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12.7. Preoperative circulating 11-oxygenated androgens are associated with metastasis-free survival in localized prostate cancer

C Dahmani , P Caron , D Simonyan , L Lacombe , A Aprikian , F Saad , M Carmel , S Chevalier , E Levesque , C Guillemette

Brief summary: In the prospective PROCURE study cohort (n=1783), 11-oxygenated androgens were studied in all men with newly diagnosed localized prostate cancer before undergoing radical prostatectomy. Data were related to clinical outcomes (e.g. metastatic disease). Levels of the adrenal androgen precursor 11b-OH-androstenedione were associated with progressive disease, while levels of the predominant bioactive 11-ketotestosterone and its metabolite 11-ketoandrosteron...

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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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ey0017.6-8 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

K McElreavey , A Jorgensen , C Eozenou , T Merel , J Bignon-Topalovic , DS Tan , D Houzelstein , F Buonocore , N Warr , RGG Kay , M Peycelon , JP Siffroi , I Mazen , JC Achermann , Y Shcherbak , J Leger , A Sallai , JC Carel , L Martinerie , R Le Ru , GS Conway , B Mignot , L Van Maldergem , R Bertalan , E Globa , R Brauner , R Jauch , S Nef , A Greenfield , A Bashamboo

To read the full abstract: Genet Med. 2020, Jan; 22: 150-9. doi: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944638/pdf/41436_2019_Article_606.pdfMassive parallel sequencing of 145 46,XY DSD patients revealed 13 individuals with heterozygous missense pathogenic variants in the RNA helicase DHX37, explaining 11% of cases of 46,XY gonadal d...

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ey0019.9-7 | Fertility issues and reproductive outcomes in childhood cancer survivors | ESPEYB19

9.7. Fertility status among long-term childhood acute lymphoblastic leukaemia survivors enrolled between 1971 and 1998 in EORTC CLG studies: results of the 58 late adverse effects study

Rossi G. , Kicinski M. , Suciu S. , Vandecruys E. , Plat G. , Uyttebroeck A. , Paillard C. , Barbati M. , Dresse M.F. , Simon P. , Minckes O. , Pluchart C. , Ferster A. , Freycon C. , Millot F. , van der Werfften Bosch J. , Chantrain C. , Paulus R. , de Rojas T. , de Schaetzen G. , Rohrlich P. , Benoit Y. , Piette C.

On behalf of the European Organisation for Research and Treatment of Cancer (EORTC) Childrens Leukemia Group (CLG)caroline.piette@chuliege.be Human Reproduction, 2022; 37: 4453. PMID: 34788455.Brief Summary: This case-control study evaluated fertility status in childhood acute lymphoblastic leukaemia (ALL) survivors enrolled in the European Organisation for Research and Treatment of Ca...

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ey0020.7-7 | Gonadal Function and Fertility Issues in Childhood Cancer Survivors | ESPEYB20

7.7. The uterine volume is dramatically decreased after hematopoietic stem cell transplantation during childhood regardless of the conditioning regimen

B Courbiere , B Drikes , A Grob , Z Hamidou , P Saultier , Y Bertrand , V Gandemer , D Plantaz , G Plat , M Poiree , S Ducassou , C Pochon , JH Dalle , S Thouvenin , C Paillard , J Kanold , A Sirvent , C Rousset-Jablonski , S Duros , A Gueniffey , C Cohade , S Boukaidi , S Frantz , M Agopiantz , C Poirot , A Genod , O Pirrello , AS Gremeau , S Bringer-Deutsch , P Auquier , G Michel

Brief summary: This French multicenter prospective study analyzed uterine volume by pelvic MRI in 88 women (age range 1840 years), who were survivors of childhood acute leukemia treated with hematopoietic stem cell transplantation (HSCT). They were compared to 88 healthy women matched for age and parity.Conditioning regimens before HSCT included alkylating agents for 34 women and total body irradiation (TBI) for 54 women. Scans were centralized and...

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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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ey0016.8-16 | New Paradigms | ESPEYB16

8.16. Autoantibodies reactive to adrenocorticotropic hormone can alter cortisol secretion in both aggressive and nonaggressive humans

H Vaeroy , C Adori , R Legrand , N Lucas , J Breton , C Cottard , Rego JC do , C Duparc , E Louiset , H Lefebvre , P Dechelotte , E Western , S Andersson , T Hokfelt , SO Fetissov

To read the full abstract: Proc Natl Acad Sci U S A. 2018; 115(28): E6576E6584.It is accepted that aggressive behavior can be viewed as a strategy by humans and animals to cope with stress, implying that neurobiological mechanisms involved in stress responses should underlie both physiological and pathological aggression (15, 16). The hypothalamicpituitaryadrenal ...

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ey0015.4-10 | New perspectives | ESPEYB15

4.10 Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

NN Hauer , H Sticht , S Boppudi , C Büttner , C Kraus , U Trautmann , M Zenker , C Zweier , A Wiesener , RA Jamra , D Wieczorek , J Kelkel , AM Jung , S Uebe , AB Ekici , T Rohrer , A Reis , HG Dörr , CT. Thiel

To read the full abstract: Sci Rep 2017; 22(7):12225The GH/IGF1 axis has historically been considered the most relevant regulator of growth. However, defects in the GH/IGF1 axis can be identified only in a minority of children with short stature. Human growth is dependent on chondrocyte proliferation and hypertrophy as well as structure and function of extracellular matrix in the gro...

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ey0018.1-6 | Development/Ontogeny | ESPEYB18

1.6. The histone H3-lysine 4-methyltransferase Mll4 regulates the development of growth hormone-releasing hormone-producing neurons in the mouse hypothalamus

C Huisman , YA Kim , S Jeon , B Shin , J Choi , SJ Lim , SM Youn , Y Park , K C M , S Kim , SK Lee , S Lee , JW Lee

Nat Commun. 2021 Jan 11;12(1):256. doi: 10.1038/s41467-020-20511-7. PMID: 33431871.These authors report two Mll4 mutant mouse models that exhibited dwarfism and altered development of GHRH−neurons.Inactivating mutations in KDM6A (aka UTX) or KMT2D (aka MLL4) genes result in Kabuki syndrome (KS), whose hallmarks in...

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ey0019.13-5 | Improving access to healthcare in pediatric endocrinology and diabetes | ESPEYB19

13.5. Access to insulin products in Pakistan: a national scale cross-sectional survey on prices, availability, and affordability

A Saeed , K Lambojon , H Saeed , Z Saleem , N Anwer , M Majid Aziz , W Ji , W Liu , C Chen , C Yang , Y Fang , Z-U-D Babar

yufang@mail.xjtu.edu.cn Front Pharmacol 2022 13:820621. doi: 10.3389/fphar.2022.820621Brief Summary: This national cross-sectional survey in Pakistan found poor availability of insulin in the public sector, even for brands manufactured by domestic companies.Access to insulin remains a major issue worldwide in low- and middl...

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ESPE Yearbook of Paediatric Endocrinology

12.7. Preoperative circulating 11-oxygenated androgens are associated with metastasis-free survival in localized prostate cancer

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

6.8. Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

9.7. Fertility status among long-term childhood acute lymphoblastic leukaemia survivors enrolled between 1971 and 1998 in EORTC CLG studies: results of the 58 late adverse effects study

7.7. The uterine volume is dramatically decreased after hematopoietic stem cell transplantation during childhood regardless of the conditioning regimen

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

8.16. Autoantibodies reactive to adrenocorticotropic hormone can alter cortisol secretion in both aggressive and nonaggressive humans

4.10 Genetic screening confirms heterozygous mutations in ACAN as a major cause of idiopathic short stature

1.6. The histone H3-lysine 4-methyltransferase Mll4 regulates the development of growth hormone-releasing hormone-producing neurons in the mouse hypothalamus

13.5. Access to insulin products in Pakistan: a national scale cross-sectional survey on prices, availability, and affordability

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