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Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?

Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?
Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?
We report on a full-term male infant with hypoplastic male genitalia and bilateral impalpable testes noted at birth, who over the following months developed increasing hypotonia, apneic episodes, and seizures resulting in his death at age 24 weeks. During this period regression of penile corporeal tissue was observed. An endocrinological diagnosis of primary hypogonadism was made and cerebral imaging at 19 weeks showed reduced periventricular white matter with marked pontocerebellar hypoplasia (PCH)/atrophy, but a well-developed posterior fossa. We propose that this condition constitutes a new form of severe PCH/atrophy with testicular regression that has onset in the fetal period.
1552-4825
667-672
Anderson, Christopher
ba2a83dd-5747-435f-8daf-91f42a5630bc
Davies, Justin H.
9f18fcad-f488-4c72-ac23-c154995443a9
Lamont, Lilias
bb178656-5696-49d5-9d7f-92bc75a7e044
Foulds, Nicola
5e153e9f-caae-45f5-b6f0-943bd567558e
Anderson, Christopher
ba2a83dd-5747-435f-8daf-91f42a5630bc
Davies, Justin H.
9f18fcad-f488-4c72-ac23-c154995443a9
Lamont, Lilias
bb178656-5696-49d5-9d7f-92bc75a7e044
Foulds, Nicola
5e153e9f-caae-45f5-b6f0-943bd567558e

Anderson, Christopher, Davies, Justin H., Lamont, Lilias and Foulds, Nicola (2011) Early pontocerebellar hypoplasia with vanishing testes: A new syndrome? American Journal of Medical Genetics: Part A, 155 (4), 667-672. (doi:10.1002/ajmg.a.33897).

Record type: Article

Abstract

We report on a full-term male infant with hypoplastic male genitalia and bilateral impalpable testes noted at birth, who over the following months developed increasing hypotonia, apneic episodes, and seizures resulting in his death at age 24 weeks. During this period regression of penile corporeal tissue was observed. An endocrinological diagnosis of primary hypogonadism was made and cerebral imaging at 19 weeks showed reduced periventricular white matter with marked pontocerebellar hypoplasia (PCH)/atrophy, but a well-developed posterior fossa. We propose that this condition constitutes a new form of severe PCH/atrophy with testicular regression that has onset in the fetal period.

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Published date: April 2011

Identifiers

Local EPrints ID: 183171
URI: https://eprints.soton.ac.uk/id/eprint/183171
ISSN: 1552-4825
PURE UUID: cae9bb05-89cd-41f1-b60c-7b4b898c318e

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Date deposited: 28 Apr 2011 14:51
Last modified: 16 Jul 2019 23:40

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