Literature DB >> 8976667

Defective growth hormone secretion in children with pycnodysostosis and improved linear growth after growth hormone treatment.

A T Soliman1, A Rajab, I AlSalmi, A Darwish, M Asfour.   

Abstract

Short stature is a characteristic feature of pycnodysostosis. We report defective growth hormone secretion in response to provocation and low insulin-like growth factor-I (IGF-I) concentration in five out of six patients with pycnodysostosis. Physiological replacement with growth hormone increased IGF-I concentration and improved linear growth in these children.

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Year:  1996        PMID： 8976667      PMCID： PMC1511688          DOI： 10.1136/adc.75.3.242

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  7 in total

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Journal:  Arch Dis Child       Date:  1963-12       Impact factor: 3.791

2.  THE MALADY OF TOULOUSE-LAUTREC.

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Journal:  JAMA       Date:  1965-03-01       Impact factor: 56.272

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Authors:  Y Sugiura; Y Yamada; J Ko
Journal:  Birth Defects Orig Artic Ser       Date:  1974

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Authors:  E Lykkegaard Nielsen
Journal:  Acta Paediatr Scand       Date:  1974-05

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Journal:  Am J Dis Child       Date:  1968-07

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Authors:  T Kajii; T Homma; T Ohsawa
Journal:  J Pediatr       Date:  1966-07       Impact factor: 4.406

7.  [Pyknodysostosis. Classical and unusual aspects. Apropos of 7 cases].

Authors:  C Bennani-Smirès; N R el Alamy; N Bouchareb
Journal:  J Radiol       Date:  1984-10
  7 in total
  8 in total

1.  High bone mineral density in pycnodysostotic patients with a novel mutation in the propeptide of cathepsin K.

Authors:  A F Schilling; C Mülhausen; W Lehmann; R Santer; T Schinke; J M Rueger; M Amling
Journal:  Osteoporos Int       Date:  2007-01-06       Impact factor: 4.507

Review 2.  Cathepsin K Inhibitors for Osteoporosis: Biology, Potential Clinical Utility, and Lessons Learned.

Authors:  Matthew T Drake; Bart L Clarke; Merry Jo Oursler; Sundeep Khosla
Journal:  Endocr Rev       Date:  2017-08-01       Impact factor: 19.871

3.  Molecular and clinical analysis in a series of patients with Pyknodysostosis reveals some uncommon phenotypic findings.

Authors:  Margarita Valdes-Flores; Alberto Hidalgo-Bravo; L Casas-Avila; Carmen Chima-Galan; Eric J Hazan-Lasri; Ernesto Pineda-Gomez; Druso Lopez-Estrada; Juan C Zenteno
Journal:  Int J Clin Exp Med       Date:  2014-11-15

4.  A First-Case Report of Pycnodysostosis in an Omani Boy.

Authors:  Musallam Al-Araimi; Aliya Al-Hosni; Ashwaq Al Maimani
Journal:  J Pediatr Genet       Date:  2020-08-04

5.  A child with bone fractures and dysmorphic features: remember of pycnodysostosis and craniosynostosis.

Authors:  Alberto Berenguer; António Pedro Freitas; Gomes Ferreira; José Luis Nunes
Journal:  BMJ Case Rep       Date:  2012-11-21

6.  Pyknodysostosis: visceral manifestations and simian crease.

Authors:  Arvind Rup Singh; Anupam Kaur; Nand Kishore Anand; Jai Rup Singh
Journal:  Indian J Pediatr       Date:  2004-05       Impact factor: 1.967

Review 7.  Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011.

Authors:  Yang Xue; Tao Cai; Songtao Shi; Weiguang Wang; Yanli Zhang; Tianqiu Mao; Xiaohong Duan
Journal:  Orphanet J Rare Dis       Date:  2011-05-10       Impact factor: 4.123

8.  Effect of Growth Hormone treatment on Height Velocity of Children with Pycnodysotosis.

Authors:  Zohreh Karamizadeh; Homa Ilkhanipoor; Fereshte Bagheri
Journal:  Iran J Pediatr       Date:  2014-04       Impact factor: 0.364
  8 in total

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