Small pituitary size in children with Fanconi anemia.
BACKGROUND
Fanconi anemia (FA) is a genetic disorder associated with multiple congenital anomalies, bone marrow failure, and pituitary hypofunction including hypogonadism, thyroid dysfunction, and growth hormone (GH) deficiency.


METHODS
Among 44 patients with FA referred to Cincinnati Children's Hospital Medical Center (CCHMC) between 1975 and 2005, 33 had neuroimaging studies, including 11 cranial magnetic resonance imaging (MRIs). Two separate measurements per patient from these MRIs were used to evaluate pituitary height compared to on-site control data of similar measurements of cranial MRIs on 22 age and gender-matched children without any pathology involving the hypothalamic-pituitary system. Growth pattern and endocrine studies were reviewed to assess potential correlation with pituitary size.


RESULTS
When compared to the age-gender matched on-site control sample, the mean pituitary height of FA patients was significantly smaller (P < 0.0001; mean +/- SE from mixed effects model with age and gender as covariates: 3.96 +/- 0.32 vs. 5.76 +/- 0.24). Upon further adjusting for the effect of the small head size by including bi-parietal diameter (BPD) as a covariate, the difference remained statistically significant (P = 0.0013). Findings on the growth pattern and endocrinological measurements are as follows: 50% of patients with small pituitary gland were short. GH and adrenal function tests were normal in all tested patients. Thyroid, pubertal status, and glucose regulation were abnormal in 30, 50, and 75% of patients tested.


CONCLUSIONS
Children with FA tend to have unsuspected small pituitary glands beyond what is expected from the effects of their stunted growth. Further studies are required to reveal the clinical implications of this finding.
Sherafat-Kazemzadeh
Rosa
R
Division of Endocrinology, Cincinnati Children's Hospital Medical Center and University of Cincinnati, Cincinnati, Ohio.
Mehta
Sanjeev N
SN
Care
Marguerite M
MM
Kim
Mi-Ok
MO
Williams
David A
DA
Rose
Susan R
SR
D000293:Adolescent; D000324:Adrenocorticotropic Hormone; D000365:Age Determination by Skeleton; D001827:Body Height; D016022:Case-Control Studies; D002508:Cephalometry; D002648:Child; D002675:Child, Preschool; D004393:Dwarfism, Pituitary / Q000097:blood / Q000209:etiology / Q000473:pathology; D005199:Fanconi Anemia / Q000097:blood / Q000150:complications / Q000473:pathology*; D005260:Female; D018149:Glucose Intolerance; D012739:Gonadal Steroid Hormones / Q000097:blood; D019382:Human Growth Hormone / Q000097:blood; D006801:Humans; D006854:Hydrocortisone / Q000097:blood / Q000378:metabolism; D007018:Hypopituitarism / Q000097:blood / Q000209:etiology / Q000473:pathology; D007333:Insulin Resistance; D018972:Insulin-Like Growth Factor Binding Protein 3; D018969:Insulin-Like Growth Factor Binding Proteins / Q000097:blood; D007334:Insulin-Like Growth Factor I / Q000032:analysis; D008279:Magnetic Resonance Imaging; D008297:Male; D008831:Microcephaly / Q000097:blood / Q000209:etiology / Q000473:pathology; D009929:Organ Size; D010902:Pituitary Gland / Q000473:pathology*; D010908:Pituitary Hormones, Anterior / Q000097:blood; D011628:Puberty, Delayed / Q000209:etiology; D013963:Thyroid Hormones / Q000097:blood
D012739:Gonadal Steroid Hormones; C515497:IGFBP3 protein, human; D018972:Insulin-Like Growth Factor Binding Protein 3; D018969:Insulin-Like Growth Factor Binding Proteins; D010908:Pituitary Hormones, Anterior; D013963:Thyroid Hormones; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I; D000324:Adrenocorticotropic Hormone; D006854:Hydrocortisone