ISSN 1662-4009 (online)

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, ...

ey0021.6-5 | Clinical and Molecular Insights into SF1 Deficiency | ESPEYB21

6.5. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1 /SF-1 variants of sex development

C Kouri , G Sommer , I Martinez de Lapiscina , RN Elzenaty , LJW Tack , M Cools , SF Ahmed , CE; SF1next study group Fluck

Brief Summary: The SF1next study describes a cohort of 197 individuals with NR5A1 / SF-1 variants, identified through the I-DSD registry and a research network involving 55 centers across 18 countries. NR5A1/SF-1 plays a crucial role in the development and function of human sex and steroid producing organs, and variants in this gene can significantly affect early sex determination and differentiation. This can lead to a wide spectrum of differences i...

ey0021.6-12 | Gender Incongruence - Hormone Treatment Continuation | ESPEYB21

6.12. Reidentification with birth-registered sex in a Western Australian pediatric gender clinic cohort

BS Cavve , X Bickendorf , J Ball , LA Saunders , CS Thomas , P Strauss , G Chaplyn , L Marion , A Siafarikas , U Ganti , A Wiggins , A Lin , JK Moore

Brief Summary: This retrospective cohort study investigated referral closures due to reidentification with birth-registered sex at the Child and Adolescent Health Service Gender Diversity Service in Perth, the sole provider of gender-affirming medical treatment for individuals <18 years in Western Australia. Out of 548 referral closures, 29 reidentified with birth-registered sex. Only 2 did so after having started medical treatment, constituting 1.2% (95% CI, 0.1%-4.4%) of...

ey0021.14-12 | Risk and Outcome | ESPEYB21

14.12. Discriminatory value of steroid hormones on polycystic ovary syndrome and clustering of hyperandrogenism and metabolic factors

Wang Zheng , Van Faassen Martijn , Groen Henk , Cantineau Astrid E.P. , Van Oers Anne , Van der Veen Anna , Hawley James M. , Keevil Brian G. , Kema Ido P. , Hoek Annemieke

Brief Summary:This study tested the discriminatory role of 11-oxygenated androgens to diagnose PCOS in women with obesity, and with ( n =132) or without ( n =83) PCOS. No discriminatory role was found. Instead, insulin resistance, blood pressure, obesity and androgens were the principal components characterizing obese PCOS, while no major characteristic finding defined obese non-PCOS women.Numerous studies have addressed the mechanism o...

ey0021.15-4 | New Treatments | ESPEYB21

15.4. Anti-insulin receptor antibody for malignant insulinoma and refractory hypoglycemia

S Osataphan , M Vamvini , ED Rosen , L Pei , N Erlikh , G Singh , P Dhorajiya , JA Parker , JM Dreyfuss , A Rattani , ME. Patti

In Brief: This case report describes the successful use of RZ358, a novel human anti–insulin receptor monoclonal antibody therapy, in a patient with severe, refractory hypoglycaemia due to metastatic insulinoma.The tumour and resulting severe hypoglycaemia had been resistant to treatments with octreotide, lutetium Lu 177 dotatate radionuclide, diazoxide, everolimus, dexamethasone, pasireotide, and glucagon – and the patient, a 55-year old man w...

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...