Evidence map›Paper›PMID 39985157›Full record

ArticleActa paediatrica (Oslo, Norway : 1992)2025

Endocrine Abnormalities and Growth Pattern in Single Large-Scale Mitochondrial DNA Deletion Syndromes.

Ayman Daka, Einat Lahav, Omer Bar Yosef, Yoav Bolkier, Yael Levy-Shraga, Yair Anikster, Elad Jacoby, Noah Gruber

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Article in Acta paediatrica (Oslo, Norway : 1992), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

8 authors.

Ayman DakaPediatric Ward, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel.ORCID 0000-0002-2539-0645
Einat LahavFaculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.
Omer Bar YosefFaculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.
Yoav BolkierFaculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.
Yael Levy-ShragaFaculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.ORCID 0000-0002-8603-4230
Yair AniksterFaculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.
Elad JacobyFaculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv, Israel.
Noah GruberPediatric Ward, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel.ORCID 0000-0002-2474-3250

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo assess the prevalence of endocrine disorders and investigate growth patterns in single large-scale mitochondrial DNA deletion syndromes (SLSMDs).

methodsA retrospective study of all children with SLSMD who attended Sheba Medical Center, Israel, from February 2017 to September 2024.

resultsThe cohort included 18 individuals (9 males). The mean age at diagnosis was 4 ± 3.8 years and the mean age at analysis was 12 ± 5.2 years. All patients exhibited at least one endocrine disorder within 5 years post-diagnosis. The most common were short stature (94%), hypoparathyroidism (83%), diabetes (33%), and delayed puberty (30%). A median of seven height measurements per individual produced 159 data points, which enabled generating unique growth charts. The mean puberty height-SDS was significantly lower than that of the general population (-3.71 ± 1.17, p < 0.001). The mean Childhood and puberty height-SDS were significantly reduced compared to the preschool period (-2.13 ± 1.13 vs. -3.35 ± 1.04, p = 0.01; -2.06 ± 1.03 vs. -3.71 ± 1.17, p = 0.007). The mean delta in height-SDS from their parents and the mean insulin-like growth factor 1-SDS were lower than in the general population (2.36 ± 1.28, p = 0.0001 and - 1.53 ± 0.98, p < 0.0001, respectively).

conclusionAll patients with SLSMD presented with endocrine disorders. Growth during childhood and adolescence was slower. Patients with SLSMD are predisposed to endocrine complications and should undergo timely and routine evaluations.

Indexed as

DNA, MitochondrialEndocrine System DiseasesMitochondrial DiseasesAdolescentChildChild, PreschoolFemaleHumansIsraelMaleRetrospective StudiesDNA, Mitochondrialendocrine abnormalitiesgrowth chartsIGF1routine screeningshort statureSLSMDs

Identifiers

PMID39985157
PMCPMC12258127

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