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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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ey0017.4-1 | Important for clinical practice | ESPEYB17

4.1. Diagnosis, genetics, and therapy of short stature in children: A growth hormone research society international perspective

PF Collett-Solberg , G Ambler , PF Backeljauw , M Bidlingmaier , BMK Biller , MCS Boguszewski , PT Cheung , CSY Choong , LE Cohen , P Cohen , A Dauber , CL Deal , C Gong , Y Hasegawa , AR Hoffman , PL Hofman , R Horikawa , AAL Jorge , A Juul , P Kamenicky , V Khadilkar , JJ Kopchick , B Kristrom , MdLA Lopes , X Luo , BS Miller , M Misra , I Netchine , S Radovick , MB Ranke , AD Rogol , RG Rosenfeld , P Saenger , JM Wit , J Woelfle

To read the full abstract: Horm Res Paediatr. 2019;92:114In March 2019, 46 international experts from 14 countries across 5 continents attended a 3-day workshop organized by the Growth Hormone Research Society (GRS) and produced this perspective on the diagnosis, management and therapy in children with short stature. In this context, this expert panel tackled almost all aspects related to the management of children with short stature, prov...

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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

4.1. Diagnosis, genetics, and therapy of short stature in children: A growth hormone research society international perspective

International consensus on Beckwith-Wiedemann Syndrome

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