Triple a syndrome in a patient with genetic growth hormone insensitivity: Phenotypic effects of two genetic disorders

Hormone Research in Paediatrics

Volumn 77, Issue 1, 2012, Pages 63-68

  Marín, Silvia ^a   Casano Sancho, Paula ^a,b   Villarreal Pena, Nancy ^a   Sebastiani, Giorgia ^a,b   Pinillos, Sergio ^a   Pérez Duenas, Belén ^a   Hwa, Vivian ^c   Rosenfeld, Ron G ^c   Ibánez, Lourdes ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

Author keywords

Adrenal insufficiency; Cortisol; Growth; Growth hormone insensitivity; Insulin like growth factor I; Triple A syndrome

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE 1; GLUCOCORTICOID; GROWTH HORMONE; GROWTH HORMONE RECEPTOR; HYDROCORTISONE; RECOMBINANT GROWTH HORMONE; RECOMBINANT SOMATOMEDIN C; SOMATOMEDIN BINDING PROTEIN; SOMATOMEDIN C;

AAAS GENE; ADRENAL INSUFFICIENCY; ALLGROVE SYNDROME; ANOREXIA; ASTHENIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CONFERENCE PAPER; CONSANGUINEOUS MARRIAGE; DRUG PROTEIN BINDING; ENZYME INHIBITION; ESOPHAGUS ACHALASIA; GENE; GENE MUTATION; GROWTH HORMONE INSENSITIVITY; GROWTH RATE; HOMOZYGOSITY; HORMONE RESISTANCE; HUMAN; LACRIMATION DISORDER; MALE; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; WEIGHT REDUCTION;

ADRENAL INSUFFICIENCY; CHILD; DNA MUTATIONAL ANALYSIS; ESOPHAGEAL ACHALASIA; HUMANS; LARON SYNDROME; MALE; PEDIGREE;

EID: 84857366754     PISSN: 16632818     EISSN: 16632826     Source Type: Journal    
DOI: 10.1159/000335235     Document Type: Conference Paper

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