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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/14:10292787

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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)

Název v anglickém jazyce

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

Popis výsledku anglicky

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)

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FB - Endokrinologie, diabetologie, metabolismus, výživa

OECD FORD obor

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Projekt

<a href="/cs/project/NT13692" target="_blank" >NT13692: Genetické příčiny hypopituitarismu: průkaz původu prevalentních mutací v genu PROP1 a studium raritních genů</a><br>

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2014

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Clinical Endocrinology and Metabolism

ISSN

0021-972X

e-ISSN

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Svazek periodika

99

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

8

Strana od-do

299-306

Kód UT WoS článku

000333402200067

EID výsledku v databázi Scopus

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