Evaluation of Growth and Hormonal Status in Patients Referred to the International Fanconi Anemia Registry

1) To determine the extent of short stature in patients with Fanconi anemia (FA); 2) to determine the extent and nature of endocrinopathy in FA; 3) to assess the impact on height of any endocrinopathies in these patients; and 4) to study the correlation, if any, between height, endocrinopathy, and F...

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Published in:Pediatrics (Evanston) 2001-04, Vol.107 (4), p.744-754
Main Authors: Wajnrajch, Michael P, Gertner, Joseph M, Huma, Zilla, Popovic, Jadranka, Lin, Karen, Verlander, Peter C, Batish, Sat Dev, Giampietro, Phillip F, Davis, Jessica G, New, Maria I, Auerbach, Arleen D
Format: Article
Language:English
Subjects:
Adolescent
Adult
Anemia
Anemias. Hemoglobinopathies
Anthropometry - methods
Biological and medical sciences
Body Height - genetics
Body Height - physiology
Causes of
Child
Child, Preschool
Clonidine
Comparative studies
Diabetes
Diabetes Mellitus - diagnosis
Diabetes Mellitus - epidemiology
Diseases of red blood cells
Dwarfism, Pituitary - blood
Dwarfism, Pituitary - diagnosis
Dwarfism, Pituitary - epidemiology
Endocrine system
Fanconi Anemia - blood
Fanconi Anemia - diagnosis
Fanconi Anemia - genetics
Fanconi's anemia
Female
Genetic Complementation Test - statistics & numerical data
Glucose Tolerance Test
Health aspects
Hematologic and hematopoietic diseases
Human Growth Hormone - blood
Humans
Hyperinsulinism - diagnosis
Hyperinsulinism - epidemiology
Hypothyroidism - blood
Hypothyroidism - diagnosis
Hypothyroidism - epidemiology
Infant
Insulin Resistance - genetics
Male
Medical research
Medical sciences
Mutation
Pediatrics
Physical growth
Prospective Studies
Short stature
Stature, Short
Thyroid Function Tests
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Summary:1) To determine the extent of short stature in patients with Fanconi anemia (FA); 2) to determine the extent and nature of endocrinopathy in FA; 3) to assess the impact on height of any endocrinopathies in these patients; and 4) to study the correlation, if any, between height, endocrinopathy, and FA complementation group. Fifty-four patients with FA, 30 males and 24 females from 47 unrelated families, were prospectively evaluated in a Pediatric Clinical Research Center. The patients ranged in age from 0.1-31.9 years, with the mean age at assessment 8.6 years. Endocrine abnormalities were found in 44 of the 54 FA patients tested (81%), including short stature, growth hormone (GH) insufficiency, hypothyroidism, glucose intolerance, hyperinsulinism, and/or overt diabetes mellitus. Twenty-one of 48 (44%) participants had a subnormal response to GH stimulation; 19 of 53 (36%) had overt or compensated hypothyroidism, while 8 of 40 participants had reduced thyroid-hormone binding. Two patients were diabetic at the time of study; impaired glucose tolerance was found in 8 of 40 patients (25%), but most surprisingly, hyperinsulinemia was present in 28 of 39 (72%) participants tested. Significantly, spontaneous overnight GH secretion was abnormal in all patients tested (n = 13). In addition, participants demonstrated a tendency toward primary hypothyroidism with serum tetraiodothyronine levels at the lower range of normal, while also having thyrotropin (thyroid-stimulating hormone) levels at the high end of normal. Sixteen patients were assigned to FA complementation group A, (FA-A), 12 to FA-C, and 5 to FA-G; 10 of the 12 participants in FA-C were homozygous for a mutation in the intron-4 donor splice site of the FANCC gene. Patients in groups FA-A and FA-G were relatively taller than the group as a whole (but still below the mean for the general population), whereas those in FA-C had a significantly reduced height for age. GH response to stimulation testing was most consistently normal in participants from FA-G, but this did not reach statistical significance. The tendency toward hypothyroidism was more pronounced in participants belonging to complementation groups FA-C and FA-G, whereas insulin resistance was most evident in patients in FA-G, and least evident in those in FA-C. Short stature was a very common finding among the patients with a mean height >2 standard deviations below the reference mean (standard deviation score: -2.35 +/- 0.28). Patients with subn
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.107.4.744