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Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy
-
Andrea Granados
,
Charis Eng
Veröffentlicht/Copyright:
5. November 2012
Abstract
Phosphatase and tensin homologue deleted in chromosome 10 (PTEN) has dual protein and lipid phosphatase activity, and its tumor suppressor activity is dependent on its lipid phosphatase activity, which negatively regulates the phosphatidylinositol 3-kinase/Akt pathway. Mutations in PTEN have been identified in different clinical disorders such as Bannayan-Riley-Ruvalcaba syndrome, Cowden syndrome, Proteus syndrome, Proteus-like syndrome, and autism spectrum disorders with macrocephaly (Hobert). The absence of clear genotype-phenotype correlations between these syndromes appears to represent age-related manifestations of the same condition, which shows variable expressivity. Here, we present two siblings whose phenotypes were extremely variable compared with the original descriptions of the syndromes associated with PTEN germline mutations. Our patients present with a unique constellation of features that have not yet been described in humans with PTEN germline mutations, some of which have not been described in the same individual, like severe hypoglycemia, growth hormone deficiency, Von Willebrand disease, and dyslipidemia.
Keywords: growth hormone deficiency; hypoglycemia; PTEN (phosphatase and tensin homologue deleted in chromosome 10) mutations
Received: 2012-7-11
Accepted: 2012-9-21
Published Online: 2012-11-05
Published in Print: 2013-02-01
©2013 by Walter de Gruyter Berlin Boston
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Schlagwörter für diesen Artikel
growth hormone deficiency;
hypoglycemia;
PTEN (phosphatase and tensin homologue deleted in chromosome 10) mutations
Artikel in diesem Heft
- Masthead
- Masthead
- Review Article
- Clinical and diagnostic characteristics of hyperprolactinemia in childhood and adolescence
- Images in Pediatric Endocrinology
- Early occurrence of cerebral white matter abnormality detected in a neonate with salt-wasting congenital adrenal hyperplasia
- Original Articles
- Pentoxifylline treatment for protecting diabetic retinopaty in children with type 1 diabetes
- Absence of diabetes mellitus type 2 in obese children and adolescents in the north of Spain
- Ceramide mediates inhibition of the Akt/eNOS pathway by high levels of glucose in human vascular endothelial cells
- Short- and middle-term continuous use of cinacalcet in children on peritoneal dialysis
- Congenital hypothyroidism caused by a novel mutation of the dual oxidase 2 (DUOX2) gene
- Arginine-guanidinoacetate-creatine pathway in preterm newborns: creatine biosynthesis in newborns
- The effect of different nutritional states on puberty onset and the expression of hypothalamic Kiss1/kisspepetin
- Celiac disease and dermatitis herpetiformis in Brazilian twins: a long-term follow-up and screening of their relatives
- Glucocorticoid receptor expression in whole blood with preterm infants
- Trends in hospitalizations among children with type 1 diabetes in Spain, 2001–2009
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- Attempted suicide with levothyroxine in an adolescent girl
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- Brothers with germline PTEN mutations and persistent hypoglycemia, macrocephaly, developmental delay, short stature, and coagulopathy
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- Anorexia nervosa in a patient with congenital adrenal hyperplasia
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- Hepatitis in an infant treated with octreotide for congenital hyperinsulinism
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