Neonatal screening and a new cause of congenital central hypothyroidism
Annals of Pediatric Endocrinology & Metabolism
;
: 117-121, 2014.
Artigo
em Inglês
| WPRIM
| ID: wpr-16064
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Prolactina
/
Puberdade Tardia
/
Glândula Tireoide
/
Tiroxina
/
Imunoglobulinas
/
Tireotropina
/
Glicoproteínas
/
Membrana Celular
/
Triagem Neonatal
/
Puberdade
Tipo de estudo:
Estudo diagnóstico
/
Estudo de rastreamento
Limite:
Adolescente
/
Criança
/
Humanos
/
Recém-Nascido
Idioma:
Inglês
Revista:
Annals of Pediatric Endocrinology & Metabolism
Ano de publicação:
2014
Tipo de documento:
Artigo
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