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CASE REPORT |
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Year : 2021 | Volume
: 67
| Issue : 4 | Page : 238-240 |
Transient congenital hypothyroidism – too short to be transient
K Subramaniam
Department of Endocrinology, Silverline Hospital, Kochi, Kerala, India
Correspondence Address:
K Subramaniam Department of Endocrinology, Silverline Hospital, Kochi, Kerala India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/jpgm.JPGM_1308_20
Congenital hypothyroidism (CH) occurs due to thyroid dysgenesis, thyroid ectopy, and dyshormonogenesis. A proportion of CH is transient which might be due to iodine deficiency/excess or maternal antibody-mediated. Certain forms of dyshormonogenetic defects may cause transient hypothyroidism. Here is a report of a neonate with overt clinical and biochemical hypothyroidism, who on evaluation was found to have dyshormonogenesis with a homozygous mutation in dual oxidase 2 (DUOX2) gene. During infancy, she became euthyroid. Severe in utero deficiency of thyroid hormone, very short duration of hypothyroidism and first-reported mutation of the DUOX2 gene in the Indian subcontinent were interesting features in this infant.
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