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. 2022;31(2):98-100.
doi: 10.1297/cpe.2021-0071. Epub 2022 Jan 14.

A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism

Toshihiro Tajima  1 , Makiko Oguma  1
Affiliations

A novel nonsense variant (p.Arg1293Ter) of the immunoglobulin superfamily 1 (IGSF1) associated with congenital hypogonadotropic hypogonadism and central hypothyroidism

Toshihiro Tajima et al. Clin Pediatr Endocrinol. 2022.
No abstract available

Keywords: IGSF1; central hypothyroidism; hypogonadotropic hypogonadism; novel variant.

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Figures

Fig. 1.
Fig. 1.
(A) Growth chart of the patient. (B, C) Magnetic resonance imaging showing no olfactory bulb, but a normal pituitary gland and stalk. (D) Sanger sequencing showing the c.3877C>T (p. Arg1293Ter) (Red arrow).
See this image and copyright information in PMC

References

    1. Nakamura A, Bak B, Silander TL, Lam J, Hotsubo T, Yorifuji T, et al. . Three novel IGSF1 mutations in four Japanese patients with X-linked congenital central hypothyroidism. J Clin Endocrinol Metab 2013;98: E1682–91. doi: 10.1210/jc.2013-1224 - DOI - PubMed
    1. Joustra SD, Heinen CA, Schoenmakers N, Bonomi M, Ballieux BE, Turgeon MO, et al. . IGSF1 Clinical Care Group. IGSF1 Deficiency: Lessons from an extensive case series and recommendations for clinical management. J Clin Endocrinol Metab 2016;101: 1627–36. doi: 10.1210/jc.2015-3880 - DOI - PMC - PubMed
    1. Tajima T, Nakamura A, Oguma M, Yamazaki M. Recent advances in research on isolated congenital central hypothyroidism. Clin Pediatr Endocrinol 2019;28: 69–79. doi: 10.1297/cpe.28.69 - DOI - PMC - PubMed
    1. Amato LGL, Montenegro LR, Lerario AM, Jorge AAL, Guerra Junior G, Schnoll C, et al. . New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism. Eur J Endocrinol 2019;181: 103–19. doi: 10.1530/EJE-18-0764 - DOI - PubMed
    1. Asakura Y, Abe K, Muroya K, Hanakawa J, Oto Y, Narumi S, et al. . Combined growth hormone and thyroid-stimulating hormone deficiency in a Japanese patient with a novel frameshift mutation in IGSF1. Horm Res Paediatr 2015;84: 349–54. doi: 10.1159/000438672 - DOI - PubMed