Unknown

Dataset Information

0

Neonatal screening and a new cause of congenital central hypothyroidism.


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.

SUBMITTER: Tajima T 

PROVIDER: S-EPMC4208260 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature

altmetric image

Publications

Neonatal screening and a new cause of congenital central hypothyroidism.

Tajima Toshihiro T   Nakamura Akie A   Morikawa Shuntaro S   Ishizu Katsura K  

Annals of pediatric endocrinology & metabolism 20140930 3


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 abs  ...[more]

Similar Datasets

| S-EPMC6821475 | biostudies-literature
| S-EPMC5763485 | biostudies-literature
| S-EPMC8458656 | biostudies-literature
| S-BSST736 | biostudies-other
| S-EPMC8439228 | biostudies-literature
| S-EPMC7396660 | biostudies-literature
2010-05-31 | E-GEOD-18152 | biostudies-arrayexpress
| S-EPMC6171088 | biostudies-literature
| S-EPMC8215938 | biostudies-literature
| S-EPMC6237461 | biostudies-literature