Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

730
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
730
Multiple Comparison Tests01:13

Multiple Comparison Tests

4.4K
Multiple comparison test, abbreviated as MCT, is a post hoc analysis generally performed after comparing multiple samples with one or more tests. An MCT will help identify a significantly different sample among multiple samples or a factor among multiple factors.
It would be easy to compare two samples using a significance alpha level of 0.05. In other words, there is only one sample pair to be compared. However, it would be difficult to identify a significantly different sample if the number...
4.4K
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

7.8K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
7.8K
X-linked Traits01:19

X-linked Traits

58.2K
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
58.2K
X-Inactivation01:58

X-Inactivation

41.6K
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
41.6K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

699
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
699

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

GIT1 loss of function causes a recognizable syndromic neurodevelopmental disorder.

Brain : a journal of neurology·2026
Same author

Reduced thyroid hormone transport in a human placental model with inhibited MCT8.

European thyroid journal·2026
Same author

Compound Heterozygous <i>COA7</i> Variants Presenting With Childhood-Onset Axonal Neuropathy in 2 Siblings.

Neurology. Genetics·2026
Same author

Biallelic MCUR1 nonsense mutation associated with vacuolar myopathy and altered mitochondrial calcium signaling.

Acta neuropathologica communications·2026
Same author

Whole population cohorts vs sampled comparators designs for evaluating health and educational outcomes of children with inborn rare conditions: a simulation study.

Journal of clinical epidemiology·2026
Same author

Retrospective, multicentre evaluation of central congenital hypothyroidism in the UK.

European thyroid journal·2026
Same journal

Continuous glucose monitoring-derived time in range is associated with changes in arterial stiffness in type 2 diabetes.

The Journal of clinical endocrinology and metabolism·2026
Same journal

Association of the Primary Aldosteronism Severity Classification with Lateralization and Treatment Outcomes.

The Journal of clinical endocrinology and metabolism·2026
Same journal

From Premature Adrenarche to Adult Metabolic Risk and Hyperandrogenism: A Systematic Review and Meta-Analysis.

The Journal of clinical endocrinology and metabolism·2026
Same journal

Open-Label 9-Year Follow-Up Extension Phase 2 Study of Once-Weekly Somatrogon in Children With Growth Hormone Deficiency.

The Journal of clinical endocrinology and metabolism·2026
Same journal

Correction to: "CAHQL: A Patient-Reported Outcome Instrument to Assess Health-Related Quality of Life in Congenital Adrenal Hyperplasia".

The Journal of clinical endocrinology and metabolism·2026
Same journal

Approach to Personalizing the Treatment of Osteoporosis.

The Journal of clinical endocrinology and metabolism·2026
See all related articles

Related Experiment Video

Updated: Jan 18, 2026

Analyzing the Functions of Mast Cells In Vivo Using 'Mast Cell Knock-in' Mice
09:07

Analyzing the Functions of Mast Cells In Vivo Using 'Mast Cell Knock-in' Mice

Published on: May 27, 2015

11.0K

MCT8 Deficiency in Females.

Stefan Groeneweg1, Ferdy S van Geest1, Floor van der Most1

  • 1Academic Center for Thyroid Diseases, Department of Internal Medicine, Erasmus Medical Center, Erasmus University Rotterdam, 3015 GD Rotterdam, the Netherlands.

The Journal of Clinical Endocrinology and Metabolism
|May 27, 2025
PubMed
Summary
This summary is machine-generated.

Heterozygous pathogenic variants in SLC16A2 can cause neurocognitive and thyroid issues in females with MCT8 deficiency. Skewed X-chromosome inactivation is key in these presentations.

Keywords:
MCT8monocarboxylate transporter 8neurocognitive impairmentskewed X-chromosome inactivationthyroid hormonethyroid hormone transport

More Related Videos

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
28:15

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Published on: July 28, 2010

12.7K
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.7K

Related Experiment Videos

Last Updated: Jan 18, 2026

Analyzing the Functions of Mast Cells In Vivo Using 'Mast Cell Knock-in' Mice
09:07

Analyzing the Functions of Mast Cells In Vivo Using 'Mast Cell Knock-in' Mice

Published on: May 27, 2015

11.0K
Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer
28:15

Deficient Pms2, ERCC1, Ku86, CcOI in Field Defects During Progression to Colon Cancer

Published on: July 28, 2010

12.7K
Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
06:48

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome

Published on: March 23, 2022

2.7K

Area of Science:

  • Genetics and Molecular Biology
  • Endocrinology
  • Neuroscience

Background:

  • Monocarboxylate transporter 8 (MCT8) is crucial for thyroid hormone (TH) transport across the blood-brain barrier.
  • Pathogenic variants in SLC16A2 cause MCT8 deficiency (Allan-Herndon-Dudley syndrome), typically affecting males due to X-linked inheritance.
  • This syndrome is characterized by intellectual disability, motor deficits, and abnormal thyroid function tests.

Purpose of the Study:

  • To investigate the clinical presentation and underlying genetic mechanisms of MCT8 deficiency in female patients.
  • To analyze the impact of heterozygous pathogenic variants in SLC16A2 on TH transport and neurocognitive function in females.
  • To highlight the role of X-chromosome inactivation in the manifestation of symptoms in female carriers.

Main Methods:

  • Genetic analysis to identify heterozygous pathogenic variants in SLC16A2 in female patients.
  • X-chromosome inactivation studies in patient-derived cells.
  • Functional assessment of SLC16A2 variants using transfected cells and patient fibroblasts to evaluate TH transport capacity.

Main Results:

  • Eight female patients with heterozygous pathogenic variants in SLC16A2 were identified, presenting with variable neurocognitive and behavioral issues, and abnormal TH levels.
  • All identified missense variants demonstrated significantly reduced MCT8-mediated TH uptake in functional assays.
  • Skewed X-chromosome inactivation was observed in all evaluated female patients, with impaired TH uptake in fibroblasts mirroring that of male patients.

Conclusions:

  • Female patients with heterozygous pathogenic variants in SLC16A2 and skewed X-chromosome inactivation can exhibit diverse neurodevelopmental, behavioral, and thyroid function abnormalities.
  • Testing for SLC16A2 genetic variants is recommended for female patients presenting with neurocognitive impairment and abnormal thyroid function tests.
  • These findings expand the understanding of MCT8 deficiency and its phenotypic variability in females.