ISSN 1662-4009 (online)

ey0015.7-6 | Genetic variants and timing of puberty | ESPEYB15

7.6 Differential Impact of Genetic Loci on Age at Thelarche and Menarche in Healthy Girls

AS Busch , CP Hagen , M Assens , KM Main , K Almstrup , A Juul

To read the full abstract: J Clin Endocrinol Metab. 2018 Jan 1;103(1):228-234[Comments on 7.5 and 7.6] Remarkably, the timing of puberty shows important differences between individuals1. Based on twin studies, differences in pubertal timing are considered to depend on genetic factors which account for up to 60-70% of the varianc...

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

5.5. AMH concentrations in infancy and mid-childhood predict ovarian activity in adolescence: a long-term longitudinal study of healthy girls

CP Hagen , MB Fischer , C Wohlfahrt-Veje , M Assens , AS Busch , AT Pedersen , A Juul , KM Main

Brief summary: This long-term longitudinal study of 437 Danish girls shows that AMH level measured in infancy is a useful tool to predict future ovarian activity.Anti-Müllerian hormone (AMH) is produced by granulosa cells in small ovarian follicles and thus reflects the ovarian reserve of resting primordial follicles (1). High AMH concentrations are observed in women with polycystic ovarian syndrome (PCOS) (2), while low age-specific AMH could be as...

ey0019.15-8 | Assorted Conditions | ESPEYB19

15.8. Serum testosterone levels in 3-month-old boys predict their semen quality as young adults

Henriksen L Scheutz , Petersen J Holm , NE Skakkebaek , N Jorgensen , HE Virtanen , L Priskorn , A Juul , J Toppari , KM Main

J Clin Endocrinol Metab. 2022;107(7):1965-75. doi: 10.1210/clinem/dgac173.PubMed ID: 35323957Brief summary: This population-based birth cohort study related infancy serum testosterone concentrations at age 3 months to parameters of reproductive function at age 18 to 20 years in 259 males. Serum testosterone in infancy predicted adult total sperm counts, and other reproductive hormones and geni...

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 ...

ey0020.2-5 | Important for Clinical Practice | ESPEYB20

2.5. Tracking and cumulative lifetime exposure to IGF-I in 6459 healthy individuals and in SGA children treated with GH

ASL Kjaer , RB Jensen , JH Petersen , A Linneberg , LL Karhus , LS Henriksen , TH Johannsen , KM Main , AR Hoffman , A Juul

Brief summary: The objective of this study was to examine whether IGF-I and IGF-binding protein-3 (IGFBP-3) levels track through childhood into adulthood and to estimate the cumulative lifetime exposure to IGF-I in healthy individuals and in individuals with a defined period of increased IGF-I levels because of GH therapy.Measurement of serum IGF-I is a cornerstone in rhGH treatment monitoring. Keeping serum IGF-I concentrations within the normal referen...

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.</...

ey0020.5-4 | Clinical Guidance and Studies | ESPEYB20

5.4. Reproductive markers of testicular function and size during puberty in boys with and without a history of cryptorchidism

W Rodprasert , JJ Koskenniemi , HE Virtanen , S Sadov , A Perheentupa , H Ollila , J Albrethsen , A-M Andersson , A Juul , NE Skakkebaek , KM Main , J Toppari

Brief summary: This prospective longitudinal study compared serum reproductive hormone levels and testicular volume around the onset of puberty between cryptorchid and healthy boys.Congenital cryptorchidism is the most common congenital anomaly among newborn boys, and still little is known about pubertal testicular function and serum reproductive hormone levels during puberty in this population.Pubertal follow-up with clinical exam...

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...