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Volumn 79, Issue 1, 2013, Pages 86-92

Pituitary stalk interruption syndrome in 58 Chinese patients: Clinical features and genetic analysis

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; FOLLITROPIN; HYPOPHYSIS HORMONE; LUTEINIZING HORMONE; THYROTROPIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR HESX1; TRANSCRIPTION FACTOR LHX4; TRANSCRIPTION FACTOR OTX2; TRANSCRIPTION FACTOR SOX3; UNCLASSIFIED DRUG;

EID: 84878535545     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/cen.12116     Document Type: Article
Times cited : (29)

References (35)
  • 1
    • 79551569171 scopus 로고    scopus 로고
    • Pituitary stalk interruption syndrome: Diagnostic delay and sensitivity of the auxological criteria of the growth hormone research society
    • Gascoin-Lachambre, G., Brauner, R., Duche, L., et al,. (2011) Pituitary stalk interruption syndrome: diagnostic delay and sensitivity of the auxological criteria of the growth hormone research society. PLoS ONE, 6, e16367.
    • (2011) PLoS ONE , vol.6
    • Gascoin-Lachambre, G.1    Brauner, R.2    Duche, L.3
  • 2
    • 45349099136 scopus 로고    scopus 로고
    • Gonadotrophic status in adolescents with pituitary stalk interruption syndrome
    • Rottembourg, D., Linglart, A., Adamsbaum, C., et al,. (2008) Gonadotrophic status in adolescents with pituitary stalk interruption syndrome. Clinical Endocrinology, 69, 105-111.
    • (2008) Clinical Endocrinology , vol.69 , pp. 105-111
    • Rottembourg, D.1    Linglart, A.2    Adamsbaum, C.3
  • 3
    • 79953218776 scopus 로고    scopus 로고
    • Pituitary stalk interruption syndrome in 83 patients: Novel HESX1 mutation and severe hormonal prognosis in malformative forms
    • Reynaud, R., Albarel, F., Saveanu, A., et al,. (2011) Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms. European Journal of Endocrinology, 164, 457-465.
    • (2011) European Journal of Endocrinology , vol.164 , pp. 457-465
    • Reynaud, R.1    Albarel, F.2    Saveanu, A.3
  • 4
    • 28744458076 scopus 로고    scopus 로고
    • Long-term evolution of endocrine disorders and effect of GH therapy in 35 patients with pituitary stalk interruption syndrome
    • Tauber, M., Chevrel, J., Diene, G., et al,. (2005) Long-term evolution of endocrine disorders and effect of GH therapy in 35 patients with pituitary stalk interruption syndrome. Hormone Research, 64, 266-273.
    • (2005) Hormone Research , vol.64 , pp. 266-273
    • Tauber, M.1    Chevrel, J.2    Diene, G.3
  • 6
    • 0030884577 scopus 로고    scopus 로고
    • Pituitary stalk interruption syndrome: A clinical-biological-genetic assessment of its pathogenesis
    • Pinto, G., Netchine, I., Sobrier, M.L., et al,. (1997) Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis. Journal of Clinical Endocrinology and Metabolism, 82, 3450-3454.
    • (1997) Journal of Clinical Endocrinology and Metabolism , vol.82 , pp. 3450-3454
    • Pinto, G.1    Netchine, I.2    Sobrier, M.L.3
  • 7
    • 34047261274 scopus 로고    scopus 로고
    • Factors and markers of growth hormone secretion and gonadal function in Fanconi anemia
    • Trivin, C., Gluckman, E., Leblanc, T., et al,. (2007) Factors and markers of growth hormone secretion and gonadal function in Fanconi anemia. Growth Hormone & IGF Research: 17, 122-129.
    • (2007) Growth Hormone & IGF Research , vol.17 , pp. 122-129
    • Trivin, C.1    Gluckman, E.2    Leblanc, T.3
  • 8
    • 33644891328 scopus 로고    scopus 로고
    • Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia
    • Simon, D., Hadjiathanasiou, C., Garel, C., et al,. (2006) Phenotypic variability in children with growth hormone deficiency associated with posterior pituitary ectopia. Clinical Endocrinology, 64, 416-422.
    • (2006) Clinical Endocrinology , vol.64 , pp. 416-422
    • Simon, D.1    Hadjiathanasiou, C.2    Garel, C.3
  • 9
    • 33748745395 scopus 로고    scopus 로고
    • Genetic screening of combined pituitary hormone deficiency: Experience in 195 patients
    • Reynaud, R., Gueydan, M., Saveanu, A., et al,. (2006) Genetic screening of combined pituitary hormone deficiency: experience in 195 patients. Journal of Clinical Endocrinology and Metabolism, 91, 3329-3336.
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , pp. 3329-3336
    • Reynaud, R.1    Gueydan, M.2    Saveanu, A.3
  • 10
    • 33646236927 scopus 로고    scopus 로고
    • Congenital adenohypophysis aplasia: Clinical features and analysis of the transcriptional factors for embryonic pituitary development
    • Arrigo, T., Wasniewska, M., De Luca, F., et al,. (2006) Congenital adenohypophysis aplasia: clinical features and analysis of the transcriptional factors for embryonic pituitary development. Journal of Endocrinological Investigation, 29, 208-213.
    • (2006) Journal of Endocrinological Investigation , vol.29 , pp. 208-213
    • Arrigo, T.1    Wasniewska, M.2    De Luca, F.3
  • 11
    • 23244433749 scopus 로고    scopus 로고
    • Growth hormone deficiency and combined pituitary hormone deficiency: Does the genotype matter?
    • Dattani, M.T., (2005) Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter? Clinical Endocrinology, 63, 121-130.
    • (2005) Clinical Endocrinology , vol.63 , pp. 121-130
    • Dattani, M.T.1
  • 12
    • 33845618163 scopus 로고    scopus 로고
    • Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe
    • Melo, M.E., Marui, S., Carvalho, L.R., et al,. (2007) Hormonal, pituitary magnetic resonance, LHX4 and HESX1 evaluation in patients with hypopituitarism and ectopic posterior pituitary lobe. Clinical Endocrinology, 66, 95-102.
    • (2007) Clinical Endocrinology , vol.66 , pp. 95-102
    • Melo, M.E.1    Marui, S.2    Carvalho, L.R.3
  • 13
    • 77953402842 scopus 로고    scopus 로고
    • A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency
    • Ashkenazi-Hoffnung, L., Lebenthal, Y., Wyatt, A.W., et al,. (2010) A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency. Human Genetics, 127, 721-729.
    • (2010) Human Genetics , vol.127 , pp. 721-729
    • Ashkenazi-Hoffnung, L.1    Lebenthal, Y.2    Wyatt, A.W.3
  • 14
    • 20244386714 scopus 로고    scopus 로고
    • Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism
    • Woods, K.S., Cundall, M., Turton, J., et al,. (2005) Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism. American Journal of Human Genetics, 76, 833-849.
    • (2005) American Journal of Human Genetics , vol.76 , pp. 833-849
    • Woods, K.S.1    Cundall, M.2    Turton, J.3
  • 15
    • 51349145597 scopus 로고    scopus 로고
    • High prevalence of pituitary magnetic resonance abnormalities and gene mutations in a cohort of Brazilian children with growth hormone deficiency and response to treatment
    • Rocha, M.G., Marchisotti, F.G., Osorio, M.G., et al,. (2008) High prevalence of pituitary magnetic resonance abnormalities and gene mutations in a cohort of Brazilian children with growth hormone deficiency and response to treatment. Journal of Pediatric Endocrinology and Metabolism, 21, 673-680.
    • (2008) Journal of Pediatric Endocrinology and Metabolism , vol.21 , pp. 673-680
    • Rocha, M.G.1    Marchisotti, F.G.2    Osorio, M.G.3
  • 16
    • 0026519203 scopus 로고
    • Magnetic-resonance-imaging in the diagnosis of growth-hormone deficiency
    • Argyropoulou, M., Perignon, F., Brauner, R., et al,. (1992) Magnetic-resonance-imaging in the diagnosis of growth-hormone deficiency. Journal of Pediatrics, 120, 886-891.
    • (1992) Journal of Pediatrics , vol.120 , pp. 886-891
    • Argyropoulou, M.1    Perignon, F.2    Brauner, R.3
  • 17
    • 77956149752 scopus 로고    scopus 로고
    • Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years
    • Li, H., Ji, C.Y., Zong, X.N., et al,. (2009) Height and weight standardized growth charts for Chinese children and adolescents aged 0 to 18 years. Zhonghua Er Ke Za Zhi. Chinese Journal of Pediatrics, 47, 487-492.
    • (2009) Zhonghua Er Ke Za Zhi. Chinese Journal of Pediatrics , vol.47 , pp. 487-492
    • Li, H.1    Ji, C.Y.2    Zong, X.N.3
  • 18
    • 23244461247 scopus 로고    scopus 로고
    • Normative data of penile length for term Chinese newborns
    • Fok, T., Hon, K., So, H.K., et al,. (2005) Normative data of penile length for term Chinese newborns. Biology of the Neonate, 87, 242-245.
    • (2005) Biology of the Neonate , vol.87 , pp. 242-245
    • Fok, T.1    Hon, K.2    So, H.K.3
  • 19
    • 84875698721 scopus 로고
    • Radiographic atlas of skeletal development of the hand and wrist
    • Greulich, W.W., &, Pyle, S.I., (1959) Radiographic atlas of skeletal development of the hand and wrist. American Journal of Medicine, 238, 393.
    • (1959) American Journal of Medicine , vol.238 , pp. 393
    • Greulich, W.W.1    Pyle, S.I.2
  • 20
    • 69949086114 scopus 로고    scopus 로고
    • Expanding the spectrum of mutations in GH1 and GHRHR: Genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency
    • Alatzoglou, K.S., Turton, J.P., Kelberman, D., et al,. (2009) Expanding the spectrum of mutations in GH1 and GHRHR: genetic screening in a large cohort of patients with congenital isolated growth hormone deficiency. Journal of Clinical Endocrinology and Metabolism, 94, 3191-3199.
    • (2009) Journal of Clinical Endocrinology and Metabolism , vol.94 , pp. 3191-3199
    • Alatzoglou, K.S.1    Turton, J.P.2    Kelberman, D.3
  • 22
    • 0033305759 scopus 로고    scopus 로고
    • Growth hormone deficiency with ectopic neurohypophysis: Anatomical variations and relationship between the visibility of the pituitary stalk asserted by magnetic resonance imaging and anterior pituitary function
    • Chen, S., Leger, J., Garel, C., et al,. (1999) Growth hormone deficiency with ectopic neurohypophysis: anatomical variations and relationship between the visibility of the pituitary stalk asserted by magnetic resonance imaging and anterior pituitary function. Journal of Clinical Endocrinology and Metabolism, 84, 2408-2413.
    • (1999) Journal of Clinical Endocrinology and Metabolism , vol.84 , pp. 2408-2413
    • Chen, S.1    Leger, J.2    Garel, C.3
  • 23
    • 79953733124 scopus 로고    scopus 로고
    • Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: Prevalence, evolution of hormone dysfunction and genetic analysis
    • Fernandez-Rodriguez, E., Quinteiro, C., Barreiro, J., et al,. (2011) Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: prevalence, evolution of hormone dysfunction and genetic analysis. Neuroendocrinology, 93, 181-188.
    • (2011) Neuroendocrinology , vol.93 , pp. 181-188
    • Fernandez-Rodriguez, E.1    Quinteiro, C.2    Barreiro, J.3
  • 24
    • 48249134003 scopus 로고    scopus 로고
    • Factors influencing the growth hormone peak and plasma insulin-like growth factor i in young adults with pituitary stalk interruption syndrome
    • Marcu, M., Trivin, C., Souberbielle, J.C., et al,. (2008) Factors influencing the growth hormone peak and plasma insulin-like growth factor I in young adults with pituitary stalk interruption syndrome. BMC Endocrine Disorders, 8, 7.
    • (2008) BMC Endocrine Disorders , vol.8 , pp. 7
    • Marcu, M.1    Trivin, C.2    Souberbielle, J.C.3
  • 25
    • 17344362762 scopus 로고    scopus 로고
    • Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse
    • Dattani, M.T., Martinez-Barbera, J.P., Thomas, P.Q., et al,. (1998) Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nature Genetics, 19, 125-133.
    • (1998) Nature Genetics , vol.19 , pp. 125-133
    • Dattani, M.T.1    Martinez-Barbera, J.P.2    Thomas, P.Q.3
  • 26
    • 0035692012 scopus 로고    scopus 로고
    • Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders
    • Brickman, J.M., Clements, M., Tyrell, R., et al,. (2001) Molecular effects of novel mutations in Hesx1/HESX1 associated with human pituitary disorders. Development, 128, 5189-5199.
    • (2001) Development , vol.128 , pp. 5189-5199
    • Brickman, J.M.1    Clements, M.2    Tyrell, R.3
  • 27
    • 0034760533 scopus 로고    scopus 로고
    • Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4
    • Machinis, K., Pantel, J., Netchine, I., et al,. (2001) Syndromic short stature in patients with a germline mutation in the LIM homeobox LHX4. American Journal of Human Genetics, 69, 961-968.
    • (2001) American Journal of Human Genetics , vol.69 , pp. 961-968
    • MacHinis, K.1    Pantel, J.2    Netchine, I.3
  • 28
    • 47549088662 scopus 로고    scopus 로고
    • A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism
    • Castinetti, F., Saveanu, A., Reynaud, R., et al,. (2008) A novel dysfunctional LHX4 mutation with high phenotypical variability in patients with hypopituitarism. Journal of Clinical Endocrinology and Metabolism, 93, 2790-2799.
    • (2008) Journal of Clinical Endocrinology and Metabolism , vol.93 , pp. 2790-2799
    • Castinetti, F.1    Saveanu, A.2    Reynaud, R.3
  • 29
    • 53749102565 scopus 로고    scopus 로고
    • OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: Functional studies using the IRBP, HESX1, and POU1F1 promoters
    • Dateki, S., Fukami, M., Sato, N., et al,. (2008) OTX2 mutation in a patient with anophthalmia, short stature, and partial growth hormone deficiency: functional studies using the IRBP, HESX1, and POU1F1 promoters. Journal of Clinical Endocrinology and Metabolism, 93, 3697-3702.
    • (2008) Journal of Clinical Endocrinology and Metabolism , vol.93 , pp. 3697-3702
    • Dateki, S.1    Fukami, M.2    Sato, N.3
  • 30
    • 76149146697 scopus 로고    scopus 로고
    • Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype
    • Dateki, S., Kosaka, K., Hasegawa, K., et al,. (2010) Heterozygous orthodenticle homeobox 2 mutations are associated with variable pituitary phenotype. Journal of Clinical Endocrinology and Metabolism, 95, 756-764.
    • (2010) Journal of Clinical Endocrinology and Metabolism , vol.95 , pp. 756-764
    • Dateki, S.1    Kosaka, K.2    Hasegawa, K.3
  • 31
    • 57349103617 scopus 로고    scopus 로고
    • A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency
    • Diaczok, D., Romero, C., Zunich, J., et al,. (2008) A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. Journal of Clinical Endocrinology and Metabolism, 93, 4351-4359.
    • (2008) Journal of Clinical Endocrinology and Metabolism , vol.93 , pp. 4351-4359
    • Diaczok, D.1    Romero, C.2    Zunich, J.3
  • 32
    • 58149383817 scopus 로고    scopus 로고
    • OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary
    • Tajima, T., Ohtake, A., Hoshino, M., et al,. (2009) OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. Journal of Clinical Endocrinology and Metabolism, 94, 314-319.
    • (2009) Journal of Clinical Endocrinology and Metabolism , vol.94 , pp. 314-319
    • Tajima, T.1    Ohtake, A.2    Hoshino, M.3
  • 33
    • 79953857493 scopus 로고    scopus 로고
    • Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism
    • Alatzoglou, K.S., Kelberman, D., Cowell, C.T., et al,. (2011) Increased transactivation associated with SOX3 polyalanine tract deletion in a patient with hypopituitarism. Journal of Clinical Endocrinology and Metabolism, 96, E685-690.
    • (2011) Journal of Clinical Endocrinology and Metabolism , vol.96
    • Alatzoglou, K.S.1    Kelberman, D.2    Cowell, C.T.3
  • 34
    • 77955391808 scopus 로고    scopus 로고
    • Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: Identification of a single patient with LHX4 deletion
    • Dateki, S., Fukami, M., Uematsu, A., et al,. (2010) Mutation and gene copy number analyses of six pituitary transcription factor genes in 71 patients with combined pituitary hormone deficiency: identification of a single patient with LHX4 deletion. Journal of Clinical Endocrinology and Metabolism, 95, 4043-4047.
    • (2010) Journal of Clinical Endocrinology and Metabolism , vol.95 , pp. 4043-4047
    • Dateki, S.1    Fukami, M.2    Uematsu, A.3
  • 35


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