Literature DB >> 15316966

Costello syndrome with growth hormone deficiency and hypoglycemia: a new report and review of the endocrine associations.

Nerine Gregersen1, Denis Viljoen.   

Abstract

We describe an 18-month-old boy with Costello syndrome (CS) with proven partial growth hormone (GH) deficiency and hypoglycemic episodes. The hypoglycemia is deemed to be due to cortisol deficiency. This report represents the second published case of cortisol deficiency in the CS. A brief review of the endocrine disturbances in the syndrome is provided. We highlight the need for careful endocrinological evaluation of individuals with CS. Copyright 2004 Wiley-Liss, Inc.

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Year:  2004        PMID: 15316966     DOI: 10.1002/ajmg.a.30189

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  8 in total

1.  Costello syndrome: Clinical phenotype, genotype, and management guidelines.

Authors:  Karen W Gripp; Lindsey A Morse; Marni Axelrad; Kathryn C Chatfield; Aaron Chidekel; William Dobyns; Daniel Doyle; Bronwyn Kerr; Angela E Lin; David D Schwartz; Barbara J Sibbles; Dawn Siegel; Suma P Shankar; David A Stevenson; Mihir M Thacker; K Nicole Weaver; Sue M White; Katherine A Rauen
Journal:  Am J Med Genet A       Date:  2019-06-20       Impact factor: 2.802

2.  Prenatal features of Costello syndrome: ultrasonographic findings and atrial tachycardia.

Authors:  Angela E Lin; Barbara O'Brien; Laurie A Demmer; Kristina K Almeda; Cynthia L Blanco; Patrick F Glasow; Charles I Berul; Robert Hamilton; A Micheil Innes; Julie L Lauzon; Katia Sol-Church; Karen W Gripp
Journal:  Prenat Diagn       Date:  2009-07       Impact factor: 3.050

3.  Respiratory system involvement in Costello syndrome.

Authors:  Natalia Gomez-Ospina; Christin Kuo; Amitha Lakshmi Ananth; Angela Myers; Marie-Luise Brennan; David A Stevenson; Jonathan A Bernstein; Louanne Hudgins
Journal:  Am J Med Genet A       Date:  2016-04-22       Impact factor: 2.802

4.  Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.

Authors:  Dogus Vuralli; Can Kosukcu; Ekim Taskiran; Pelin Ozlem Simsek-Kiper; Gulen Eda Utine; Koray Boduroglu; Ayfer Alikasifoglu; Mehmet Alikasifoglu
Journal:  Mol Syndromol       Date:  2020-09-16

Review 5.  Multidisciplinary Management of Costello Syndrome: Current Perspectives.

Authors:  Chiara Leoni; Germana Viscogliosi; Marco Tartaglia; Yoko Aoki; Giuseppe Zampino
Journal:  J Multidiscip Healthc       Date:  2022-06-02

6.  Recombinant growth hormone therapy in a girl with Costello syndrome: a 4-year observation.

Authors:  Ewa Blachowska; Elżbieta Petriczko; Anita Horodnicka-Józwa; Agata Skórka; Magdalena Pelc; Małgorzata Krajewska-Walasek; Mieczysław Walczak
Journal:  Ital J Pediatr       Date:  2016-01-26       Impact factor: 2.638

7.  Costello Syndrome: The Challenge of Hypoglycemia and Failure to Thrive.

Authors:  C Leoni; E Flex
Journal:  EBioMedicine       Date:  2017-12-07       Impact factor: 8.143

8.  Growth and hormone profiling in children with congenital melanocytic naevi.

Authors:  R Waelchli; J Williams; T Cole; M Dattani; P Hindmarsh; H Kennedy; A Martinez; S Khan; R K Semple; A White; N Sebire; E Healy; G Moore; V A Kinsler
Journal:  Br J Dermatol       Date:  2015-11-17       Impact factor: 9.302

  8 in total

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