Neonatal screening and a new cause of congenital central hypothyroidism.
10.6065/apem.2014.19.3.117
- Author:
Toshihiro TAJIMA
1
;
Akie NAKAMURA
;
Shuntaro MORIKAWA
;
Katsura ISHIZU
Author Information
1. Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan. tajeari@med.hokudai.ac.jp
- Publication Type:Review
- Keywords:
Congenital hypothyroidism (CH);
Neonatal screening;
Thyrotropin (TSH);
IGSF1
- MeSH:
Adolescent;
Cell Membrane;
Child;
Glycoproteins;
Humans;
Hypothyroidism*;
Immunoglobulins;
Infant, Newborn;
Neonatal Screening*;
Prolactin;
Puberty;
Puberty, Delayed;
Rare Diseases;
Thyroid Gland;
Thyrotropin;
Thyrotropin-Releasing Hormone;
Thyroxine
- From:Annals of Pediatric Endocrinology & Metabolism
2014;19(3):117-121
- CountryRepublic of Korea
- Language:English
-
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.
