Abstract Search

ey0017.8-17 | Food for Thought | ESPEYB17

8.17. Plasma renin measurements are unrelated to mineralocorticoid replacement dose in patients with primary adrenal insufficiency

R Pofi , A Prete , V Thornton-Jones , J Bryce , SR Ali , Ahmed S Faisal , A Balsamo , F Baronio , A Cannuccia , A Guven , T Guran , F Darendeliler , C Higham , W Bonfig , L de Vries , TASS Bachega , MC Miranda , BB Mendonca , V Iotova , M Korbonits , NP Krone , R Krone , A Lenzi , W Arlt , RJ Ross , AM Isidori , JW Tomlinson

To read the full abstract: J Clin Endocrinol Metab. 2020; 105(1): dgz055. PMID: 31613957.Mineralocorticoid (MC) replacement therapy along with glucocorticoid (GC) replacement is crucial to avoid life-threating adrenal crises in Addison´s disease (AD) and in classical CAH (13). MC is administered with the aim of achieving plasma renin concentration (PRC) within the upper limit of ...

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ey0016.5-7 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.7. Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

P Heyn , CV Logan , A Fluteau , RC Challis , T Auchynnikava , CA Martin , JA Marsh , F Taglini , F Kilanowski , DA Parry , V Cormier-Daire , CT Fong , K Gibson , V Hwa , L Ibanez , SP Robertson , G Sebastiani , J Rappsilber , RC Allshire , MAM Reijns , A Dauber , D Sproul , AP Jackson

Abstract Link: Nat Genet. 2019 Jan;51(1):96105.In brief: Gain-of-function mutations altering DNMT3A are identified as a new cause of microcephalic dwarfism. Modelling of the disease in mice show that the mutations abrogate DNMT3A binding to H3K36me2 and H3K36me3 and lead to aberrant DNA methylation of Polycomb-marked regions and therefore repression ...

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ey0015.4-12 | New mechanisms | ESPEYB15

4.12 Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

M Gutiérrez , P Scaglia , A Keselman , L Martucci , L Karabatas , S Domené , A Martin , P Pennisi , M Blanco , N Sanguineti , L Bezrodnik , D Di Giovanni , MS Caldirola , ME Azcoiti , MI Gaillard , LA Denson , K Zhang , A Husami , NH Yayah Jones , V Hwa , S Revale , M Vázquez , H Jasper , A Kumar , H Domené

To read the full abstract: Mol Cell Endocrinol 2018; 15;473:166-177Signal transducers and activators of transcription (STAT) proteins are transcription factors transiently activated by different ligands such as cytokines, growth factors, or peptides, which trigger intracellular tyrosine phosphorylation along the JAK-STAT signaling pathway. Phosphorylated STAT induces...

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ey0015.7-11 | New genes in hypogonadotropic hypogonadism | ESPEYB15

7.11 KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

C Xu , A Messina , E Somm , H Miraoui , T Kinnunen , J Acierno , NJ Niederländer , J Bouilly , AA Dwyer , Y Sidis , D Cassatella , GP Sykiotis , R Quinton , C De Geyter , M Dirlewanger , V Schwitzgebel , TR Cole , AA Toogood , JM Kirk , L Plummer , U Albrecht , WF Crowley , M Mohammadi , M Tena-Sempere , V Prevot , N Pitteloud

To read the full abstract: EMBO Mol Med. 2017 Oct;9(10):1379-1397[Comments on 7.10 and 7.11] During embryonic development, GnRH neurons originate in the olfactory placode and migrate through the nasal mesenchyme using the olfactory/vomeronasal axons as a scaffold to reach their final destination in the basal forebrain1,2. Th...

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ey0018.3-4 | Thyroid development | ESPEYB18

3.4. Single-cell transcriptome analysis reveals thyrocyte diversity in the zebrafish thyroid gland

P Gillotay , M Shankar , B Haerlingen , E Sema Elif , M Pozo-Morales , I Garteizgogeascoa , S Reinhardt , A Krankel , J Blasche , A Petzold , N Ninov , G Kesavan , C Lange , M Brand , A Lefort , F Libert , V Detours , S Costagliola , S Sumeet Pal

EMBO Rep. 2020;21:e50612. doi: 10.15252/embr.202050612.This zebrafish study identified and molecularly characterized adult transcriptionally different thyrocyte subpopulations even within the same follicle.It is well established that within a thyroid gland, follicles are heterogenous concerning functional activity. More active follicles are characterized by a high co...

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ey0018.4-12 | New Perspectives | ESPEYB18

4.12. DNA methylation profiling and genomic analysis in 20 children with short stature who were born small for gestational age

S Peeters , K Declerck , M Thomas , E Boudin , D Beckers , O Chivu , C Heinrichs , K Devriendt , F de Zegher , Hul Van , Vanden Wim , V Berghe , J De Schepper , R Rooman , G Mortier

J Clin Endocrinol Metab. 2020;105(2):dgaa465. doi: 10.1210/clinem/dgaa465. PMID: 32685970This study aimed to identify potential (epi)genetic causes of short stature in 20 SGA children (13 boys; 7 girls) treated with rhGH. Exome sequencing, single-nucleotide polymorphism (SNP) array (both performed in the whole cohort) and genome-wide methylation analysis (performed in a random subset of 10 ...

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ey0018.6-4 | Basic and Genetic Research of DSD | ESPEYB18

6.4. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

H Mandel , N Cohen Kfir , A Fedida , E Shuster Biton , M Odeh , L Kalfon , S Ben- Harouch , V Fleischer Sheffer , Y Hoffman , Y Goldberg , A Dinwiddie , E Dumin , A Eran , L Apel-Sarid , D Tiosano , TC Falik-Zaccai

Clin Genet. 2020 Oct;98(4):402407. 10.1111/cge.13816. PMID: 32683677.This short report describes two 46,XY siblings of consanguineous parents manifesting a complex syndrome consisting of multiple dysmorphic features including growth and developmental retardation, gastrointestinal disorders, musculoskeletal and cardiac anomalies, as well as ambiguous genitalia (non-palpable testes, micropenis, und...

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ey0018.11-3 | New hope: Increased diagnostic yield for disease causing MC4R variants and pharmacological treatment options | ESPEYB18

11.3. Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation

B Brouwers , EM de Oliveira , M Marti-Solano , FBF Monteiro , SA Laurin , JM Keogh , E Henning , R Bounds , CA Daly , S Houston , V Ayinampudi , N Wasiluk , D Clarke , B Plouffe , M Bouvier , MM Babu , IS Farooqi , J Mokrosiński

J Cell Rep. 2021 Mar 23;34(12):108862. 10.1016/j.celrep.2021.108862. https://pubmed.ncbi.nlm.nih.gov/33761344/This study demonstrates that MC4R variants found in humans affect receptor endocytosis, trafficking and dimerization and thus reveal multiple cellular mechanisms involved in weight regulation. The findings contributes to our und...

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ey0018.14-8 | (1) | ESPEYB18

14.8. Mesenchyme-derived IGF2 is a major paracrine regulator of pancreatic growth and function

Hammerle Constanze M , Sandovici Ionel , Brierley Gemma V , Smith Nicola M , Zimmer Warren E , Zvetkova Ilona , Prosser Haydn M , Sekita Yoichi , Lam Brian YH , Ma Marcella , Cooper Wendy N , Vidal-Puig Antonio , Ozanne Susan E , Medina-Gomez Gema , Constancia Miguel

PLoS Genet. 2020; 16(10): e1009069. doi: https://doi.org/10.1371/journal.pgen.1009069The authors used mouse conditional gene knock-out models to investigate the role of Insulin-like growth factor-2 (Igf2) in pancreatic growth and function. When Igf2 was deleted specifically in mesenchyme-derived cells (but not when deleted in exocrine and endocrine cells), the entire pancreas was smal...

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ey0019.2-5 | Neonatal hypoglycaemia | ESPEYB19

2.5. PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome

MA Shahrour , FM Lasorsa , V Porcelli , I Dweikat , MA Di Noia , M Gur , G Agostino , A Shaag , T Rinaldi , G Gasparre , F Guerra , A Castegna , S Todisco , B Abu-Libdeh , O Elpeleg , L Palmieri

J Clin Endocrinol Metab. 2021 19;107(5):1346-1356. doi: 10.1210/clinem/dgab932. PMID: 34971397.Brief Summary: This is a case report of a potentially new genetic disorder that causes hyperinsulinaemic hypoglycemia, protein sensitivity and high serum ammonia level (Hyperinsulinism/hyperammonemia syndrome (HI/HA) syndrome). Mutations in the solute the carrier family 25, member 36 (SLC25A36) may b...

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ESPE Yearbook of Paediatric Endocrinology

8.17. Plasma renin measurements are unrelated to mineralocorticoid replacement dose in patients with primary adrenal insufficiency

5.7. Gain-of-function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of Polycomb-regulated regions

4.12 Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

7.11 KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism

3.4. Single-cell transcriptome analysis reveals thyrocyte diversity in the zebrafish thyroid gland

4.12. DNA methylation profiling and genomic analysis in 20 children with short stature who were born small for gestational age

6.4. COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.

11.3. Human MC4R variants affect endocytosis, trafficking and dimerization revealing multiple cellular mechanisms involved in weight regulation

14.8. Mesenchyme-derived IGF2 is a major paracrine regulator of pancreatic growth and function

2.5. PNC2 (SLC25A36) deficiency associated with the hyperinsulinism/hyperammonemia syndrome

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