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Familial gestational hyperthyroidism

MedGen UID:
355106
•Concept ID:
C1863959
•
Disease or Syndrome
Synonym: Hyperthyroidism, Familial Gestational
SNOMED CT: Familial gestational hyperthyroidism (703309000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): TSHR (14q31.1)
 
Monarch Initiative: MONDO:0011309
OMIM®: 603373
Orphanet: ORPHA99819

Definition

Some degree of stimulation of the thyroid gland by chorionic gonadotropin (see 118860) is common during early pregnancy. When serum chorionic gonadotropin concentrations are abnormally high, e.g., in women with molar pregnancies (231090), overt hyperthyroidism may ensue. The pathophysiologic mechanism appears to be promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin. The explanation for this stimulation is the close structural relations between chorionic gonadotropin and thyrotropin and between their receptors (Grossmann et al., 1997). [from OMIM]

Clinical features

From HPO
Tachycardia
MedGen UID:
21453
•Concept ID:
C0039231
•
Finding
A rapid heartrate that exceeds the range of the normal resting heartrate for age.
See: Feature record | Search on this feature
Hyperthyroidism
MedGen UID:
6972
•Concept ID:
C0020550
•
Disease or Syndrome
An abnormality of thyroid physiology characterized by excessive secretion of the thyroid hormones thyroxine (i.e., T4) and/or 3,3',5-triiodo-L-thyronine zwitterion (i.e., triiodothyronine or T3).
See: Feature record | Search on this feature
Decreased thyroid-stimulating hormone level
MedGen UID:
717708
•Concept ID:
C1295607
•
Finding
Reduced amount of the thyroid-stimulating hormone (TSH), which is produced by the anterior pituitary gland and stimulates the function of the thyroid gland.
See: Feature record | Search on this feature
Increased circulating T4 concentration
MedGen UID:
1619052
•Concept ID:
C4531079
•
Finding
An elevation above the normal concentration of thyroxine in the blood. Thyroxine (also known as T4) is the main hormone secreted by the thyroid gland into the blood. It can be converted into the active form triiodothyronine (also known as T3).
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Graves' disease in children.
Léger J, Oliver I, Rodrigue D, Lambert AS, Coutant R
Ann Endocrinol (Paris) 2018 Dec;79(6):647-655. Epub 2018 Aug 16 doi: 10.1016/j.ando.2018.08.001. PMID: 30180972
Management of Neonates Born to Mothers With Graves' Disease.
van der Kaay DC, Wasserman JD, Palmert MR
Pediatrics 2016 Apr;137(4) Epub 2016 Mar 15 doi: 10.1542/peds.2015-1878. PMID: 26980880
Hyperthyroidism: diagnosis and management of Graves' disease.
Schilling JS
Nurse Pract 1997 Jun;22(6):72, 75, 78 passim; quiz 96-7. PMID: 9211454

Recent clinical studies

Diagnosis

New variant (Val597Ile) in transmembrane region of the TSH receptor with human chorionic gonadotropin hypersensitivity in familial gestational hyperthyroidism.
Caron P, Broussaud S, Galano-Frutos JJ, Sancho J, Savagner F
Clin Endocrinol (Oxf) 2020 Sep;93(3):339-345. Epub 2020 Jun 16 doi: 10.1111/cen.14215. PMID: 32437589

Supplemental Content

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      Clinical tests in GTR
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      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
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