High Prevalence of PROP1 Defects in Lithuania: Phenotypic Findings in an Ethnically Homogenous Cohort of Patients With Multiple Pituitary Hormone Deficiency

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F14%3A10292787" target="_blank" >RIV/00064203:_____/14:10292787 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/14:10292787
Result on the web
<a href="http://dx.doi.org/10.1210/jc.2013-3090" target="_blank" >http://dx.doi.org/10.1210/jc.2013-3090</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1210/jc.2013-3090" target="_blank" >10.1210/jc.2013-3090</a>

Result language
angličtina
Original language name
High Prevalence of PROP1 Defects in Lithuania: Phenotypic Findings in an Ethnically Homogenous Cohort of Patients With Multiple Pituitary Hormone Deficiency
Original language description
Context: PROP1 gene mutations cause multiple pituitary hormone deficiency (MPHD). Objective: We sought to expand experience with PROP1 mutation carriers by studying a large cohort of Lithuanian patients. Patients and Methods: Sixty-seven MPHD patients were tested for PROP1 defects. Perinatal and postnatal data were obtained from medical records. Hormonal investigations, pituitary imaging, and GH therapy were provided in a single center in Kaunas, Lithuania. Results: A biallelic PROP1 gene mutation was found in 47 subjects (70.1%), of which 46 were homozygous for 296delGA. Positive finding rate among MPHD and population prevalence of PROP1 defects in Lithuania (15.8 per million) were the highest reported to date. Patients' birth lengths/weights were normal. Testicular retention was noted in 31% of boys. Median height SD scores declined over years 1-5: -1.56, -2.34, -3.43, -3.52, and -3.70. Mid-parental height predicted severity of growth retardation at diagnosis (r(2) = 0.30; P = .0001)
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FB - Endocrinology, diabetology, metabolism, nutrition
OECD FORD branch
—

Project
<a href="/en/project/NT13692" target="_blank" >NT13692: Genetic causes of hypopituitarism: search for ancestral origin of two most prevalent mutations in the PROP1 gene and study of rare genes</a><br>
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year
2014
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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