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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.
 
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.
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).
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.
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).

Professional guidelines

PubMed

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
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
Mathieu I, Caussin J, Smeesters P, Wambersie A, Beckers C
Lancet 1997 Oct 11;350(9084):1074-5. doi: 10.1016/S0140-6736(05)70454-2. PMID: 10213553

Recent clinical studies

Diagnosis

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

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