The Determination of Cut-off Value of TSH during Screening of Congenital Hypothyroidism in 6 Prefecture/City of Yunnan Province / 昆明医科大学学报

Objective To explore the positive cut-off value in neonatal screening for congenital hypothyroidism(CH)in the center of Neonatal Screening , so as to improve screening efficiency and reduce false positive rate. Methods Heel blood samples were taken from the newborns born after72 hours,dropped in special S&S903 filter paper and delivered to the neonatal screening center within the prescribed period of time.DELFIA was applied to detect the concentration of thyroid-stimulating hormone(TSH).Result Totally 529918 blood sample were screened from the 2012 to the 2016.Among them 529645 newborns were normal, 203 neonates were diagnosed with CH, 70 with high TSH hyperlipidemia, the total detection rate was 1:1941, and the incidence of CH was 1:2610. According to the results, the cut-off value of the screening of CH in the center of Neonatal Screening was 9.0 mIU/L, the sensitivity was 100％and specifility was 98.38％, misdiagnosis rate was 0％. Conclusion The cut-off value of CH was 9.0 mIU/L in the center of Neonatal Screening ,which is suitable for the people in 6 Prefecture/City of Yunnan Province , and also provides the basis for neonatal scree of CH in the future.

Neonatal screening and a new cause of congenital central hypothyroidism

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.

Analysis of the Clinicl Characters and the Incidence Features of Neonatal Congenital Hypothy Roidism / 医学研究杂志

Objective To explore the incidence features of neonatal congenital hypothy roidism in Lianyungang area.Methods The heel blood samples dried on filter paper was collected from newborns after 72 hours.Serum thyroid stimulating hormone(TSH)level was detected by Dissociation enhancement lanthanide fluoroimmuno assay(DELFIA).The cases diagnosed were analyszd for the clinicl characters and the incidence features.Result One hundred and fifty-eighet children with CH were diagnosed and the patients lived in 63 towns(streets)(66.3%).The distribution of CH was diffuse in Lianyungang.There was significant difference in incidence of CH between 2007 to June of 2008 and before 2006.Eighty-two patients were examined by thyroid gland color ultrasound,among which there were sixty-eight patients whoes thyroid glands were normal(82.9%)and fourteen patients were unusal(absent,replacement,hypogenesis)(17.1%).A couple of twins(male)and two embryoes from the same parents were screened for CH.Conclusion There are iodine lack(MUI300?g/L)individual among people.The iodine nutrition condition of pregnant women is one of important factor to influence the TSH level of newborns.Neonatal screeing is the only valid means to find patients with CH.