ISSN 1662-4009 (online)

ey0016.6-7 | Laboratory Medicine in DSD | ESPEYB16

6.7. Sex differences in reproductive hormones during mini-puberty in infants with normal and disordered sex development

TH Johannsen , KM Main , ML Ljubicic , TK Jensen , HR Andersen , MS Andersen , JH Petersen , AM Andersson , A Juul

J Clin Endocrinol Metab. 2018 Aug 1;103(8):3028–3037.doi: 10.1210/jc.2018-00482. PubMed ID: 29917083Minipuberty is a poorly understood developmental event at 1–6 months of age, during which the hypothalamic-pituitary-gonadal axis is transiently activated.This study assessed serum reproductive hormone concentrations in 1840 healthy boys ...

ey0017.7-2 | Clinical Guidance | ESPEYB17

7.2. Sex-specific estrogen levels and reference intervals from infancy to late adulthood determined by LC-MS/MS

H Frederiksen , TH Johannsen , SE Andersen , J Albrethsen , SK Landersoe , JH Petersen , AN Andersen , ET Vestergaard , ME Schorring , A Linneberg , KM Main , AM Andersson , A Juul

To read the full abstract: Journal of clinical endocrinology and metabolism vol. 105,3 (2020):754–768. doi: https://academic.oup.com/jcem/article/105/3/754/5624050The authors used state-of-the-art liquid chromatography tandem mass spectrometry to establish sex-specific reference ranges for estrone (E1) and estradiol (E2) throughout life and evaluate sex-differences.</...

ey0016.2-16 | Fetal and Neonatal Cortisol Physiology | ESPEYB16

2.16. Characterization of human adrenal steroidogenesis during fetal development

C Melau , JE Nielsen , H Frederiksen , K Kilcoyne , S Perlman , L Lundvall , LL Thuesen , K Juul Hare , AM Andersson , RT Mitchell , A Juul , A Jorgensen

J Clin Endocrinol Metab. 2018 Dec 21. [Epub ahead of print]. doi: 10.1210/jc.2018-01759.This study aimed to investigate Human fetal adrenal (HFA) steroidogenesis by analyzing adrenal glands from 1st and 2nd trimester. Steroidogenesis in the HFA is tightly regulated throughout the first and second trimesters, which is crucial because the adrenal steroid hormones affect the overall intrauterine endocri...

ey0018.6-12 | Reviews with Clinical Impact for DSD Care | ESPEYB18

6.12. Peptide hormone analysis in diagnosis and treatment of Differences of Sex Development: joint position paper of EU COST Action 'DSDnet' and European Reference Network on Rare Endocrine Conditions

TH Johannsen , AM Andersson , SF Ahmed , YB de Rijke , RF Greaves , MF Hartmann , O Hiort , PM Holterhus , NP Krone , A Kulle , ML Ljubicic , G Mastorakos , J McNeilly , AM Pereira , A Saba , SA Wudy , KM Main , A Juul

Eur J Endocrinol. 2020 Jun;182(6):P1–P15. doi: 10.1530/EJE-19-0831. PMID: 32268295.This paper describes the concerted efforts of the EU COST Action DSDNet and the European network for rare endocrine diseases Endo-ERN. A total of 33 laboratories were involved and they describe state of the art assessments of the peptide hormones: follicle-stimulating hormone (FSH), luteinizing hormone (LH)...

ey0017.6-3 | Differences/Disorders of Sex Development: A DSDnet Pape | ESPEYB17

6.3. Peptide hormone analysis in diagnosis and treatment of differences of sex development: Joint position paper of EU COST action ‘DSDnet’ and european reference network on rare endocrine conditions

TH Johannsen , AM Andersson , SF Ahmed , YB de Rijke , RF Greaves , MF Hartmann , O Hiort , PM Holterhus , NP Krone , A Kulle , ML Ljubicic , G Mastorakos , J McNeilly , AM Pereira , A Saba , SA Wudy , KM Main , A Juul

To read the full abstract: Eur J Endocrinol. 2020, Jun; 182: P1–p15; doi: https://eje.bioscientifica.com/downloadpdf/journals/eje/182/6/EJE-19-0831.pdfDiagnosis and monitoring of therapies for DSD patients require clinical, biochemical and genetic assessments. Biochemical analyses comprise the measurements of peptide and steroid hormones. This positi...