Premature Pubarche, XXXX and Hypothyroxinemia: Novel Manifestations of Congenital Portosystemic Shunts (Abernethy Malformation) in @entity1 .

@entity1 @entity3610 @entity251 @entity2990 @entity96 @entity75 @entity2494 @entity4053 @entity3800 @entity1448 @entity3190 @entity4854 @entity3939 @entity2671 @entity413
UNASSIGNED: Congenital portosystemic shunt (CPSS) is persistence of an anomalous embryological connection of the portal vein with a large vein of the vena cava system. Clinical presentations include @entity1448 , @entity96 , and @entity75 , but can be variable in timing and symptomatology. We report 2 @entity1 who presented 10 years apart with the same complaint of early pubarche at age 7 years, with inappropriately low @entity2990 levels. In addition to @entity3610 (elevated @entity251 and @entity2671 ) and advanced bone age, both had @entity3190 , and hypothyroxinemia. The 2nd case also had symptomatic @entity4053 . Presentation of CPSS with this combination of findings in prepubertal @entity1 has not been reported previously. With further investigations, we proposed novel mechanisms explaining these manifestations. @entity3610 is caused by decreased hepatic sulfation of @entity2494 to less active DHEAS due to shunting of @entity2494 to systemic circulation. Elevated @entity2494 is then used for synthesis of more potent @entity3800 . Shunting of postabsorbtive @entity413 from portal to systemic circulation causes early @entity4854 leading to exaggerated insulin secretion. Insulin bypasses the hepatic metabolism directly entering into the systemic circulation, which results in @entity3190 , then in turn causes late @entity4053 . Finally, hypothyroxinemia was linked to @entity3939 deficiency, which has not been reported in CPSS.    2015 S. Karger AG, Basel.
