain injury is a rarely reported cause of growth hormone deficiency. GHD, TBI
70  2008 Unusual phenotypic features in a patient with a novel splice mutation in the GHRHR gene. GHRH-R, MRI
71  2007 Isolated growth hormone deficiency. GHRH-R
72  2006 A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency. ---
73  2006 Impact of del32-71-GH (exon 3 skipped GH) on intracellular GH distribution, secretion and cell viability: a quantitative confocal microscopy analysis. WT
74  2005 Isolated growth hormone (GH) deficiency in adult patients: baseline clinical characteristics and responses to GH replacement in comparison with hypopituitary patients. A sub-analysis of the KIMS database. AO, CO, GH, MPHD
75  2005 Mutations within the transcription factor PROP1 are rare in a cohort of patients with sporadic combined pituitary hormone deficiency (CPHD). CPHD, SSCP
76  2005 Naturally-occurring missense mutations in the human growth hormone-releasing hormone receptor alter ligand binding. GH
77  2004 Novel insights into the aetiology and pathogenesis of hypopituitarism. CPHD, GHD
78  2004 Phenotypic analysis and growth response to different growth hormone treatment schedules in two siblings with an inactivating mutation in the growth hormone-releasing hormone receptor gene. GHRH-R, GnRH, hGH
79  2004 [Growth or somatotrophic hormone: new perspectives in isolated GH deficiency after description of the mutation in the GHRH receptor gene in individuals of Itabaianinha County, Brazil]. ---
80  2003 Isolated growth hormone deficiency in Chilean patients: clinical and molecular analysis. GHRH
81  2003 Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature. GH1
82  2003 Quality of life of growth hormone (GH) deficient young adults during discontinuation and restart of GH therapy. CO-GHD, GH, GHD, IGF-I, MPHD, QOL
83  2002 Isolated growth hormone deficiency and the GH-1 gene: update 2002. ---
84  2001 Diagnostic value of pituitary MRI in differentiation of children with normal growth hormone secretion, isolated growth hormone deficiency and multiple pituitary hormone deficiency. GHD, MPHD
85  2001 Growth hormone replacement therapy in children with leukemia in remission. GH, NCGS, rhGH
86  2000 Comparison of the growth-promoting effects of insulin-like growth factor I and growth hormone in the early years of life. hGH, IGF, LS
87  2000 Growth hormone therapy in childhood-onset growth hormone deficiency: adult anthropometric and psychological outcomes. GHD, HtSDS, MPHD, pGH, QOL, rGH
88  2000 Pituitary gene mutations and the growth hormone pathway. CPHD, IGF1
89  2000 Prevalence of GH-1 gene deletion in patients with isolated growth hormone deficiency in Japan. GH Gene Study Group. ---
90  2000 Retesting of patients with isolated growth hormone deficiency (IGHD) using provocative tests and reevaluation of them after termination of therapy. ---
91  2000 Short stature in carriers of recessive mutation causing familial isolated growth hormone deficiency. GH
92  2000 [A magnetic resonance study of 39 children with different causes of short stature]. MPHD, MR
93  1999 A novel mutation at the donor splice site of intron 3 of the GH-I gene in a patient with isolated growth hormone deficiency. ---
94  1999 Final height in idiopathic growth hormone deficiency: the KIGS experience. KIGS International Board. GH
95  1999 Hereditary isolated growth hormone deficiency caused by GH1 gene mutations in Japanese patients. GH
96  1998 De novo mutations of the growth hormone gene: an important cause of congenital isolated growth hormone deficiency? ---
97  1998 Effect of long-term recombinant growth hormone therapy in children--the National Cooperative Growth Study, USA, 1985-1994. ISS, NCGS, OGHD, rhGH, TS
98  1998 Magnetic resonance imaging (MRI) findings in isolated growth hormone deficiency. EPP, MR, MRI
99  1998 Prevalence of human GH-1 gene alterations in patients with isolated growth hormone deficiency. ---
100  1998 The results of long-term growth hormone replacement therapy in Turkish children with growth hormone deficiency. CA, GH, MPHD, SDS