Congenital hypothyroidism due to maternal intake of antithyroid drugs

Congenital hypothyroidism due to maternal intake of antithyroid drugs is a rare congenital hypothyroidism disorder characterized by transient, primary, fetal or neonatal hypothyroidism resulting from transplacental transfer of antithyroid drugs due to maternal intake. Patients may present fetal or neonatal goiter, hoarse cry, reduced tendon reflexes, feeding difficulty, constipation, prolonged jaundice and/or respiratory distress. Elevated levels of T4 and thyroid stimulating hormone usually normalize without treatment within 3 weeks of birth.



Input patient's signs and symptoms


Narrow down the case reports



Total: 0 (papers)
  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 29

HPO ID Term Frequency
HP:0000832 Primary hypothyroidism Obligate (100%)
HP:0000851 Congenital hypothyroidism Obligate (100%)
HP:0002360 Sleep disturbance Very frequent (99-80%)
HP:0003270 Abdominal distention Very frequent (99-80%)
HP:0000135 Hypogonadism Frequent (79-30%)
HP:0000158 Macroglossia Frequent (79-30%)
HP:0000239 Large fontanelles Frequent (79-30%)
HP:0001254 Lethargy Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0001315 Reduced tendon reflexes Frequent (79-30%)
HP:0001615 Hoarse cry Frequent (79-30%)
HP:0002019 Constipation Frequent (79-30%)
HP:0002663 Delayed epiphyseal ossification Frequent (79-30%)
HP:0006579 Prolonged neonatal jaundice Frequent (79-30%)
HP:0008872 Feeding difficulties in infancy Frequent (79-30%)
HP:0100540 Palpebral edema Frequent (79-30%)
HP:0000256 Macrocephaly Occasional (29-5%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000853 Goiter Occasional (29-5%)
HP:0000958 Dry skin Occasional (29-5%)
HP:0000969 Edema Occasional (29-5%)
HP:0001290 Generalized hypotonia Occasional (29-5%)
HP:0001537 Umbilical hernia Occasional (29-5%)
HP:0001697 Abnormal pericardium morphology Occasional (29-5%)
HP:0002045 Hypothermia Occasional (29-5%)
HP:0002615 Hypotension Occasional (29-5%)
HP:0005214 Intestinal obstruction Occasional (29-5%)
HP:0005930 Abnormality of epiphysis morphology Occasional (29-5%)
HP:0045017 Congenital malformation of the left heart Excluded (0%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID