ESPE2023 Poster Category 1 Pituitary, Neuroendocrinology and Puberty (73 abstracts)
Evaluation of the pituitary gland in patients with Fanconi Anemia
Beatriz Corredor Andrés 1 , Inés Solis Muñiz 1 , Josune Zubicaray 1 , Álvaro Martín Rivada 1 , Vicente Barrios Sabador 1 , Julián Sevilla 1 & Jesús Argente 1,2,3,4
1Hospital Universitario Niño Jesús, Madrid, Spain. 2IMDEA, Research Institute on Food and Health Sciences, CEIUAM+CSI., Madrid, Spain. 3CIBEROBN Physiopathology of Obesity and Nutrition Biomedical Research Centre. Instituto de Salud Carlos III, Madrid, Spain. 4Department of Pediatrics. Universidad Autónoma de Madrid., Madrid, Spain
Introduction: Fanconi anemia (FA) is a genomic instability syndrome associated with congenital abnormalities. Structural anomalies of the central nervous system (CNS), particularly a small pituitary gland, have been published in a few case series. This has been thought to be the cause of the short stature (SS) observed in FA.
Methods: A cross-sectional exploratory study was carried out in pediatric patients at the FA Spanish reference center. Magnetic resonance imaging (MRI) was performed in 21 patients (11=females) between 2017 and 2022. Pituitary volumme (PV) was determined by elipse formula and expressed in SD adjusted for sex and age. MRIs were independently assessed by two observers.
Results: The median age was 11.1 years (IQR:8.8-14.4). MRI abnormalities were found in 11 patients (52.4%;Table 1). The median value of PV was -1.03 SD (IQR:-1.31,-0.36) and pituitary-height was -0.16 SD (IQR:-1.12,0.68). The ICC for volume SD was 0.62 (95%[CI] 0.03-0.85) and pituitary-height 0.95 95%[CI] 0.87-0.98) with a good correlation between observers. In 52.4 % PV was ≤-1SD. The median height was -2.3 SD (IQR:-2.8,-1.5) and 66.7% had SS. All have normal values of IGF1 and IGFBP3, except on patient with GHD. No statistically significant attributable factors were found to be associated with small PV (mutation, sex, pubertal stage, radiotherapy, SS, hormones deficiencies, IGF1 and IGBP3 values).
| TANNER | AGE (years) | HEIGHT (SD) | PITUITARY VOLUMME (SD) | HORMONAL DEFICIENCIES | BRAIN ABNORMALITIES |
| 1 | 6.76 | -2.52 | -1.31 | ||
| 1 | 8.81 | -2.63 | -1.81 | CHIARI 1 | |
| 1 | 9.14 | -2.28 | -1.59 | ||
| 1 | 11.30 | -2.53 | -1.21 | THICKENING OF THE PITUITARY INFUNDIBULUM | |
| 1 | 10.73 | -1.37 | -1.30 | THORNWALDT'S CYST | |
| 1 | 14.72 | -2.96 | -0,01 | HH | CORTICOSUBCORTICAL CAVERNOMAS |
| 3 | 13.77 | -1.58 | -1.97 | HH | NON-SPECIFIC WHITE MATTER LESION |
| 4 | 15.58 | -0.26 | 0.89 | HH | SUPRAVERMIAN CISTERNAL LIPOMA |
| 5 | 17.16 | -2.30 | -0.36 | HH | |
| 1* | 3.57 | -1.04 | -2.05 | ||
| 1* | 7.34 | -2.07 | -1.03 | ||
| 1* | 7.39 | -2.50 | -0.79 | CHIARI 1 | |
| 1* | 8.57 | -2.96 | -0.17 | ||
| 1* | 9.59 | -1.47 | -1.27 | CHIARI 1 | |
| 2* | 11.11 | -3.62 | 0.45 | HH | |
| 3* | 10.50 | -2.20 | -0.62 | CORTICAL ATROPHY | |
| 5* | 11.99 | -0.63 | -0.77 | HH | |
| 5* | 13.82 | -2.76 | 0.01 | NEUROGLIAL CYST | |
| 5* | 14.44 | -1.19 | -1.00 | MILD PITUITARY STALK THICKENING | |
| 5* | 16.03 | -3.39 | -1.17 | CORPUS CALLOSUM HYPOPLASIA | |
| 5* | 17.92 | -4.90 | -2.2 | GHD | SMALL ADENOHYPOPHYSIS AND ECTOPIC NEUROHYPOPHYSIS |
Discussion: CNS abnormalities are frequent in FA, including a slightly small pituitary gland. These results indicate FA pathway could be involved in the development of CNS. The etiology of SS does not seem to be related to this.
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