Neonatal screening and a new cause of congenital central hypothyroidism
1
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
Congenital central hypothyroidism (C-CH) is a rare disease in which thyroid hormone deficiency is caused by insufficient thyrotropin (TSH) stimulation of a normally-located thyroid gland. Most patients with C-CH have low free thyroxine levels and inappropriately low or normal TSH levels, although a few have slightly elevated TSH levels. Autosomal recessive TSH deficiency and thyrotropin-releasing hormone receptor-inactivating mutations are known to be genetic causes of C-CH presenting in the absence of other syndromes. Recently, deficiency of the immunoglobulin superfamily member 1 (IGSF1) has also been demonstrated to cause C-CH. IGSF1 is a plasma membrane glycoprotein highly expressed in the pituitary. Its physiological role in humans remains unknown. IGSF1 deficiency causes TSH deficiency, leading to hypothyroidism. In addition, approximately 60% of patients also suffer a prolactin deficiency. Moreover, macroorchidism and delayed puberty are characteristic features. Thus, although the precise pathophysiology of IGSF1 deficiency is not established, IGSF1 is considered to be a new factor controlling growth and puberty in children.
Abstract
Congenital central hypothyroidism (C-CH) is a rare disease in which thyroid hormone deficiency is caused by insufficient thyrotropin (TSH) stimulation of a normally-located thyroid gland. Most patients with C-CH have low free thyroxine levels and inappropriately low or normal TSH levels, although a few have slightly elevated TSH levels. Autosomal recessive TSH deficiency and thyrotropin-releasing hormone receptor-inactivating mutations are known to be genetic causes of C-CH presenting in the absence of other syndromes. Recently, deficiency of the immunoglobulin superfamily member 1 (IGSF1) has also been demonstrated to cause C-CH. IGSF1 is a plasma membrane glycoprotein highly expressed in the pituitary. Its physiological role in humans remains unknown. IGSF1 deficiency causes TSH deficiency, leading to hypothyroidism. In addition, approximately 60% of patients also suffer a prolactin deficiency. Moreover, macroorchidism and delayed puberty are characteristic features. Thus, although the precise pathophysiology of IGSF1 deficiency is not established, IGSF1 is considered to be a new factor controlling growth and puberty in children.
참고문헌 (31)
- LaFranchi SH, "Newborn screening strategies for congenital hypothyroidism: an update", J Inherit Metab Dis, 33(Suppl 2), pp.S225~S233 (2010)
- LaFranchi SH, "Approach to the diagnosis and treatment of neonatal hypothyroidism", J Clin Endocrinol Metab, 96, pp.2959~2967 (2011)
- Lanting CI, "Clinical effectiveness and cost-effectiveness of the use of the thyroxine", thyroxine-binding globulin ratio to detect congenital hypothyroidism of thyroidal and central origin in a neonatal screening program, 2005, pp.116, 168~173
- Fujiwara F, "Central congenital hypothyroidism detected by neonatal screening in Sapporo, Japan (2000-2004):it's prevalence and clinical characteristics", Clin Pediatr Endocrinol, 17, pp.65~69 (2008)
- Tajima T, "Elevated free thyroxine levels detected by a neonatal screening system", Pediatr Res, 66, pp.312~316 (2009)
- Adachi M, "Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper", Eur J Endocrinol, 166, pp.829~838 (2012)
- Kelberman D, "Role of transcription factors in midline central nervous system and pituitary defects", Endocr Dev, 14, pp.67~82 (2009)
- Pfäffle R, "Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency", Best Pract Res Clin Endocrinol Metab, 25, pp.43~60 (2011)
- Tajima T, "Molecular and clinical findings in patients with LHX4 and OTX2 Mutations", Clin Pediatr Endocrinol, 22, pp.15~23 (2013)
- Miyai K, "Familial isolated thyrotropin deficiency with cretinism", N Engl J Med, 285, pp.1043~1048 (1971)
- Hayashizaki Y, "Thyroid-stimulating hormone (TSH) deficiency caused by a single base substitution in the CAGYC region of the betasubunit", EMBO J, 8, pp.2291~2296 (1989)
- Collu R, "A novel mechanism for isolated central hypothyroidism:inactivating mutations in the thyrotropin-releasing hormone receptor gene", J Clin Endocrinol Metab, 82, pp.1561~1565 (1997)
- Bonomi M, "A family with complete resistance to thyrotropin-releasing hormone", N Engl J Med, 360, pp.731~734 (2009)
- Sun Y, "Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement", Nat Genet, 44, pp.1375~1381 (2012)
- Tajima T, "A novel mutation of IGSF1in a Japanese patient of congenital central hypothyroidism without macroorchidism", Endocr J, 60, pp.245~249 (2013)
- Nakamura A, "Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism", J Clin Endocrinol Metab, 98, pp.E1682~E1691 (2013)
- Joustra SD, "The IGSF1 deficiency syndrome:characteristics of male and female patients", J Clin Endocrinol Metab, 98, pp.4942~4952 (2013)
- Mazzarella R, "Cloning and expression of an immunoglobulin superfamily gene (IGSF1) in Xq25", Genomics, 48, pp.157~162 (1998)
- Robakis T, "An internal signal sequence directs intramembrane proteolysis of a cellular immunoglobulin domain protein", J Biol Chem, 283, pp.36369~36376 (2008)
- Bernard DJ, "Inhibin binding protein (InhBP", p120), betaglycan, and the continuing search for the inhibin receptor, 2002, pp.16, 207~212
- Bernard DJ, "Normal reproductive function in InhBP", p120-deficient mice, 2003, pp.23, 4882~4891
- Chapman SC, "Properties of inhibin binding to betaglycan, InhBP", p120 and the activin type II receptors, 2002, pp.196, 79~93
- Barclay AN, "Membrane proteins with immunoglobulin-like domains: a master superfamily of interaction molecules", Semin Immunol, 15, pp.215~223 (2003)
- Xu Z, "A novel interface consisting of homologous immunoglobulin superfamily members with multiple functions", Cell Mol Immunol, 7, pp.11~9 (2010)
- Ohtani H, "Molecular evolution of immunoglobulin superfamily genes in primates", Immunogenetics, 63, pp.417~428 (2011)
- Babu K, "The immunoglobulin super family protein RIG-3 prevents synaptic potentiation and regulates Wnt signaling", Neuron, 71, pp.103~116 (2011)
- Irintchev A, "The injured and regenerating nervous system: immunoglobulin superfamily members as key players", Neuroscientist, 18, pp.452~466 (2012)
- Yu XM, "Plum, an immunoglobulin superfamily protein, regulates axon pruning by facilitating TGF-β signaling", Neuron, 78, pp.456~468 (2013)
- Malaguti A, "Molecular mechanisms for pituitary thyrotroph cell growth", J Endocrinol Invest, 27(6Suppl), pp.151~167 (2004)
- Shibusawa N, "Requirement of thyrotropin-releasing hormone for the postnatal functions of pituitary thyrotrophs: ontogeny study of congenital tertiary hypothyroidism in mice", Mol Endocrinol, 14, pp.137~146 (2000)
- Inokuchi M, "Tracking of BMI in Japanese children from 6 to 18 years of age:reference values for annual BMI incremental change and proposal for size of increment indicative of risk for obesity", Ann Hum Biol, 38, pp.146~149 (2011)