Contribution of Functionally Assessed GHRHR Mutations to Idiopathic Isolated Growth Hormone Deficiency in a Cohort of 312 Unrelated Patients

被引:0
|
作者
Cohen, Enzo [1 ]
Belkacem, Sabrina [1 ]
Fedala, Soumeya [2 ]
Collot, Nathalie [1 ]
Khallouf, Eliane [3 ]
Dastot, Florence [1 ]
Polak, Michel [4 ]
Duquesnoy, Philippe [1 ]
Brioude, Frederic [5 ]
Rose, Sophie [1 ]
Viot, Geraldine [6 ]
Soleyan, Aude [1 ]
Carel, Jean-Claude [7 ]
Sobrier, Marie-Laure [1 ]
Chanson, Philippe [8 ,9 ,10 ]
Gatelais, Frederique [11 ]
Heinrichs, Claudine [12 ]
Kaffel, Noureddine [13 ]
Coutant, Regis [11 ]
Erdeve, Senay Savas [14 ]
Aycan, Zehra [14 ]
Thalassinos, Caroline [4 ]
Lyonnet, Stanislas [15 ,16 ]
Siklar, Zeynep [17 ]
Berberoglu, Merih [17 ]
Brachet, Cecile [12 ]
Amselem, Serge [1 ]
Legendre, Marie [1 ]
机构
[1] Sorbonne Univ, Hop Trousseau, AP HP, INSERM UMR S933,Dept Genet, Paris, France
[2] CHU Bab El Oued, Hop Lamine Debaghine, Bab El Oued, Algeria
[3] Hotel Dieu France, Endocrinol & Diabetol Pediat, Beirut, Lebanon
[4] Hop Necker Enfants Malad, Serv Endocrinol Pediat, Paris, France
[5] Hop Trousseau, Explorat Fonct Endocriniennes, Paris, France
[6] CHU Paris Ctr, AP HP, Matern Port Royal, Unite Diagnost Antenatal & Med Foetale, Paris, France
[7] Hop Robert Debre, Serv Endocrinol Pediat, Paris, France
[8] Hop Bicetre, Serv Endocrinol & Malad Reprod, Le Kremlin Bicetre, France
[9] Ctr References Malad Rares Hypophyse, Le Kremlin Bicetre, France
[10] Univ Paris Saclay, Univ Paris Sud, Fac Med Paris Sud, UMR S1885, Le Kremlin Bicetre, France
[11] CHU Angers, Dept Endocrinol Diabetol & Nutr, Angers, France
[12] Hop Univ Enfants Reine Fabiola, Serv Endocrinol, Brussels, Belgium
[13] Dar Attabib, Complexe Med Multidisciplinaire, Endocrinol, Sfax, Tunisia
[14] Hlth Sci Univ, Hlth Implementat & Res Ctr, Dr Sami Ulus Obstet & Gynecol, Childrens Hlth & Dis, Ankara, Turkey
[15] Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malad, AP HP, Dept Genet, Paris, France
[16] Paris Descartes Sorbonne Paris Cite Univ, Hop Necker Enfants Malad, AP HP, Inst Imagine, Paris, France
[17] Ankara Univ, Dept Pediat Endocrinol, Sch Med, Ankara, Turkey
来源
HORMONE RESEARCH IN PAEDIATRICS | 2018年 / 90卷
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
FC9.2
引用
收藏
页码:54 / 55
页数:2
相关论文
共 50 条
  • [41] MicroRNAs change and target key regulatory genes involved in longitudinal growth in patients with idiopathic isolated growth hormone deficiency (IGHD) on growth hormone (GH) treatment
    Cirillo, Francesca
    Catellani, Cecilia
    Lazzeroni, Pietro
    Sartori, Chiara
    Ravegnini, Gloria
    Bonvicini, Federico
    Predieri, Barbara
    Amarri, Sergio
    Iughetti, Lorenzo
    Angelini, Sabrina
    Street, Maria Elisabeth
    HORMONE RESEARCH IN PAEDIATRICS, 2019, 91 : 110 - 111
  • [42] Reduced longevity in untreated patients with isolated growth hormone deficiency
    Besson, A
    Salemi, S
    Gallati, S
    Jenal, A
    Horn, R
    Mullis, PS
    Mullis, PE
    JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (08): : 3664 - 3667
  • [43] IMMUNOLOGICAL STUDIES IN PATIENTS WITH ISOLATED GROWTH-HORMONE DEFICIENCY
    GUPTA, S
    FIKRIG, SM
    NOVAL, MS
    CLINICAL AND EXPERIMENTAL IMMUNOLOGY, 1983, 54 (01): : 87 - 90
  • [44] IDIOPATHIC GROWTH-HORMONE DEFICIENCY - MR FINDINGS IN 35 PATIENTS
    ABRAHAMS, JJ
    TREFELNER, E
    BOULWARE, SD
    AMERICAN JOURNAL OF NEURORADIOLOGY, 1991, 12 (01) : 155 - 160
  • [45] SCREENING FOR GROWTH-HORMONE GENE DELETIONS IN PATIENTS WITH ISOLATED GROWTH-HORMONE DEFICIENCY
    KAMIJO, T
    PHILLIPS, JA
    OGAWA, M
    YUAN, LF
    SHI, YF
    BAO, XI
    JOURNAL OF PEDIATRICS, 1991, 118 (02): : 245 - 248
  • [46] Is Adrenocorticotropic Hormone Deficiency Really Rare in Patients with Idiopathic Growth Hormone Deficiency and Normal Thyroid Function Tests?
    Erdeve, Senay Savas
    Ocal, Gonul
    Berberoglu, Merih
    Siklar, Zeynep
    Hacihamdioglu, Bulent
    HORMONE RESEARCH IN PAEDIATRICS, 2011, 75 (03): : 200 - 205
  • [47] GPR101 Mutations are not a Frequent Cause of Congenital Isolated Growth Hormone Deficiency
    Castinetti, F.
    Daly, A. F.
    Stratakis, C. A.
    Caberg, J. -H.
    Castermans, E.
    Trivellin, G.
    Rostomyan, L.
    Saveanu, A.
    Jullien, N.
    Reynaud, R.
    Barlier, A.
    Bours, V.
    Brue, T.
    Beckers, A.
    HORMONE AND METABOLIC RESEARCH, 2016, 48 (06) : 389 - 393
  • [48] A nonsense mutation (E72X) in growth hormone releasing hormone receptor (GHRHR) gene is the major cause of familial isolated growth hormone deficiency in Western region of India:: founder effect suggested by analysis of dinucleotide repeat polymorphism close to GHRHR gene
    Kamijo, T
    Hayashi, Y
    Seo, H
    Yamamoto, M
    Ogawa, M
    Choski, CS
    Sawant, NJ
    Colaco, MP
    Desai, MP
    GROWTH HORMONE & IGF RESEARCH, 2004, 14 (05) : 394 - 401
  • [49] Comparison of final height in monozygotic twins, one with idiopathic and isolated growth hormone deficiency treated with low dose of growth hormone
    Sato, H
    Miyamoto, S
    Noda, H
    Sasaki, N
    HORMONE RESEARCH, 2003, 60 (03) : 152 - 155
  • [50] Near final and final adult height in Egyptian children with isolated idiopathic growth hormone deficiency treated with recombinant growth hormone
    Ghali, Isis M.
    Salah, Nermin
    Hafez, Mona
    Anwar, Ghada M.
    Farid, Tarek
    Elmogy, Fatma
    AbduAllah, Nagwa
    HORMONE RESEARCH, 2009, 72 : 251 - 251