A search for the possible molecular mechanisms of thyroid dysgenesis:: Sex ratios and associated malformations

被引:128
作者
Devos, H
Rodd, C
Gagné, N
Laframboise, R
Van Vliet, G
机构
[1] Univ Montreal, Dept Pediat, Montreal, PQ H3T 1C5, Canada
[2] McGill Univ, Dept Pediat, Montreal, PQ H3T 1C5, Canada
[3] Univ Sherbrooke, Dept Pediat, Montreal, PQ H3T 1C5, Canada
[4] Univ Laval, Dept Pediat, Montreal, PQ H3T 1C5, Canada
关键词
D O I
10.1210/jc.84.7.2502
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Permanent primary congenital hypothyroidism (CH) can be caused by abnormal thyroid differentiation (athyreosis), migration (ectopy), or function (leading to goiter). Goiters follow an autosomal recessive pattern of inheritance, whereas ectopy and athyreosis are considered as a single sporadic entity with a female preponderance. On the other hand, a high prevalence of extrathyroidal malformations has been reported in CB, but without linking specific defects to specific types of CN. On the basis of TSH screening, 273 newborns were referred to an academic pediatric endocrinology clinic in the province of Quebec between 1988 and 1997. Of 230 patients with permanent primary CN who had scintigraphy at diagnosis, 141 had ectopy (104 girls), 36 had athyreosis (21 girls), 42 had goiter (18 girls), 10 (3 girls) had a normal scan, and 1 girl had hemiagenesis. Only in the ectopies was the proportion of girls girls significantly higher than 0.5 (P < 0.001). Isolated cardiac malformations were observed in 7 patients (3.0%), a prevalence 5-fold higher than that in the general population; this was largely due to atrial and ventricular septal defects, which were only observed in ectopy and athyreosis. Our data suggest that the molecular mechanisms that lead to complete absence of thyroid differentiation or defective thyroid migration 1) may be similar, but are modulated by the genetic makeup of the embryo and/or the hormonal milieu of the fetus; and 2) may also be involved in septation of the embryonic heart.
引用
收藏
页码:2502 / 2506
页数:5
相关论文
共 46 条
[1]   Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland [J].
Abramowicz, MJ ;
Duprez, L ;
Parma, J ;
Vassart, G ;
Heinrichs, C .
JOURNAL OF CLINICAL INVESTIGATION, 1997, 99 (12) :3018-3024
[2]   Probing the cause of thyroid dysgenesis [J].
Abramowicz, MJ ;
Vassart, G ;
Refetoff, S .
THYROID, 1997, 7 (03) :325-326
[3]  
AVRUSKIN TW, 1982, PEDIATRICS, V69, P495
[4]   CONGENITAL HYPOTHYROIDISM, SPIKY HAIR, AND CLEFT-PALATE [J].
BAMFORTH, JS ;
HUGHES, IA ;
LAZARUS, JH ;
WEAVER, CM ;
HARPER, PS .
JOURNAL OF MEDICAL GENETICS, 1989, 26 (01) :49-51
[5]   SYNDROMIC ASSOCIATION OF CLEFT-PALATE, BILATERAL CHOANAL ATRESIA, CURLY HAIR, AND CONGENITAL HYPOTHYROIDISM [J].
BUNTINCX, IM ;
VANOVERMEIRE, B ;
DESAGER, K ;
VANHAUWAERT, J .
JOURNAL OF MEDICAL GENETICS, 1993, 30 (05) :427-428
[6]  
CASSIO A, 1994, SCREENING, V3, P125
[7]   INCREASED RECALL RATE AT SCREENING FOR CONGENITAL HYPOTHYROIDISM IN BREAST FED INFANTS BORN TO IODINE OVERLOADED MOTHERS [J].
CHANOINE, JP ;
BOULVAIN, M ;
BOURDOUX, P ;
PARDOU, A ;
VANTHI, HV ;
ERMANS, AM ;
DELANGE, F .
ARCHIVES OF DISEASE IN CHILDHOOD, 1988, 63 (10) :1207-1210
[8]  
Chao T, 1997, J PEDIATR ENDOCR MET, V10, P217
[9]   Mutation of the gene encoding human TTF-2 associated with thyroid agenesis, cleft palate and choanal atresia [J].
Clifton-Bligh, RJ ;
Wentworth, JM ;
Heinz, P ;
Crisp, MS ;
John, R ;
Lazarus, JH ;
Ludgate, M ;
Chatterjee, VK .
NATURE GENETICS, 1998, 19 (04) :399-401
[10]  
CONNORS MH, 1986, PEDIATRICS, V78, P287