Clinical trial NCT03612908: TSHβX1 and D2 THR92ALA in Pregnancy
Official title: TSHβX1 Splice Variant Expression and D2 Thr92Ala Polymorphism Analysis in Pregnant Women With Thyroid Diseases
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Pregnancy Related
Hypothyroidism
Hyperthyroidism
Keywords: Hyperthyroidism
Polymorphism
TSHβX1
D2 THR92ALA
Hypothyroidism
Lead sponsor: Materno-Perinatal Hospital of the State of Mexico
Sponsor class: OTHER
Collaborators: name: Universidad Autonoma del Estado de Mexico
name: Ciprés Grupo Médico CGM SC
First posted: 2018-08-02
Enrollment: 96
Sex: FEMALE
Minimum age (years): 18
Maximum age (years): 44
Standard ages: ADULT
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Pregnant women attended at the "Mónica Pretelini Sáenz" Maternal-Perinatal Hospital are mainly of low socioeconomical status.

Brief summary: Thyroid diseases are pathologies that frequently affect pregnant women causing serious complications. This current research aims to find out whether the expression of TSHβX1 splice variant and D2 Thr92Ala polymorphism in the DIO2 gene are associated with thyroid disease in Mexican pregnant women.

Detailed description: Deiodinase 2 (DIO2) is a selenoenzyme responsible for the deiodination of T4 to T3, which makes it crucial for the proper functioning of thyroid hormones. Polymorphisms of DIO2 alters the enzymatic function. In addition, the Ala92Ala genotype was reported to be related with a reduction in the placental activity of D2, which could worsen gestational complications.

In the other hand, the TSHβ gene (NC_000001.11) located on chromosome 1 at position 38p12, codes for the beta unit of the thyroid stimulating hormone (TSH). It is admitted that genetic variants can show a different spectrum of actions.

This was a clinical, comparative, prospective and transversal study. Pregnant women aged 18-44 years old, were invited to identify it they had a DIO2 polymorphism or the TSHβX1 splice variant.

Eligibility criteria: Inclusion Criteria:

* Pregnant women attended at the "Mónica Pretelini Sáenz" Maternal-Perinatal Hospital (HMPMPS), Health Institute of the State of Mexico (ISEM), Toluca, Mexico.

Exclusion Criteria:

* Patients with chronic diseases other than hyper or hypothyroidism.
* Patients that required attention in the obstetric intensive care unit.

Primary outcomes:
measure: TSHβX1 splice variant expression.
timeFrame: Baseline.
Secondary outcomes:
measure: D2 Thr92Ala polymorphism.
timeFrame: Baseline.
Other outcomes:
Locations:
city: Toluca
country: Mexico
facility: Materno-Perinatal Hospital "Mónica Pretelini"
Study officials:
affiliation: Hospital Materno-Perinatal "Mónica Pretelini Sáenz".
name: Mendieta Zerón
role: PRINCIPAL_INVESTIGATOR
References:
citation: Wouters HJ, van Loon HC, van der Klauw MM, Elderson MF, Slagter SN, Kobold AM, Kema IP, Links TP, van Vliet-Ostaptchouk JV, Wolffenbuttel BH. No Effect of the Thr92Ala Polymorphism of Deiodinase-2 on Thyroid Hormone Parameters, Health-Related Quality of Life, and Cognitive Functioning in a Large Population-Based Cohort Study. Thyroid. 2017 Feb;27(2):147-155. doi: 10.1089/thy.2016.0199. Epub 2016 Dec 15.
citation: Leung AM. Thyroid function in pregnancy. J Trace Elem Med Biol. 2012 Jun;26(2-3):137-40. doi: 10.1016/j.jtemb.2012.03.004. Epub 2012 Jun 2.