Multiple ovarian antral follicles in a preterm infant with neonatal intrahepatic cholestasis caused by citrin deficiency: A clinical, genetic and transcriptional analysis

Gene

Volumn 505, Issue 2, 2012, Pages 269-275

  Lin, Wei Xia ^a   Zhang, Zhan Hui ^a   Deng, Mei ^a   Cai, Xiang Ran ^a   Song, Yuan Zong ^a  

^a JINAN UNIVERSITY   (China)

Author keywords

Antral follicle; Citrin deficiency; Mutation; SLC25A13; Splice variant

Indexed keywords

CARRIER PROTEINS AND BINDING PROTEINS; ERIODICTYOL 7 O GLUCOSIDE; ESTRADIOL; FOLLITROPIN; LUTEINIZING HORMONE; MEDIUM CHAIN TRIACYLGLYCEROL; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; ARTIFICIAL MILK; CASE REPORT; DISEASE DURATION; ESTRADIOL BLOOD LEVEL; FEMALE; FOLLITROPIN BLOOD LEVEL; GENE MUTATION; GENETIC TRANSCRIPTION; GESTATIONAL AGE; HUMAN; HYPOTHALAMUS HYPOPHYSIS GONAD SYSTEM; INFANT; INTRAHEPATIC CHOLESTASIS; JAUNDICE; LIVER FUNCTION TEST; LUTEINIZING HORMONE BLOOD LEVEL; MUTATIONAL ANALYSIS; NEONATAL INTRAHEPATIC CHOLESTASIS CAUSED BY CITRIN DEFICIENCY; NEWBORN DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; OVARY ANTRAL FOLLICLE; OVARY CYST; OVARY FOLLICLE; PERIPHERAL LYMPHOCYTE; PREMATURITY; PRIORITY JOURNAL;

CALCIUM-BINDING PROTEINS; CITRULLINEMIA; ESTRADIOL; FEMALE; FOLLICLE STIMULATING HORMONE; HUMANS; INFANT, NEWBORN; INFANT, PREMATURE; LUTEINIZING HORMONE; LYMPHOCYTES; MAGNETIC RESONANCE IMAGING; MUTATION; ORGANIC ANION TRANSPORTERS; OVARIAN CYSTS; OVARIAN FOLLICLE; TRANSCRIPTION, GENETIC; TREATMENT OUTCOME; TRIGLYCERIDES;

EID: 84864151831     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.06.012     Document Type: Article

References (42)

1. Apter D., Cacciatore B., Alfthan H., Stenman U.H. Serum luteinizing hormone concentrations increase 100-fold in females from 7 years to adulthood, as measured by time-resolved immunofluorometric assay. J. Clin. Endocrinol. Metab. 1989, 68:53-57.
2. Belgorosky A., Chahin S., Chaler E., Maceiras M., Rivarola M.A. Serum concentrations of follicle stimulating hormone and luteinizing hormone in normal girls and boys during prepuberty and at early puberty. J. Endocrinol. Invest. 1996, 19:88-91.
3. Ben-Shalom E., et al. Infantile citrullinemia caused by citrin deficiency with increased dibasic amino acids. Mol. Genet. Metab. 2002, 77:202-208.
4. Chellakooty M., et al. Inhibin A, inhibin B, follicle-stimulating hormone, luteinizing hormone, estradiol, and sex hormone-binding globulin levels in 473 healthy infant girls. J. Clin. Endocrinol. Metab. 2003, 88:3515-3520.
5. Dimmock D., et al. Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet. Pediatrics 2007, 119:e773-e777.
6. Dimmock D., et al. Citrin deficiency, a perplexing global disorder. Mol. Genet. Metab. 2009, 96:44-49.
7. Fiermonte G., et al. A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study. Mol. Genet. Metab. 2011, 104:501-506.
8. Fu H.Y., Zhang S.R., Yu H., Wang X.H., Zhu Q.R., Wang J.S. Most common SLC25A13 mutation in 400 Chinese infants with intrahepatic cholestasis. World J. Gastroenterol. 2010, 16:2278-2282.
9. Fu H.Y., Zhang S.R., Wang X.H., Saheki T., Kobayashi K., Wang J.S. The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia. J. Gastroenterol. 2011, 46:510-518.
10. Garibaldi L.R., Picco P., Magier S., Chevli R., Aceto T. Serum luteinizing hormone concentrations, as measured by a sensitive immunoradiometric assay, in children with normal, precocious or delayed pubertal development. J. Clin. Endocrinol. Metab. 1991, 72:888-898.
11. Greaves R., Hunt R.W., Zacharin M. Transient anomalies in genital appearance in some extremely preterm female infants may be the result of foetal programming causing a surge in LH and the over activation of the pituitary-gonadal axis. Clin. Endocrinol. (Oxf) 2008, 69:763-768.
12. Grumbach M.M., Styne D.M. Hormones and metabolic changes in puberty. Williams Textbook of Endocrinology 2002, 1141-1148. W.B. Saunders, Pennsylvania. 10th ed. P.R. Larsen, H.M. Kronenberg, S. Melmed, K. Polonsky (Eds.).
13. Kikuchi A., et al. Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13. Mol. Genet. Metab. 2012, 105:553-558.
14. Kimura A., et al. Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency. Hepatol. Res. 2010, 40:295-303.
15. Ko J.M., et al. Six cases of citrin deficiency in Korea. Int. J. Mol. Med. 2007, 20:809-815.
16. Ko J.S., Song J.H., Park S.S., Seo J.K. Neonatal intrahepatic cholestasis caused by citrin deficiency in Korean infants. J. Korean Med. Sci. 2007, 22:952-956.
17. Kobayashi K., Saheki T., Song Y.Z. Citrin deficiency. GeneReviews [Internet] 2012, University of Washington, Seattle (WA), 1993-2005 Sep 16 (updated 2012 Jan 05). R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.).
18. Kobayashi K., et al. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat. Genet. 1999, 22:159-163.
19. Kuiri-Hänninen T., et al. Postnatal developmental changes in the pituitary-ovarian axis in preterm and term infant girls. J. Clin. Endocrinol. Metab. 2011, 96:3432-3439.
20. Kuiri-Hänninen T., et al. Increased activity of the hypothalamic-pituitary-testicular axis in infancy results in increased androgen action in premature boys. J. Clin. Endocrinol. Metab. 2011, 96:98-105.
21. Lin J.T., et al. High resolution melting analysis for the detection of SLC25A13 gene mutations in Taiwan. Clin. Chim. Acta 2011, 412:460-465.
22. Ohura T., et al. Neonatal presentation of adult-onset type II citrullinemia. Hum. Genet. 2001, 108:87-90.
23. Ohura T., et al. A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency. Eur. J. Pediatr. 2003, 162:317-322.
24. Ohura T., et al. Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). J. Inherit. Metab. Dis. 2007, 30:139-144.
25. Saheki T., Kobayashi K. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J. Hum. Genet. 2002, 47:333-341.
26. Saheki T., et al. Pathogenesis and pathophysiology of citrin (a mitochondrial aspartate glutamate carrier) deficiency. Metab. Brain Dis. 2002, 17:335-346.
27. Saheki T., et al. Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency. Mol. Genet. Metab. 2011, 104:492-500.
28. Song Y.Z., Huang X.C., Zhang T., Wang Z.N. Succinylacetone-negative tyrosinemia type I: a case report from China. Jpn. J. Inherit. Metab. Dis. 2006, 22:63-65.
29. Song Y.Z., Sheng J.S., Ushikai M., Hwu W.L., Zhang C.H., Kobayashi K. Identification and diagnosis of three novel mutations in SLC25A13 gene of neonatal intrahepatic cholestasis caused by citrin deficiency. Zhonghua Er Ke Za Zhi 2008, 46:411-415.
30. Song Y.Z., et al. Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical and laboratory investigation of 13 subjects in mainland of China. Dig. Liver Dis. 2009, 41:683-689.
31. Song Y.Z., et al. Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center. Int. J. Mol. Med. 2011, 28:33-40.
32. Tabata A., et al. Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency. J. Hum. Genet. 2008, 53:534-545.
33. Takaya J., et al. Variant clinical courses of 2 patients with neonatal intrahepatic cholestasis who have a novel mutation of SLC25A13. Metabolism 2005, 54:1615-1619.
34. Tamamori A., et al. Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. Eur. J. Pediatr. 2002, 161:609-613.
35. Tazawa Y., et al. Infantile cholestatic jaundice associated with adult-onset type II citrullinemia. J. Pediatr. 2001, 138:735-740.
36. Tazawa Y., et al. Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients. Mol. Genet. Metab. 2004, 83:213-219.
37. Thong M.K., Boey C.C., Sheng J.S., Ushikai M., Kobayashi K. Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life. Singapore Med. J. 2010, 51:e12-e14.
38. Tokuhara D., et al. Novel diagnostic approach to citrin deficiency: analysis of citrin protein in lymphocytes. Mol. Genet. Metab. 2007, 90:30-36.
39. Tomomasa T., et al. Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy. J. Pediatr. 2001, 138:741-743.
40. Wong L.J., et al. Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. Clin. Chem. 2008, 54:1141-1148.
41. Yamaguchi N., et al. Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. Hum. Mutat. 2002, 19:122-130.
42. Yeh J.N., Jeng Y.M., Chen H.L., Ni Y.H., Hwu W.L., Chang M.H. Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants. J. Pediatr. 2006, 148:642-646.