Abstract Search

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...

0 shares

ey0020.1-8 | Genetics | ESPEYB20

1.8. The severity of congenital hypothyroidism with gland-in-situ predicts molecular yield by targeted NGS

L Levaillant , N Bouhours-Nouet , F Illouz , JA Jager , A Bachelot , P Barat , S Baron , C Bensignor , AB De La Perriere , YB Djellas , M Caillot , E Caldagues , MN Campas , M Caquard , A Cartault , J Cheignon , A Decrequy , B Delemer , K Dieckmann , A Donzeau , E Doye , M Fradin , M Gaudilliere , F Gatelais , M Gorce , I Hazart , N Houcinat , L Houdon , M Ister-Salome , L Jozwiak , P Jeannoel , F Labarthe , D Lacombe , AS Lambert , C Lefevre , B Leheup , C Leroy , B Maisonneuve , I Marchand , E Marquant , M Muszlak , L Pantalone , S Pochelu , C Quelin , C Radet , P Renoult-Pierre , R Reynaud , S Rouleau , C Teinturier , J Thevenon , C Turlotte , A Valle , M Vierge , C Villanueva , A Ziegler , X Dieu , N Bouzamondo , P Rodien , D Prunier-Mirebeau , R Coutant

Brief summary: Over the recent years several publications reported on next generation sequencing (NGS) in cohorts of patients with congenital hypothyroidism (1). Based on these data, diagnostic yield was higher in patients with gland-in-situ, than with thyroid dysgenesis. Further studies performed NGS only in cohorts of patients with gland-in-situ, excluding thyroid dysgenesis forms such as athyreosis, ectopy, or hypoplasia (2). The publication of Levaillant ...

0 shares

ESPE Yearbook of Paediatric Endocrinology

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

1.8. The severity of congenital hypothyroidism with gland-in-situ predicts molecular yield by targeted NGS

BiosciAbstracts