Affiliation: Klinikum rechts der Isar
- GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser MutationWalter Bonfig
Division of Pediatric Endocrinology, Department of Pediatrics, Technische Universität München Kölner Platz 1, 80804 Munich, Germany
ISRN Pediatr 2011:676549. 2011..Genetic testing revealed a novel heterozygous T → C exchange in exon 8 of the GCK gene which resulted in a phenylalanine(330) TTC → serine (TCC)/p.Phe330Ser/F330S substitution...
- Metabolic safety of growth hormone in type 1 diabetes and idiopathic growth hormone deficiencyWalter Bonfig
Division of Pediatric Endocrinology, Department of Pediatrics, Technical University Munchen, Munich, Germany Electronic address
J Pediatr 163:1095-8.e4. 2013..To evaluate metabolic consequences of growth hormone (GH) treatment in children with type 1 diabetes...
- Avoiding harmful procedures in patients with elevated α-fetoprotein concentrations: hereditary persistence of α-fetoprotein is an important and benign differential diagnosis!Walter Bonfig
Department of Pediatrics, Technische Universitat Munchen, Munchen, Germany
J Pediatr Hematol Oncol 34:e301-3. 2012..Hereditary persistence of α-fetoprotein (AFP) is a rare but benign condition...
- Overestimation of final height prediction in patients with classical congenital adrenal hyperplasia using the Bayley and Pinneau methodWalter Bonfig
Division of Pediatric Endocrinology, Department of Pediatrics, Technische Universitat Munchen, Parzivalstr 16, 0 80804 Munich, Germany
J Pediatr Endocrinol Metab 25:645-9. 2012..A typical growth pattern with decreased pubertal growth spurt has been identified in patients with classical congenital adrenal hyperplasia (CAH)...
- Growth in children and adolescents with type 1 diabetesWalter Bonfig
Department of Pediatrics, Technical University Munich, Munich, Germany
J Pediatr 160:900-3.e2. 2012..To investigate the effect of type 1 diabetes on growth and adult height...
- A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literatureWalter Bonfig
Kinderklinik und Kinderpoliklinik Schwabing Department of Pediatric Endocrinology, Technische Universitat Munchen, Kolner Platz 1, 80804, Munchen, Germany
Eur J Pediatr 170:1017-21. 2011..All patients with LHX3 defects should undergo longitudinal screening for ACTH deficiency, since corticotrope function may decline over time. All patients should have auditory testing to allow for regular speech development...
- Growth pattern of untreated boys with simple virilizing congenital adrenal hyperplasia indicates relative androgen insensitivity during the first six months of lifeW Bonfig
Division of Pediatric Endocrinology, Department of Pediatrics, Technische Universitat Munchen, Munchen, Germany
Horm Res Paediatr 75:264-8. 2011..Elevated adrenal androgens lead to accelerated growth and bone maturation. Traditional treatment of CAH consists of the suppression of ACTH through glucocorticoid replacement, in an attempt to reduce excessive androgen production...
- Growth patterns in the first three years of life in children with classical congenital adrenal hyperplasia diagnosed by newborn screening and treated with low doses of hydrocortisoneW Bonfig
Pediatric Endocrinology, Dr von Haunersches Kinderspital, Ludwig Maximilians Universitat Munchen, Munich, Germany
Horm Res Paediatr 75:32-7. 2011..Linear growth is the best clinical parameter for monitoring metabolic control in classical congenital adrenal hyperplasia (CAH)...
- Impaired short-term blood pressure regulation and autonomic dysbalance in children with type 1 diabetes mellitusR Dalla Pozza
Department of Pediatric Cardiology, Ludwig Maximilians University, Munich, Germany
Diabetologia 50:2417-23. 2007....
- Pubertal height gain in Ullrich-Turner syndromeS Bechtold
University Children s Hospital, Division of Pediatric Endocrinology, Munich, Germany
J Pediatr Endocrinol Metab 19:987-93. 2006..Therefore, early treatment with GH for short stature in UTS should be attempted so that an age adequate initiation of puberty will be feasible...
- Seizures, psychosis and coma: severe course of hashimoto encephalopathy in a six-year-old girlF Hoffmann
University Children s Hospital, Ludwig Maximilians University, Munich, Germany
Neuropediatrics 38:197-9. 2007..We report on the youngest patient described up to now presenting with progressive epilepsy resistant to anticonvulsive treatment and unclear encephalopathy related to Hashimoto thyroiditis...