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Study · Case report or series · n = 1 · 2019

1 result

Precocious puberty and Chiari I malformation with syrinx: a case report of an unusual presentation of Costello syndrome.

Schwartz NS, Regelmann MO

International journal of pediatric endocrinology22 Oct 2019

PMID31649741 (opens in a new tab)PMCIDPMC6805387 (opens in a new tab)DOI10.1186/s13633-019-0067-8 (opens in a new tab)PepBankPUB-31649741
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Summary

BackgroundCostello syndrome (CS) is a rare RASopathy causing developmental delays, short stature and classically, delayed puberty. We present a patient with CS and central precocious puberty (CPP).Case presentationA female patient with CS presented at 6 years 10 months of age with breast development. CPP was biochemically confirmed at 7 years 1 month of age, no additional pituitary dysfunction was noted and puberty progressed at follow-up. Brain magnetic resonance imaging (MRI) revealed a Chiari I malformation with a syrinx, requiring surgical decompression. The patient was successfully treated with histrelin.ConclusionsAlthough recent publications do not recommend routine brain MRI in girls with isolated CPP over 6 years of age, in those with CS actionable MRI findings are more likely and imaging should be performed. It is unclear whether the cerebral malformation in the patient contributed to CPP or was an incidental syndromic finding.
CC BYText from Europe PMC. Highlighted sentences are the source of results.

Results from this study1

1 result from studies that gave the peptide. 1 result from people.

  1. 01HumanCase report or seriesEfficacy outcome

    In a girl with Costello syndrome and central precocious puberty, histrelin treatment was successful.

    In plain wordsIn a girl with Costello syndrome, histrelin successfully treated central precocious puberty.

    Peptide
    Histrelin
    Outcome
    Not applicableCentral precocious puberty treatment success
    Study

    n = 1

    Outcome group
    Sex hormones and fertility · Reproductive and sexual health
    Studied dose
    Dose not stated

    Source sentences

    Summary
    The patient was successfully treated with histrelin.
    2 context sentences
    Summary · context
    We present a patient with CS and central precocious puberty (CPP).
    Summary · context
    A female patient with CS presented at 6 years 10 months of age with breast development.

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Version history

PepBank keeps every version of the data on this study. Status changes from Retraction Watch, Europe PMC and Crossref are listed with their source.

  1. Version 2Current

    28 Oct 2026, 02:03 UTC

    Study results updated

  2. Version 1

    27 Oct 2026, 16:35 UTC

    First added · source update from Europe PMC

Subjects

Terms as the source lists them.

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