Yasuji Inamo1, Kensuke Harada. 1. Department of General Paediatrics, Nihon University School of Medicine, Nihon University Nerima-Hikarigaoka Hospital, Hikarigaoka 2-11-1 Nerima-Ku, 179-0072 Tokyo, Japan. y-inamo@pb3.so-net.ne.jp
Abstract
UNLABELLED: We describe a patient with microphallus without pigmentation and multiple pituitary hormone deficiencies. The left internal carotid artery and carotid canal were absent and the pituitary gland and sella turcica showed hypoplasia on MRI and magnetic resonance angiography. The internal carotid artery develops in the 4th embryonic week, while the pituitary primordium develops in the 3rd to 4th week. This suggests a possible relationship between internal carotid artery and congenital hypopituitarism. However, there is bilateral blood supply to the hypophysis via the superior and inferior hypophysial arteries, so it is unknown why pituitary hypoplasia may arise from blocking the unilateral blood supply. CONCLUSION: Disruption of internal carotid artery perfusion may lead to pituitary hypoplasia with congenital hypopituitarism as a new disease entity in humans.
UNLABELLED: We describe a patient with microphallus without pigmentation and multiple pituitary hormone deficiencies. The left internal carotid artery and carotid canal were absent and the pituitary gland and sella turcica showed hypoplasia on MRI and magnetic resonance angiography. The internal carotid artery develops in the 4th embryonic week, while the pituitary primordium develops in the 3rd to 4th week. This suggests a possible relationship between internal carotid artery and congenital hypopituitarism. However, there is bilateral blood supply to the hypophysis via the superior and inferior hypophysial arteries, so it is unknown why pituitary hypoplasia may arise from blocking the unilateral blood supply. CONCLUSION: Disruption of internal carotid artery perfusion may lead to pituitary hypoplasia with congenital hypopituitarism as a new disease entity in humans.
Authors: Jack E Steiner; Garrett N McCoy; Christopher P Hess; William B Dobyns; Denise W Metry; Beth A Drolet; Mohit Maheshwari; Dawn H Siegel Journal: Am J Med Genet A Date: 2017-11-24 Impact factor: 2.802