Triple A Syndrome in a Patient with Genetic Growth Hormone Insensitivity: Phenotypic Effects of Two Genetic Disorders

Background: Primary growth hormone insensitivity (GHI) and triple A syndrome are rare autosomal recessive disorders. Case Report: The patient, a 12-year-old boy from consanguineous parents, was referred for short stature at the age of 7 years (height: -5.4 SD score). He had low serum insulin-like gr...

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Veröffentlicht in:	Hormone research in paediatrics 2012-01, Vol.77 (1), p.63-68
Hauptverfasser:	Marín, Silvia, Casano-Sancho, Paula, Villarreal-Peña, Nancy, Sebastiani, Giorgia, Pinillos, Sergio, Pérez-Dueñas, Belén, Hwa, Vivian, Rosenfeld, Ron G., Ibáñez, Lourdes
Format:	Artikel
Sprache:	eng
Schlagworte:	Adrenal Insufficiency - complications Adrenal Insufficiency - genetics Child DNA Mutational Analysis Esophageal Achalasia - complications Esophageal Achalasia - genetics Humans Laron Syndrome - complications Laron Syndrome - genetics Male Novel Insights from Clinical Practice Pedigree
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