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ey0016.8-8 | Important for Clinical Practice | ESPEYB16

8.8. The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration

IC Huffnagel , FK Laheji , R Aziz-Bose , NA Tritos , R Marino , GE Linthorst , S Kemp , M Engelen , F Eichler

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(1): 118126.Primary adrenal insufficiency (AI) is a major clinical manifestation in boys and men with X-linked adrenoleukodystrophy (ALD), a progressive neurodegenerative inborn error of metabolism readily diagnosed by detecting elevated plasma very-long-chain fatty acids (VLCFAs), in particular the ratios of C26:0/...

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ey0018.1-8 | Genetics | ESPEYB18

1.8. Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders.

SA Vishnopolska , MF Mercogliano , MA Camilletti , AH Mortensen , D Braslavsky , A Keselman , I Bergada , F Olivieri , L Miranda , R Marino , P Ramirez , GN Perez , H Patino Mejia , M Ciaccio , MI Di Palma , A Belgorosky , A Marti Marcelo , JO Kitzman , SA Camper , MI Perez-Millan

J Clin Endocrinol Metab. 2021 Mar 17:dgab177. doi: 10.1210/clinem/dgab177. PMID: 33729509.Vishnopolska et al. conducted a comprehensive evaluation of 67 hypopituitarism candidate genes in 170 congenital hypopituitarism (CH) patients from Argentina by using small molecule molecular inversion probes followed by sequencing (smMIPS) panel. 57 patients had isolated growth hormone defici...

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ey0018.6-2 | Basic and Genetic Research of DSD | ESPEYB18

6.2. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

C Eozenou , N Gonen , MS Touzon , A Jorgensen , SA Yatsenko , L Fusee , AK Kamel , B Gellen , G Guercio , P Singh , S Witchel , AJ Berman , R Mainpal , M Totonchi , A Mohseni Meybodi , M Askari , T Merel-Chali , J Bignon-Topalovic , R Migale , M Costanzo , R Marino , P Ramirez

Proc Natl Acad Sci USA. 2020 Jun 16;117(24):1368013688. 10.1073/pnas.1921676117. PMID: 32493750.On the search for a genetic cause for 46,XX virilization due to testicular (TDSD) or ovotesticular DSD (OTDSD), 78 individuals were studied by whole exome sequencing. In 7 cases, heterozygous de novo variants were found in the 4th zinc finger (ZF4) of the Wilms tumor 1 gene (<em...

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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

8.8. The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration

1.8. Comprehensive identification of pathogenic gene variants in patients with neuroendocrine disorders.

6.2. Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) gene

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

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