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ey0021.14-13 | Risk and Outcome | ESPEYB21

14.13. Influence of state-of-the-art laboratory techniques on the phenotyping of women with polycystic ovary syndrome in the clinical setting

Luque-Ramirez M. , Martinez-Garcia M. A. , Insenser M. , Fernandez-Duran E. , Quintero-Tobar A. , Fiers T. , Kaufman J-M. , Garcia-Cano A.M. , Coronado M. Rosillo , Nattero-Chavez L. , Escobar-Morreale H.F.

Brief Summary:This cross-sectional study investigated assay methods for diagnosing PCOS among 359 premenopausal women presenting with functional androgen excess or hyperandrogenemia. Serum androgens and AMH were measured by both immunoassay and LCMS/MS, and ovarian ultrasound was performed. Steroid immunoassays used in routine practice were unacceptably inaccurate compared to LC-MS/MS, and PCOS-positive serum AMH measurements were often not confirmed by ovari...

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ey0021.1-9 | Novel Genes | ESPEYB21

1.9. Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes

J Martinez-Mayer , S Vishnopolska , C Perticarari , LI Garcia , M Hackbartt , M Martinez , J Zaiat , A Jacome-Alvarado , D Braslavsky , A Keselman , I Bergada , R Marino , P Ramirez , NP Garrido , M Ciaccio , Palma MI Di , A Belgorosky , MV Forclaz , G Benzrihen , S D'Amato , ML Cirigliano , M Miras , AP Nunez , L Castro , MS Mallea-Gil , C Ballarino , L Latorre-Villacorta , AC Casiello , C Hernandez , V Figueroa , G Alonso , A Morin , Z Guntsche , H Lee , E Lee , Y Song , MA Marti , MI Perez-Millan

Brief Summary: This study significantly advances our understanding of the genetic underpinnings of congenital hypopituitarism (CH) by utilizing whole exome sequencing (WES) in a large cohort of patients from Argentina.CH is a complex and highly heterogeneous disorder that is associated with highly variable clinical phenotypes that range in severity (1). The aetiology of CH may extend beyond monogenic causes, involving oligogenic, polygenic, or multifacto...

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ESPE Yearbook of Paediatric Endocrinology

14.13. Influence of state-of-the-art laboratory techniques on the phenotyping of women with polycystic ovary syndrome in the clinical setting

1.9. Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes

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