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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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ey0020.14-8 | Section | ESPEYB20

14.8. Child health, developmental plasticity, and epigenetic programming

Z Hochberg , R Feil , M Constancia , M Fraga , C Junien , JC Carel , P Boileau , Y Le Bouc , CL Deal , K Lillycrop , R Scharfmann , A Sheppard , M Skinner , M Szyf , RA Waterland , DJ Waxman , E Whitelaw , K Ong , K Albertsson-Wikland

In Brief: This manuscript was prepared from presentations given at the ESPE New Inroads for Child Health (NICHe) conference held in May 2009 in Marstrand, Sweden. It reviewed the concept of plasticity in developmental programming and evidence for the role of epigenetic mechanisms. It became widely accepted as a leading reference on this topic with currently >750 citations in Google Scholar.Comment: Zeev Hochberg had a brilliant, creative mind. ...

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ey0015.2-2 | International consensus on Beckwith-Wiedemann Syndrome | ESPEYB15

International consensus on Beckwith-Wiedemann Syndrome

F Brioude , JM Kalish , A Mussa , AC Foster , J Bliek , GB Ferrero , SE Boonen , T Cole , R Baker , M Bertoletti , G Cocchi , C Coze , M De Pellegrin , K Hussain , A Ibrahim , MD Kilby , M Krajewska-Walasek , CP Kratz , EJ Ladusans , P Lapunzina , Y Le Bouc , SM Maas , F Macdonald , K Õunap , L Peruzzi , S Rossignol , S Russo , C Shipster , A Skórka , Tatton-Brown , J Tenorio , C Tortora , K Grønskov , I Netchine , RC Hennekam , D Prawitt , Z Tümer , T Eggermann , DJG Mackay , A Riccio , ER Maher

To read the full abstract: Nat Rev Endocrinol. 2018 Apr;14(4):229-249Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplas...

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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

14.8. Child health, developmental plasticity, and epigenetic programming

International consensus on Beckwith-Wiedemann Syndrome

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