Case Report

Two sisters with homozygous deletion mutation in the PROP-1 gene

Volume: 59 Number: 4 December 30, 2020
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Two sisters with homozygous deletion mutation in the PROP-1 gene

Abstract

Defects in the PROP-1 gene produce clinical findings by affecting somatotrophs, thyrotrophs, lactotrophs, gonadotrophs and corticotrophs. The first finding in cases with PROP-1 gene mutation is growth retardation associated with growth hormone (GH) deficiency and central hypothyroidism. Other hormone deficiencies are added over time. We describe two sisters with deletion mutation in the PROP-1 gene. The parents were first-degree cousins. The female patient identified as the index case was 4.6 and the other sister was 1.9 years old when they presented with failure to thrive and short stature. Central hypothyroidism and GH deficiency was determined in both sisters. Homozygous deletion mutation was determined in the PROP-1 gene at genetic analysis. PROP-1 mutation should be considered in patients presenting with combined GH deficiency and central hypothyroidism, and the diagnosis must be confirmed with genetic analysis.

Keywords

References

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Details

Primary Language

English

Subjects

Health Care Administration

Journal Section

Case Report

Authors

Özden Öztürk
0000-0001-8558-7901
Türkiye

Publication Date

December 30, 2020

Submission Date

May 7, 2020

Acceptance Date

September 28, 2020

Published in Issue

Year 2020 Volume: 59 Number: 4

DOI

https://doi.org/10.19161/etd.834342

IZ

https://izlik.org/JA59SH26JY

Cite

RIS / Bibtex
Vancouver
1.Semih Bolu, Abdulvahit Aşık, Özden Öztürk. Two sisters with homozygous deletion mutation in the PROP-1 gene. EJM. 2020 Dec. 1;59(4):316-9. doi:10.19161/etd.834342

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