Familial thyroxine-binding globulin deficiency detected in a pilot screening program for congenital hypothyroidism

M Carta Sorcini; L Moschini; L Fiore; S Tomarchio; Mg Di Irio; Emanuele Gilardi; Costantino Romagnoli; V Currò; S. Carta

Familial thyroxine-binding globulin deficiency detected in a pilot screening program for congenital hypothyroidism

M Carta Sorcini, L Moschini, L Fiore, S Tomarchio, Mg Di Irio, Emanuele Gilardi, Costantino Romagnoli, V Currò, S. Carta

Risultato della ricerca: Contributo in rivista › Articolo in rivista

5 Citazioni (Scopus)

Abstract

During a pilot screening program for congenital hypothyroidism, performed in Italy over a three years period on 38,000 newborns, seven cases (1/5,400) of thyroxine-binding globulin (TBG) deficiency, have been detected. None of these infants was affected by any pathology or had been treated with drugs which could explain TBG deficiency as an acquired condition. Familial studies pointed out that the transmission of the defect is consistent or compatible with X-chromosome linkage.

Lingua originale	English
pagine (da-a)	21-25
Numero di pagine	5
Rivista	Journal of Endocrinological Investigation
Volume	5
Stato di pubblicazione	Pubblicato - 1982
Pubblicato esternamente	Sì

Keywords

Congenital Hypothyroidism
Female
Heterozygote
Humans
Hypothyroidism
Infant, Newborn
Male
Thyroxine-Binding Proteins

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title = "Familial thyroxine-binding globulin deficiency detected in a pilot screening program for congenital hypothyroidism",

abstract = "During a pilot screening program for congenital hypothyroidism, performed in Italy over a three years period on 38,000 newborns, seven cases (1/5,400) of thyroxine-binding globulin (TBG) deficiency, have been detected. None of these infants was affected by any pathology or had been treated with drugs which could explain TBG deficiency as an acquired condition. Familial studies pointed out that the transmission of the defect is consistent or compatible with X-chromosome linkage.",

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journal = "Journal of Endocrinological Investigation",

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TY - JOUR

T1 - Familial thyroxine-binding globulin deficiency detected in a pilot screening program for congenital hypothyroidism

AU - Carta Sorcini, M

AU - Moschini, L

AU - Fiore, L

AU - Tomarchio, S

AU - Di Irio, Mg

AU - Gilardi, Emanuele

AU - Romagnoli, Costantino

AU - Currò, V

AU - Carta, S.

PY - 1982

Y1 - 1982

N2 - During a pilot screening program for congenital hypothyroidism, performed in Italy over a three years period on 38,000 newborns, seven cases (1/5,400) of thyroxine-binding globulin (TBG) deficiency, have been detected. None of these infants was affected by any pathology or had been treated with drugs which could explain TBG deficiency as an acquired condition. Familial studies pointed out that the transmission of the defect is consistent or compatible with X-chromosome linkage.

AB - During a pilot screening program for congenital hypothyroidism, performed in Italy over a three years period on 38,000 newborns, seven cases (1/5,400) of thyroxine-binding globulin (TBG) deficiency, have been detected. None of these infants was affected by any pathology or had been treated with drugs which could explain TBG deficiency as an acquired condition. Familial studies pointed out that the transmission of the defect is consistent or compatible with X-chromosome linkage.

KW - Congenital Hypothyroidism

KW - Female

KW - Heterozygote

KW - Humans

KW - Hypothyroidism

KW - Infant, Newborn

KW - Male

KW - Thyroxine-Binding Proteins

KW - Congenital Hypothyroidism

KW - Female

KW - Heterozygote

KW - Humans

KW - Hypothyroidism

KW - Infant, Newborn

KW - Male

KW - Thyroxine-Binding Proteins

UR - http://hdl.handle.net/10807/19012

M3 - Article

SN - 0391-4097

VL - 5

SP - 21

EP - 25

JO - Journal of Endocrinological Investigation

JF - Journal of Endocrinological Investigation

ER -

Familial thyroxine-binding globulin deficiency detected in a pilot screening program for congenital hypothyroidism

Abstract

Keywords

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