Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiency
© 2024 Walter de Gruyter GmbH, Berlin/Boston..
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:37 |
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| Enthalten in: |
Journal of pediatric endocrinology & metabolism : JPEM - 37(2024), 4 vom: 25. Apr., Seite 371-374 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Sriram, Swetha [VerfasserIn] |
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| Links: |
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| Themen: |
Allan–Herndon–Dudley syndrome |
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| Anmerkungen: |
Date Completed 11.04.2024 Date Revised 13.04.2024 published: Electronic-Print Citation Status MEDLINE |
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| doi: |
10.1515/jpem-2023-0070 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM368360334 |
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| 245 | 1 | 0 | |a Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiency |
| 264 | 1 | |c 2024 | |
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| 500 | |a Date Revised 13.04.2024 | ||
| 500 | |a published: Electronic-Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2024 Walter de Gruyter GmbH, Berlin/Boston. | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Case Reports | |
| 650 | 4 | |a Allan–Herndon–Dudley syndrome | |
| 650 | 4 | |a MCT8 deficiency | |
| 650 | 4 | |a SLC16A2 gene | |
| 650 | 4 | |a X chromosome translocation | |
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