Literature DB >> 9833070

A case of Costello syndrome with endocrine features.

I Yetkin1, G Ayvaz, M Arslan, M Yilmaz, N Cakir.   

Abstract

The case of a 21-year-old woman with findings consistent with Costello syndrome (CS) is reported. Most previously reported cases of CS were in young children. In addition to the classic features, the patient had endocrine disturbances including secondary amenorrhea, goiter, and adrenal insufficiency. This last abnormality may be the cause of the hypoglycemic episodes seen in CS. Osteoporosis and anemia were additional features. This case provides new information on the endocrine features and prognosis of CS.

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Year:  1998        PMID: 9833070

Source DB:  PubMed          Journal:  Ann Genet        ISSN: 0003-3995


  3 in total

1.  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

2.  CHARGE syndrome presenting with persistent hypoglycemia: case report and overview of the main genetic syndromes associated with neonatal hypoglycemia.

Authors:  Alessandra Consales; Beatrice Letizia Crippa; Lorenzo Colombo; Roberta Villa; Francesca Menni; Claudia Giavoli; Fabio Mosca; Maria Francesca Bedeschi
Journal:  Ital J Pediatr       Date:  2022-08-20       Impact factor: 3.288

3.  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

  3 in total

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