Acta Scientific Paediatrics (ISSN: 2581-883X)

Case Report Volume 4 Issue 8

Growth Hormone Deficiency and Citrin Deficiency: A Case Report

Masayo Yamazaki1*, Makiko Oguma1, Koji Yokoyama1, Natsuko Ichinoi2, Atsuo Kikuchi2, Shigeo Kure2, Toshihiro Tajima1 and Takanori Yamagata1

1Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan
2Department of Pediatrics, Tohoku University Graduate School of Medicine, Aoba, Sendai, Miyagi, Japan

*Corresponding Author: Masayo Yamazaki, Department of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi, Japan.

Received: June 21, 2021; Published: July 08, 2021


  Citrin deficiency (CD) is an autosomal recessive disorder that causes a variety of symptoms such as neonatal intrahepatic cholestasis caused by CD (NICCD), failure to thrive, hypoglycemia, and growth failure. We report on a young female with CD complicated with growth hormone deficiency (GHD).

  The patient developed afebrile seizure due to hypoglycemia with short stature at three years of age. Detailed medical examinations were carried out. Amino acid levels were within normal range. Biochemical evaluation showed GHD and central hypothyroidism. In the neonatal period, icterus was not indicated. The mother was interviewed; there seemed to have been repeated hypoglycemic episodes. Thereafter, GH and levothyroxine supplementation were initiated. Hypoglycemia was not improved. The patient’s preference for a high-protein, high-fat, and low-carbohydrate diet was noticed during follow-up. CD was suspected, and genetic analysis confirmed the diagnosis of CD.

  As hypoglycemia and growth failure are both indicative of CD, it is necessary to consider CD when looking at both of them. In addition, GHD may be involved in growth failure of a patient’s CD. Regarding of this point, further studies of patients with CD are required.

Keywords: Citrin Deficiency; Hypoglycemia; Short Stature; Growth Hormone Deficiency; Mitochondrial Dysfunction


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Citation: Masayo Yamazaki., et al. “Growth Hormone Deficiency and Citrin Deficiency: A Case Report”. Acta Scientific Paediatrics 4.8 (2021): 24-28.


Copyright: © 2021 Masayo Yamazaki., et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


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