Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature Article Swipe
Emma O. Billington
,
Geneviève Bernard
,
William T. Gibson
,
Bernard Corenblum
·
YOU?
·
· 2015
· Open Access
·
· DOI: https://doi.org/10.1155/2015/314594
YOU?
·
· 2015
· Open Access
·
· DOI: https://doi.org/10.1155/2015/314594
Introduction . 4H leukodystrophy is an autosomal recessive RNA polymerase III-related leukodystrophy, characterized by hypomyelination, with or without hypodontia (or other dental abnormalities) and hypogonadotropic hypogonadism. Case Presentation . We describe a 28-year-old female who presented with primary amenorrhea at the age of 19. She had a history of very mild neurological and dental abnormalities. She was found to have hypogonadotropic hypogonadism, and magnetic resonance imaging of the brain showed hypomyelination. The diagnosis of 4H leukodystrophy was made. She was subsequently found to have mutations in the POLR3B gene, which encodes the second largest subunit of RNA polymerase III. She wished to become pregnant and failed to respond to pulsatile GnRH but achieved normal follicular growth and ovulation with subcutaneous gonadotropin therapy. Discussion . Patients with 4H leukodystrophy may initially present with hypogonadotropic hypogonadism, particularly if neurological and dental manifestations are subtle. Making the diagnosis has important implications for prognosis and management. Progressive neurologic deterioration is expected, and progressive endocrine dysfunction may occur. Patients with 4H leukodystrophy should be counseled about disease progression and about this disease’s autosomal recessive inheritance pattern. In those who wish to conceive, ovulation induction may be achieved with subcutaneous gonadotropin therapy, but pulsatile GnRH does not appear to be effective.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1155/2015/314594
- https://downloads.hindawi.com/journals/crie/2015/314594.pdf
- OA Status
- gold
- Cited By
- 14
- References
- 25
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W1592647219
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W1592647219Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1155/2015/314594Digital Object Identifier
- Title
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Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the LiteratureWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2015Year of publication
- Publication date
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2015-01-01Full publication date if available
- Authors
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Emma O. Billington, Geneviève Bernard, William T. Gibson, Bernard CorenblumList of authors in order
- Landing page
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https://doi.org/10.1155/2015/314594Publisher landing page
- PDF URL
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https://downloads.hindawi.com/journals/crie/2015/314594.pdfDirect link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
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goldOpen access status per OpenAlex
- OA URL
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https://downloads.hindawi.com/journals/crie/2015/314594.pdfDirect OA link when available
- Concepts
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Hypogonadotropic hypogonadism, Leukodystrophy, Medicine, Hypodontia, Pediatrics, Endocrinology, Internal medicine, Pathology, Disease, Dentistry, HormoneTop concepts (fields/topics) attached by OpenAlex
- Cited by
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14Total citation count in OpenAlex
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2024: 2, 2023: 1, 2022: 4, 2021: 1, 2020: 1Per-year citation counts (last 5 years)
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25Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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