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ey0016.4-8 | New Perspectives | ESPEYB16

4.8. Multigene sequencing analysis of children born small for gestational age with isolated short stature

BL Freire , TK Homma , MFA Funari , AM Lerario , GA Vasques , AC Malaquias , IJP Arnhold , AAL Jorge

To read the full abstract: J Clin Endocrinol Metab. 2019;104:20232030.A child born with birth weight and/or birth length less than 2 SDS below the mean for gestational age is defined as SGA [1]. This definition implies that rather than a specific diagnostic group, SGA children are a heterogenous population with different etiologies, growth patterns and metabolic outcomes. Most SGA ...

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ey0019.1-10 | Clinical Papers | ESPEYB19

1.10. Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil

EB Trarbach , G Trivellin , IPP Grande , FHG Duarte , AAL Jorge , FBP do Nascimento , HM Garmes , M Nery , BB Mendonca , CA Stratakis , MD Bronstein , RS Jallad

Pituitary. 2021;24(2):252-261. doi: 10.1007/s11102-020-01105-4. PMID: 33156432.Brief Summary: Pituitary gigantism is a rare disease, which can be syndromic, as in McCune-Albright syndrome, Carney complex, MEN1 and MEN4, and the newly described three P association (paraganglioma, pheochromocytoma and pituitary adenoma) (1), or non-syndromic caused by mutations ...

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ey0017.4-2 | Important for clinical practice | ESPEYB17

4.2. Genetic disorders in prenatal onset syndromic short stature identified by exome sequencing

TK Homma , BL Freire , RS Honjo Kawahira , A Dauber , MFA Funari , AM Lerario , MY Nishi , EV Albuquerque , GA Vasques , PF Collett-Solberg , SM Miura Sugayama , DR Bertola , CA Kim , IJP Arnhold , AC Malaquias , AAL Jorge

To read the full abstract: J Pediatr. 2019 Dec;215:192198.Identifying the diagnosis in children with syndromic short stature and those with recognized genetic growth disorders is often challenging, as they may share many clinical features (1)(2). The candidate gene approach has many limitations in unveiling the genetic cause. Therefore, whole exome sequencing (WES) has been proposed to improve the diagnostic rate in children with short sta...

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ey0019.1-6 | Genetics | ESPEYB19

1.6. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

P Gergics , C Smith , H Bando , AAL Jorge , D Rockstroh-Lippold , SA Vishnopolska , F Castinetti , M Maksutova , LRS Carvalho , J Hoppmann , Mayer J Martinez , F Albarel , D Braslavsky , A Keselman , I Bergada , MA Marti , A Saveanu , A Barlier , Jamra R Abou , MH Guo , A Dauber , M Nakaguma , BB Mendonca , SN Jayakody , AB Ozel , Q Fang , Q Ma , JZ Li , T Brue , Millan MI Perez , IJP Arnhold , R Pfaeffle , JO Kitzman , SA Camper

Am J Hum Genet. 2021 Aug 5;108(8):1526-1539. doi: 10.1016/j.ajhg.2021.06.013. PMID: 34270938.Brief Summary: This study reports splice-disruptive variants in POU1F1 in 4 families with hypopituitarism and uses a high-throughput splicing reporter assay to create a comprehensive catalogue of such variants in or near exon 2 of the gene. The catalogue paves the way for identifying synon...

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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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ESPE Yearbook of Paediatric Endocrinology

4.8. Multigene sequencing analysis of children born small for gestational age with isolated short stature

1.10. Genetics, clinical features and outcomes of non-syndromic pituitary gigantism: experience of a single center from Sao Paulo, Brazil

4.2. Genetic disorders in prenatal onset syndromic short stature identified by exome sequencing

1.6. High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency

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

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