J Pediatr 2015 Dec 15;167(6):1334-9.e1. Epub 2015 Sep 15.
Department of Pediatrics, Shanghai Medical College, Fudan University, Center for Pediatric Liver Diseases, Children's Hospital of Fudan University, Shanghai, China; Department of Pediatrics, Jinshan Hospital, Fudan University, Shanghai, China. Electronic address:
Objective: To examine whether hypothyroidism is an extrahepatic feature of ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1) deficiency.
Study Design: Children with normal γ-glutamyltransferase cholestasis (n = 47; 13 patients with ATP8B1 deficiency, 19 with ATP-binding cassette, subfamily B (MDR/TAP), member 11 (ABCB11) deficiency, and 15 without either ATP8B1 or ABCB11 mutations) were enrolled. Clinical information and thyroid function test results were retrospectively retrieved from clinical records and compared. Read More