Volume 21, Issue 3, September 2005

Feature Article

GROWTH AND GROWTH HORMONE IN CHILDREN WITH NEUROFIBROMATOSIS TYPE 1

MARIA KARANTZA, MD¹
MITCHELL GEFFNER, MD^1,2
1Division of Endocrinology, Diabetes, and Metabolism
Childrens Hospital Los Angeles
²Saban Research Institute
Los Angeles, California

Neurofibromatosis type 1 ( NF1), also known as von Recklinghausen disease, is an autosomal dominant, commonly inherited disease that affects one of every 3000 individuals.¹ The gene responsible for this condition has been isolated by positional cloning to chromosomal region 17q11.2. It spans over 350 kb of genomic DNA and encodes neurofibromin, a protein product of 2818 amino acids that is expressed in various tissues.² According to the National Institutes of Health Consensus Development Conference (Bethesda, Maryland, July 13-15, 1987), there are 7 key components of the disease (Table 1), at least 2 of which must be present in order to establish the diagnosis.³

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From the Editor's Desk

Abstracts

Summary Highlights: Endocrine Society, 2005

Caffey Disease is a Type I Collagenopathy

Final Height in SGA Children Treated with GH

GHD in Ectopic Neurohypophysis

Familial Isolated GHD Type II

SIADH: Vasopressin Receptor Gene Mutation

JNK, Insulin/IGF Signaling, and Longevity

Congenital ACTH Deficiency, Hypoglycemia, and TPIT Gene Mutations

Neuropsychological Sequelae and Brain Function in Adults with Childhood-Onset GHD

E-Abstracts (Abstracts Online)

Autoimmune Thyroid Disease in T1DM and Hashitoxicosis

Body Weight Gain and T1DM – Accelerator Hypothesis

c-AMP Response Element Binding Protein & Gene Activation

Cell Replacement for Diabetes

Congenital Hypothyroidism Due to Excessive Iodine Intake

Quality of Life in Turner Syndrome after GH Treatment

Vitamin D Receptor and Adult Height