Late diagnosis of the X-linked MCT8 deficiency (Allan–Herndon–Dudley syndrome) in a teenage girl with primary ovarian insufficiency-Reference-Cited by-同舟云学术

Late diagnosis of the X-linked MCT8 deficiency (Allan–Herndon–Dudley syndrome) in a teenage girl with primary ovarian insufficiency

Published:2024-02-13 Issue:4 Volume:37 Page:371-374
ISSN:0334-018X
Container-title:Journal of Pediatric Endocrinology and Metabolism
language:en
Short-container-title:

Author:

Sriram Swetha¹,Shahid Nabiha¹,Mysliwiec D Diana¹,Lichter-Konecki Uta²,Yatsenko Svetlana A.³⁴,Garibaldi Luigi R.¹

Affiliation:

1. Division of Pediatric Endocrinology , UPMC Children’s Hospital of Pittsburgh, University of Pittsburgh , Pittsburgh , PA , USA

2. Division of Genetics and Inborn Errors of Metabolism , UPMC Children’s Hospital of Pittsburgh, University of Pittsburgh , Pittsburgh , PA , USA

3. Department of Pathology , University of Pittsburgh , Pittsburgh , PA , USA

4. Department of Obstetrics, Gynecology and Reproductive Sciences , University of Pittsburgh , Pittsburgh , PA , USA

Abstract

Abstract Objectives To report an unusual case of MCT8 deficiency (Allan–Herndon–Dudley syndrome), an X-linked condition caused by pathogenic variants in the SLC16A2 gene. Defective transport of thyroid hormones (THs) in this condition leads to severe neurodevelopmental impairment in males, while heterozygous females are usually asymptomatic or have mild TH abnormalities. Case presentation A girl with profound developmental delay, epilepsy, primary amenorrhea, elevated T3, low T4 and free T4 levels was diagnosed with MCT8-deficiency at age 17 years, during evaluation for primary ovarian insufficiency (POI). Cytogenetic analysis demonstrated balanced t(X;16)(q13.2;q12.1) translocation with a breakpoint disrupting SLC16A2. X-chromosome inactivation studies revealed a skewed inactivation of the normal X chromosome. Conclusions MCT8-deficiency can manifest clinically and phenotypically in women with SLC16A2 aberrations when nonrandom X inactivation occurs, while lack of X chromosome integrity due to translocation can cause POI.

Publisher

Walter de Gruyter GmbH

Link

https://www.degruyter.com/document/doi/10.1515/jpem-2023-0070/pdf

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