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Missed congenital hypothyroidism in an identical twin
Author(s) -
Azam Anita,
Cutfield Wayne,
Mouat Fran,
Hofman Paul L,
Jefferies Craig,
Webster Dianne,
Gunn Alistair Jan
Publication year - 2012
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.2012.02554.x
Subject(s) - medicine , congenital hypothyroidism , newborn screening , pediatrics , thyroid , monozygotic twin , identical twins , dried blood , obstetrics , endocrinology , chromatography , biology , genetics , chemistry
Newborn screening for congenital hypothyroidism has been remarkably effective, although rare cases of false negative screening have been reported in same sex twins, presumptively due to fetal blood exchange. We report a case in which the diagnosis of congenital hypothyroidism due to thyroid ectopia in a monozygotic twin was delayed by 8 months, with a normal newborn screening TSH level of 11 mIU/L blood (normal < 15 mIU/L) at 2 days of life. This is the first such case since the national New Zealand newborn screening programme introduced screening for congenital hypothyroidism in 1981 (30 years ago). Repeating thyroid studies at 14 days of age in same‐sex twins has been advocated to avoid delayed diagnosis, but given the low risk, may not be cost effective. It is important to maintain a high index of suspicion in same‐sex twin pregnancies of potential congenital hypothyroidism.