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ea0063oc7.4 | Endocrine Connections 1 | ECE2019

Non-invasive detection of GNAS mutations causing McCune-Albright Syndrome with ddPCR on whole blood or circulating DNA

Romanet Pauline , Philibert Pascal , Fina Frederic , Cuny Thomas , Reynaud Rachel , Paris Francoise , Barlier Anne

Context: Postzygotic activating mutations in GNAS are responsive for fibrous dysplasia (FD) and McCune-Albright Syndrome (MAS). MAS is a rare disease associating fibrous dysplasia, to skin pigmentation and endocrine disorders. The classic genetic non-invasive methods are insufficiently sensitive to detect GNAS mutation, due to a low level of mosaicism in blood. Early diagnostic should allow a follow-up and a therapeutic choice adapted to the MAS context in or...

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ea0013oc16 | Young Endocrinologist prize session | SFEBES2007

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) cause 46,XY disorders of sex development with normal adrenal function

Lin Lin , Philibert Pascal , Ferraz-de-Souza Bruno , Kelberman Daniel , Homfray Tessa , Albanese Assunta , Molini Veruska , Sebire Neil , Einaudi Silvia , Jameson Larry , Sultan Charles , Dattani Mehul , Achermann John

The nuclear receptor steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a key regulator of adrenal and gonadal development, steroidogenesis and reproduction, and targeted deletion of Nr5a1 (Sf1) in the mouse results in adrenal and gonadal agenesis, XY sex-reversal and persistent Müllerian structures in males. Consistent with this phenotype, DNA-binding mutations in SF1 have been reported in two 46,XY female patients with primary adrenal failure and uterine s...

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Endocrine Abstracts

Non-invasive detection of GNAS mutations causing McCune-Albright Syndrome with ddPCR on whole blood or circulating DNA

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) cause 46,XY disorders of sex development with normal adrenal function

BiosciAbstracts