All individuals with variants in gene GHR

71 entries on 1 page. Showing entries 1 - 71.
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00079732 - PubMed: Fang 2007 {FILE17405847fam.jpg:pedigree} F - Austria white - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency insulin-like growth factor I deficiency; bone age 1.2y delayed; no conspicuous features of Laron syndrome 2 1 Johan den Dunnen
00079741 - PubMed: Godowski 1989 - M yes (United States) Jewish;Iraq - - - - Laron Laron syndrome; LTD; slow physical and mental development, clinical features of GH deficiency (with high GH levels and low IGF-1 levels); no serum GH binding protein detected; no 125I labeled GH binding detected in liver microsomal membranes 2 1 Johan den Dunnen
00079742 - PubMed: Godowski 1989 - F yes United States Jewish;Iraq - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency insulin-like growth factor I deficiency, Laron syndrome; typical features of GH deficiency at the age of 6. After 5 days of GH treatment there was no increase in the plasma IGF-1 level. At the age of 8.10y showed no serum GH binding protein activity 2 1 Johan den Dunnen
00079743 - PubMed: Godowski 1989 - M - United States - - - - - Laron Laron syndrome, Laron-type dwarfism 1 1 Johan den Dunnen
00079744 - PubMed: Amselem 1991 - F yes - - - - - - Laron Laron syndrome 2 1 Johan den Dunnen
00079745 - PubMed: Amselem 1991 - M yes - - - - - - Laron Laron syndrome 2 1 Johan den Dunnen
00079746 - PubMed: Amselem 1991 - - yes - - - - - - Laron Laron syndrome 2 1 Johan den Dunnen
00079770 - PubMed: Fang 2007 father and sister-2 heterozygous for C94S. mother and sister-1 heterozygous for H150Q. F - Austria white - - - - Growth retardation with deafness and mental retardation due to IGF1 deficiency IGF-I level failed to increase after IGF generation test, no response to GH treatment; IGF-I therapy at 6.5y, height increased from -4.9SDS to -3.8SDS; insulin-like growth factor I deficiency; delayed bone age of 2.5y; Mild midfacial hypoplasia, depressed nasal bridge; Moderate frontal bossing, small hands 2 1 Johan den Dunnen
00079775 - PubMed: Goddard 1995 - - - - - - - - - ? - 1 1 Johan den Dunnen
00079776 - PubMed: Kaji 1997 - F no - - - - - - ? GH insensitivity syndrome; prominent forehead, small nose with retracted bridge; severe growth retardation; baseline GH level 21.6-59.4ng/ml, peak plasma GH of 89.5 in respons to Arginine, 79.5 in respons to glucagon, >90 in respons to l-dopa, 377 in respons to GHRH at 4.10y; administration of rhGH for 10 days (0.32U/kg/day) 2 1 Johan den Dunnen
00079777 - PubMed: Pantel 2003 - M no Germany - - - - - Laron Laron syndrome; Pregnancy and delivery without complications; Frontal bossing, midface hypoplasia; Obesity, acromicria; clinical features GH deficiency; first months episodes of hypoglycemia; GHBP activity undetecable, basal GH plasma baseline 42ng/ml, +Arginine, 99ng/ml; IGF1/IGFBP-3 plasma levels low and resistant to 4d rGH administration 2 1 Johan den Dunnen
00079778 - PubMed: Goddard 1995 - M - - - - - - treated with GH, and had marginal growth in respons to therapy, suggesting that he may be partially insensitive to GH because of a dysfunctional GH receptor. ? - 1 1 Johan den Dunnen
00079779 - PubMed: Goddard 1995 patient inherited variant from mother, but was more severely affected suggesting he inherited an as yes undefined variant from his father M no - - - - - - ? - 1 1 Johan den Dunnen
00079780 - PubMed: Goddard 1995 - M no - - - - - not responsive to GH stature, short short stature, idiopathic 2 1 Johan den Dunnen
00079782 - PubMed: Sanchez 1998 The GHBP level of the younger brother was 105pmol/L and the older brother's GHBP level was 222pmol/L. The patient, his mother and younger brother also had a heterozygous polymorphism in exon 6. M - Cuba white, Florida - - - - Laron Laron syndrome; physically normal, above average intelligence; no facial dysmorphism 2 1 Johan den Dunnen
00079783 - PubMed: Wojcik 1998 - M no Spain Hispanic - - - - Laron Laron syndrome; growth hormone insensitivity; Basal plasma GH level of patient: 5-10ng/ml. His GH level was not suppressed by oral glucose administration and was further augmented by insulin induced hypoglycemia and arginine infusion. 2 1 Johan den Dunnen
00079784 - PubMed: Wojcik 1998 - M yes Pakistan - - - - - Laron Laron syndrome; History of hypoglycemia; 30m-small size, stubby appearance, history of hypoglycemia; high random GH levels during sleep, 68ng/ml; stimulation with l-DOPA and Arginine GH levels were 19.8 and 17.5ng/ml; 6y-overnight pooled GH level 16.9ng/ml, IGF-1 0.1U/ml 2 1 Johan den Dunnen
00079785 - PubMed: Wojcik 1998 - F no - white - - - - Laron Laron syndrome; 23m-height 7m, Somatomedin C level 0.48U/ml; 2.8y-unstimulated GH level 42.8ng/ml, Clonidine stimulated GH level 93.8ng/ml, Somatomedin level <0.1U/ml; GH binding assay, plasma GHBP levels 1.2% and 6.1%; (1993) GHBP level 143pmol/L; 18m IGF-I therapy slipped capital femoral epiphysis 2 1 Johan den Dunnen
00079786 - PubMed: Wojcik 1998 - F yes Saudi Arabia - - - - - Laron Laron syndrome; bone age delayed; prominent forehead; Blue sclerae, malar hypoplasia; bone age delayed. She had borderline hypoglycemia(41mg/dl) during fasting. Her baseline GH level of 41ng/ml rose to 130ng/ml upon Clonidine stimulation. The patient had very small hands and feet. 2 1 Johan den Dunnen
00079787 - PubMed: Berg 1993 - F yes Spain Spain - - - - Laron Laron syndrome; The patient's basal GH was 50. Her GHBP level at 18y was 2.4% of normal. 2 1 Johan den Dunnen
00079788 - PubMed: Berg 1993 - M no United States Afro American - - - - Laron Laron syndrome; Basal IGF-I and GHBP activity were undetectable. There was no rise in IGF-I after 4 days of exogenous GH treatment. Random GH level of the patient was 69. 2 1 Johan den Dunnen
00079789 - PubMed: Berg 1993 - M no United States Afro-American - - - - Laron Laron syndrome; Basal IGF-I and GHBP activities were undetectable. There was no rise in IGF-I after 4 days of exogenous GH treatment. Random GH level of the patient was 22.8. 2 1 Johan den Dunnen
00079790 - PubMed: Berg 1993 - F no Spain - - - - - Laron Laron syndrome; The patient's basal GH was 53. Her GHBP level at 21y was 3.4% of normal. 2 1 Johan den Dunnen
00079791 - PubMed: Berg 1993 - F no South Africa - - - - - Laron Laron syndrome; At the age of 5.5y her random GH level was 34. And her GHBP activitity at 5.5y was 5.2% of normal. 2 1 Johan den Dunnen
00079792 - PubMed: Berg 1993 - M yes Brazil - - - - - Laron Laron syndrome; At 13 years the patient's GH level was 18. The IGF-1 level remained unchanged with human GH treatment. GHBP activity was not measured. 2 1 Johan den Dunnen
00079793 - PubMed: Berg 1993 - F yes Ecuador - - - - - Laron Laron syndrome; At the age of 27 months the patient's basal GH level was 160. Her IGFBP-3 activity was 58% of normal and GHBP activity was 30% of normal. rnThey had previously found that she does not carry the splice mutation that is prevalent in Ecuador. 2 1 Johan den Dunnen
00079811 - PubMed: Iida 1997 - M - Japan - - - - - ? prominent forehead, saddle nose; prominent forehead, saddle nose; basal GH 1.0-40.4µg/L; +Arginine peak GH (0.5g/kg,iv) 23.8µg/L; +Clonidine (0.15mg. orally) peak GH 47.4µg/L, +Levodopa (500mg, orally) peak GH 31.7µg/L; GH insensitivity 1 1 Johan den Dunnen
00079812 - PubMed: Iida 1997 - F - Japan - - - - - ? prominent forehead, saddle nose; basal GH 0.5-38.3µg/L; +Arginine (0.5g/kg,iv) peak GH 36.1µg/L; +Clonidine (0.15mg. orally) peak GH 48.1µg/L, + Levodopa (500mg, orally) peak GH 23.4µg/L; GH insensitivity 1 1 Johan den Dunnen
00079813 - PubMed: Iida 1997 mother of 2 Japanese siblings (p1 and p2). F - Japan - - - - - ? growth hormone insensitivity; Prominent forehead, saddle nose 1 1 Johan den Dunnen
00079814 - PubMed: Walker 1998 - F no Viet Nam - - - - - Laron Laron syndrome; Tanner stage 2(10.8y) and 4(13.8y) breast development; 15.2y-developing pubic hair, but not begun menstruating; 14.2y-pelvic ultrasound test prepubertal uterus of 3.5cm in length, ovarian volumes of 2.7 and 3.6ml 2 1 Johan den Dunnen
00079815 - PubMed: Sobrier 1997 - - - India - - - - - Laron Laron syndrome 2 1 Johan den Dunnen
00079816 - PubMed: Sobrier 1997 - - no Germany - - - - - Laron Laron syndrome 2 1 Johan den Dunnen
00079817 - PubMed: Sobrier 1997 - - no Turkey - - - - - Laron Laron syndrome 2 1 Johan den Dunnen
00079818 - PubMed: Sobrier 1997 - - no Slovenia - - - - - Laron Laron syndrome 2 1 Johan den Dunnen
00079819 - PubMed: Sobrier 1997 - - yes Turkey - - - - - Laron Laron syndrome 2 1 Johan den Dunnen
00079820 - PubMed: Sobrier 1997 - - yes Turkey - - - - - Laron Laron syndrome 2 1 Johan den Dunnen
00079821 - PubMed: Sobrier 1997 - - - Spain - - - - - Laron Laron syndrome 2 1 Johan den Dunnen
00079822 - PubMed: Sobrier 1997 - - - Algeria - - - - - Laron Laron syndrome 2 1 Johan den Dunnen
00079823 - PubMed: Sobrier 1997 - - yes Turkey - - - - - Laron Laron syndrome 2 1 Johan den Dunnen
00079824 - PubMed: Sakurai 2002 - M - Japan - - - - - stature, short short stature; Growth Hormone Insensitivity; 9y-serum IGF-1 >30µg/l, serum GH level increased to 10.8µg/l by Arginine, to 9.1µg/L by Clonidine, to 2.0µg/l by Insulin.; basal IGFBP3 level 2.19µg/L, raised to 2.50µg/L after rgGH injections (6 days) 4 1 Johan den Dunnen
00079825 - PubMed: Enberg 2000 - M no Sweden - - - - - Laron Laron syndrome; moderate obesity; frontal bossing, low nasal bridge; Present, small genitalia; During a Argnine tolerance test GH levels increased from 54µg/L to 94µg/L. 12h sampling revealed a mean level GH of 37µg/L. GH was administered for 10 days(0.1µg/kgBW) and after that, another 3 months, but with a dose of 0.3µg/kgBW. At 5y IGF-I treatment started increasing doses from 40 to 120µg/kgBW twice daily, fir 4 years. Increase of height from -6SDS to -3.8SDS 2 1 Johan den Dunnen
00079826 - PubMed: Enberg 2000 - M no Sweden - - - - - Laron Laron syndrome; Phenotype identical to case 1; frontal bossing, small midface; small genitalia, moderate obesity; Limited work up was done for this patient, because his phenotype was almost identical as his brother, case 1. GH levels were between 2.1-30µg/L during sampling for 6h. At the start of IGF-I treatment, there was one clinical episode of Hypoglycaemia. The patient was tonsillectomised after 3y of treatment 2 1 Johan den Dunnen
00079827 - PubMed: Bonioli 2005 - F - Italy - - - - - stature, short short stature, idiopathic; Growth Hormone Insensitivity Syndrome; bone age was 13y at chronological age of 14.3y 1 1 Johan den Dunnen
00079828 - PubMed: Bonioli 2005 - - - Italy - - - - - stature, short short stature, idiopathic 1 1 Johan den Dunnen
00079829 - PubMed: Savage 2006 - - - - - - - - - Laron Laron syndrome; growth hormone insensitivity 1 1 Johan den Dunnen
00079830 - PubMed: Savage 2006 - - - Italy - - - - - Laron Laron syndrome 1 1 Johan den Dunnen
00079831 - PubMed: Savage 2006 - - - Ecuador - - - - - Laron Laron syndrome; growth hormone insensitivity 1 1 Johan den Dunnen
00079832 - PubMed: Savage 2006 - - - - - - - - - Laron Laron syndrome; growth hormone insensitivity 1 1 Johan den Dunnen
00079833 - PubMed: Savage 2006 - - - China - - - - - Laron Laron syndrome; growth hormone insensitivity 1 1 Johan den Dunnen
00079834 - PubMed: Savage 2006 - - - - - - - - - Laron Laron syndrome; growth hormone insensitivity 1 1 Johan den Dunnen
00079835 - PubMed: Savage 2006 - - - Iran - - - - - Laron Laron syndrome; growth hormone insensitivity 1 1 Johan den Dunnen
00079836 - PubMed: Savage 2006 - - - - Mediterranean - - - - Laron Laron syndrome 1 1 Johan den Dunnen
00079837 - PubMed: Savage 2006 - - - Taiwan - - - - - Laron Laron syndrome; growth hormone insensitivity 1 1 Johan den Dunnen
00079838 - PubMed: Savage 2006 - - - - white - - - - Laron Laron syndrome; growth hormone insensitivity 1 1 Johan den Dunnen
00079839 - PubMed: Savage 2006 - - - Korea - - - - - Laron Laron syndrome; growth hormone insensitivity 1 1 Johan den Dunnen
00079840 - PubMed: Savage 2006 - - - - - - - - - Laron Laron syndrome; growth hormone insensitivity 1 1 Johan den Dunnen
00079841 - PubMed: Savage 2006 - - - - - - - - - Laron Laron syndrome; growth hormone insensitivity 1 1 Johan den Dunnen
00079842 - PubMed: Savage 2006 - - - - - - - - - Laron Laron syndrome; growth hormone insensitivity 1 1 Johan den Dunnen
00079843 - PubMed: Savage 2006 - - - - - - - - - Laron Laron syndrome; growth hormone insensitivity 1 1 Johan den Dunnen
00079863 - PubMed: Bonioli 2005 - - - Italy - - - - - Healthy/Control - 1 39 Johan den Dunnen
00079864 - PubMed: Bonioli 2005 - - - Italy - - - - - stature, short short stature, idiopathic 1 34 Johan den Dunnen
00079865 - PubMed: Sanchez 1998 - - - Cuba white - - - - Healthy/Control - 1 1 Johan den Dunnen
00079868 - PubMed: Diniz 2008 - M - Brazil - - - - - Laron Laron syndrome 2 1 Johan den Dunnen
00080753 - - - F no (Brazil) - - - - - ISS - 1 1 Robert Pogue
00293876 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 16 Mohammed Faruq
00293877 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 128 Mohammed Faruq
00293878 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00293879 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 7 Mohammed Faruq
00293880 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 43 Mohammed Faruq
00295646 - - - F - - - - - - - ? Short stature (HP:0004322) 1 1 Andreas Laner
00305036 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 2 Mohammed Faruq
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