ISSN 1662-4009 (online)

ey0020.2-3 | Important for Clinical Practice | ESPEYB20

2.3. Timing of puberty, pubertal growth, and adult height in short children born small for gestational age treated with growth hormone

EN Upners , LL Raket , JH Petersen , A Thankamony , E Roche , G Shaikh , J Kirk , H Hoey , SA Ivarsson , O Soder , A Juul , RB Jensen

Brief summary: In this study the authors reported the adult height and timing of puberty of a cohort of Danish children born small for gestational age (SGA) and treated with rhGH in comparison with national growth standards. rhGH treatment significantly increased height SDS in adulthood as compared to the height SDS at treatment start. Age at peak height velocity did not differ compared with the reference cohort, although peak height velocity was reduced in SGA subjects. SGA b...

ey0020.5-2 | Clinical Guidance and Studies | ESPEYB20

5.2. Timing of puberty in relation to semen characteristics, testicular volume, and reproductive hormones: a cohort study

N Brix , A Gaml-Sorensen , A Ernst , LH Arendt , LL Harrits Lunddorf , G Toft , SS Tottenborg , KK Haervig , BB Hoyer , KS Hougaard , JPE Bonde , CH Ramlau-Hansen

Brief summary: This cohort study explored the potential link between self-reported age at puberty and markers of male fecundity.In this article, the authors explored pubertal timing as a determinant of male fecundity. This cohort study was based on the Danish National Birth Cohort which consisted of around 100 000 mother-child pairs recruited during 1996–2002. A little more than 1000 men aged 19 were evaluated for semen volume, sperm concentration, ...

ey0018.1-2 | Development/Ontogeny | ESPEYB18

1.2. Single nucleus multi-omics regulatory landscape of the murine pituitary

F Ruf-Zamojski , Z Zhang , M Zamojski , GR Smith , N Mendelev , H Liu , G Nudelman , M Moriwaki , H Pincas , RG Castanon , VD Nair , N Seenarine , MAS Amper , X Zhou , L Ongaro , C Toufaily , G Schang , JR Nery , A Bartlett , A Aldridge , N Jain , GV Childs , OG Troyanskaya , JR Ecker , JL Turgeon , CK Welt , DJ Bernard , SC Sealfon

Nat Commun. 2021 May 11;12(1):2677. doi: 10.1038/s41467-021-22859-w. PMID: 33976139This work generated an integrated single nucleus multi-omics resource to elucidate the epigenetic mechanisms that regulate transcriptional networks in the murine pituitary. The authors identified epigenetically defined cell type composition, cell type-specific and sex-specific differences in transcription...

ey0018.4-6 | Growth Hormone Therapy: Safety | ESPEYB18

4.6. Long-term mortality after childhood growth hormone treatment: the SAGhE cohort study

L Savendahl , R Cooke , A Tidblad , D Beckers , G Butler , S Cianfarani , P Clayton , J Coste , ACS Hokken-Koelega , W Kiess , CE Kuehni , K Albertsson-Wikland , A Deodati , E Ecosse , R Gausche , C Giacomozzi , D Konrad , F Landier , R Pfaeffle , G Sommer , M Thomas , S Tollerfield , GRJ Zandwijken , JC Carel , AJ Swerdlow

Lancet Diabetes Endocrinol. 2020;8(8):683–692. doi: 10.1016/S2213-8587(20)30163-7. PMID: 32707116SAGhE is a large independent European consortium including eight different countries (Belgium, France, Germany, Italy, The Netherlands, Sweden, Switzerland, and the UK) which was set up to evaluate the long-term safety of rhGH in a large cohort (>24 000) of young adult patients t...

ey0018.8-8 | Clinical Trials – New Treatments | ESPEYB18

8.8. Efficacy and safety of setmelanotide, an MC4R agonist, in individuals with severe obesity due to LEPR or POMC deficiency: single-arm, open-label, multicentre, phase 3 trials

K Clement , E van den Akker , J Argente , A Bahm , WK Chung , H Connors , K De Waele , IS Farooqi , J Gonneau-Lejeune , G Gordon , K Kohlsdorf , C Poitou , L Puder , J Swain , M Stewart , G Yuan , M Wabitsch , P; Setmelanotide POMC and LEPR Phase 3 Trial Investigators Kuhnen

Lancet Diabetes Endocrinol. 2020 Dec;8(12):960–970.https://pubmed.ncbi.nlm.nih.gov/33137293/This article reports the results of two single-arm, open-label, multicentre, phase 3 trials of the MC4R agonist, setmelanotide, in patients with severe obesity due to pro-opiomelanocortin (POMC) deficiency or leptin receptor (LEPR) deficiency. Mean % change in bodyweight after ~1 year was &#8722...

ey0019.6-4 | Co-morbidities associated with DSD | ESPEYB19

6.4. Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development

LJW Tack , der Straaten S van , S Riedl , A Springer , PM Holterhus , NC Hornig , Z Kolesinska , M Niedziela , F Baronio , A Balsamo , SE Hannema , A Nordenstrom , S Poyrazoglu , FF Darendeliler , R Grinspon , R Rey , F Aljuraibah , J Bryce , F Ahmed , R Tadokoro-Cuccaro , I Hughes , G Guaragna-Filho , AT Maciel-Guerra , G Guerra-Junior , M Cools

Clin Endocrinol (Oxf). 2022 Feb;96(2):165-174. PMID: 34668586, doi: 10.1111/cen.14614.Brief Summary: This retrospective case-control study used data from the international DSD registry to investigate the long-term outcomes of males born small for gestational age (SGA) with hypospadias/DSD. A large cohort of 179 boys (115 males born SGA; 64 appropriate for gestational age) was investigated for growt...

ey0019.6-5 | Basic and Genetic Research of DSD | ESPEYB19

6.5. Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C

D Cicek , N Warr , G Yesil , Eker H Kocak , F Bas , S Poyrazoglu , F Darendeliler , G Direk , N Hatipoglu , M Eltan , Abali Z Yavas , Tosun B Gurpinar , SB Kaygusuz , Menevse T Seven , D Helvacioglu , S Turan , A Bereket , R Reeves , M Simon , M Mackenzie , L Teboul , A Greenfield , T Guran

Eur J Endocrinol. 2021 Dec 1;186(1):65-72. PMID: 34714774, doi: 10.1530/EJE-21-0910.Brief Summary: This brief report describes a novel gene, PPP2R3C, in the pathogenesis of complete and partial XY and XX gonadal dysgenesis (GD).GD is a very rare condition with an estimated prevalence of 1–9 cases per 100,000 live-births. GD can be classified as either complete...

ey0019.7-8 | Basic Science | ESPEYB19

7.8. GnRH neurons recruit astrocytes in infancy to facilitate network integration and sexual maturation

G Pellegrino , M Martin , C Allet , T Lhomme , S Geller , D Franssen , V Mansuy , M Manfredi-Lozano , A Coutteau-Robles , V Delli , S Rasika , D Mazur , A Loyens , M Tena-Sempere , J Siepmann , FP Pralong , P Ciofi , G Corfas , AS Parent , SR Ojeda , A Sharif , V Prevot

Nat Neurosci. 2021 Dec;24(12):1660-1672. doi: 10.1038/s41593-021-00960-z. Epub 2021 Nov 18. PMID: 34795451. https://www.nature.com/articles/s41593-021-00960-zBrief Summary: This neuroanatomical and physiological study in mice demonstrates that GnRH neurons attract glial cells in their vicinity via cell–cell communication...

ey0019.7-10 | Basic Science | ESPEYB19

7.10. The cryptic gonadotropin-releasing hormone neuronal system of human basal ganglia

K Skrapits , M Sarvari , I Farkas , B Gocz , S Takacs , E Rumpler , V Vaczi , C Vastagh , G Racz , A Matolcsy , N Solymosi , S Poliska , B Toth , F Erdelyi , G Szabo , MD Culler , C Allet , L Cotellessa , V Prevot , P Giacobini , E Hrabovszky

Elife. 2021 Jun 15;10:e67714. doi: 10.7554/eLife.67714. PMID: 34128468https://elifesciences.org/articles/67714Brief Summary: This histological and transcriptomic study evaluates the presence and the potential role of extra-hypothalamic GnRH neurons in humans and identifies cholinergic GnRH-synthesizing cells in the human basal...

ey0017.5-12 | Advances in Skeletal Biology | ESPEYB17

5.12. Lipid availability determines fate of skeletal progenitor cells via SOX9

N van Gastel , S Stegen , G Eelen , S Schoors , A Carlier , VW Daniels , N Baryawno , D Przybylski , M Depypere , PJ Stiers , D Lambrechts , R Van Looveren , S Torrekens , A Sharda , P Agostinis , D Lambrechts , F Maes , JV Swinnen , L Geris , H Van Oosterwyck , B Thienpont , P Carmeliet , DT Scadden , G Carmeliet

To read the full abstract: Nature 2020;579:111–117.In brief: In large fracture calluses, skeletal progenitors activate the chondrogenesis program, whereas in smaller calluses, direct osteogenesis is the preferred path. Here, the authors show that lipid availability determines whether skeletal stem cells repair a fracture through endochondral bone formation or direct ossificati...