ORPHA:226313

Congenital hypothyroidism due to maternal intake of antithyroid drugs

Type: Disease
Group: Disorder
Age of onset: Infancy, Neonatal
Status: active

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.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Congenital hypothyroidism due to maternal intake of antithyroid drugs
fr	Hypothyroïdie congénitale due à une exposition maternelle aux médicaments antithyroïdiens
de	Hypothyreose, kongenitale, durch mütterliche Einnahme von Thyreostatica
es	Hipotiroidismo congénito por la ingesta materna de fármacos antitiroideos	Hipotiroidismo congénito por la ingesta materna de medicamentos antitiroideos
it	Ipotiroidismo congenito da assunzione materna di farmaci antitiroidei
nl	Congenitale hypothyreoïdie als gevolg van maternale inname van antischildkliergeneesmiddelen
pt	Hipotiroidismo congénito por ingestão materna de fármacos antitiroideus
pl	Wrodzona niedoczynność tarczycy z powodu przyjmowania przez matkę leków przeciwtarczycowych
cs	Vrozená hypotyreóza způsobená matčiným užíváním antityreoidálních léků
uk	Вроджений гіпотиреоз, спричинений прийомом антитиреоїдних препаратів матірю
zh	母亲服用抗甲状腺药物所致先天性甲状腺功能减退症
tr	Maternal antitiroid ilaç alımına bağlı doğumsal hipotiroidi

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	P72.2	NTBT	attributed	validated
ICD-11	5A00.03	NTBT	index	validated
MONDO	0016413	E		validated
UMLS	C5190849	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97978Rare endocrine disease

Parents in the classifications (1):

ORPHA:238696Transient congenital hypothyroidism due to maternal factor
rare endocrine diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

26 annotations · validated 2021-05-25

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0003270	Abdominal distention
HP:0000851	Congenital hypothyroidism
HP:0031507	Decreased circulating thyroxine level
HP:0002925	Elevated circulating thyroid-stimulating hormone concentration
HP:0000853	Goiter
Frequent (79-30%)
HP:0005930	Abnormality of epiphysis morphology
HP:0008820	Absent ossification of capital femoral epiphysis
HP:0002019	Constipation
HP:0002663	Delayed epiphyseal ossification
HP:0005280	Depressed nasal bridge
HP:0008872	Feeding difficulties in infancy
HP:0100786	Hypersomnia
HP:0001265	Hyporeflexia
HP:0002045	Hypothermia
HP:0001520	Large for gestational age
HP:0000158	Macroglossia
HP:0500011	Moon facies
HP:0001070	Mottled pigmentation
HP:0001319	Neonatal hypotonia
HP:0006579	Prolonged neonatal jaundice
HP:0001538	Protuberant abdomen
HP:0001537	Umbilical hernia
Occasional (29-5%)
HP:0001662	Bradycardia
HP:0000958	Dry skin
HP:0004491	Large posterior fontanelle
HP:0002098	Respiratory distress

Run the differential on the 5 obligate / very frequent terms

Annotation source: 5261[PMID]_31049292[PMID]_20537182[PMID]_32607131[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/226313
This record as JSON: /data/d/226313.json