McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F15%3A10316067" target="_blank" >RIV/00216208:11130/15:10316067 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/15:10316067

Result on the web

<a href="http://dx.doi.org/10.14310/horm.2002.1578" target="_blank" >http://dx.doi.org/10.14310/horm.2002.1578</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.14310/horm.2002.1578" target="_blank" >10.14310/horm.2002.1578</a>

Result language

angličtina

Original language name

McCune Albright syndrome and bilateral adrenal hyperplasia: the GNAS mutation may only be present in adrenal tissue

Original language description

OBJECTIVE: Corticotropin (ACTH)-independent hypercortisolism due to bilateral adrenocortical hyperplasia (BAH) in infancy is an extremely rare condition that is often caused by McCune Albright syndrome (MAS). MAS is caused by an activating mutation of the GNAS gene which leads to increased cyclic (c) adenosine monophosphate (AMP) signaling. Most forms of BAH are linked to increased cAMP signaling. We report the case of an infant with MAS who had BAH. METHODS: Genomic DNA fragments from blood and adrenaltissue encompassing regions (exons 8 and 9) with the hot spot activating missense GNAS mutations were amplified by classical bidirectional Sanger sequencing. RESULTS: The infant was found to carry the most common GNAS mutation, in exon 8 (c.602G>A, p. R201H), only in her adrenocortical tissue, despite extensive skin and other findings. CONCLUSIONS: We conclude that infants with MAS, despite absence of the GNAS activating mutation in blood, may still have significant clinical findings, i

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FG - Paediatrics

OECD FORD branch

—

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2015

Confidentiality

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

Name of the periodical

Hormones (Athens, Greece)

ISSN

1109-3099

e-ISSN

—

Volume of the periodical

14

Issue of the periodical within the volume

3

Country of publishing house

GR - GREECE

Number of pages

4

Pages from-to

447-450

UT code for WoS article

000365092400015

EID of the result in the Scopus database

2-s2.0-84938526096