New Hope

6.8. A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair

H Agnani , G Bachelot , T Eguether , B Ribault , J Fiet , Y Le Bouc , I Netchine , M Houang , A Lamaziere

Brief summary: Steroid analysis using LC-MS/MS in association with clinical parameters may be used to develop a diagnostic score that could successfully differentiate premature pubarche (PP) from non-classic congenital adrenal hyperplasia (NCCAH), thereby obviating the need for ACTH stimulation testing.Late onset, non-classic congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency (21-OHD) should be ruled out in children with premature pu...

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ESPE Yearbook of Paediatric Endocrinology

Yearbook of Paediatric Endocrinology 2023

6. Adrenals

6.8. A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair

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