ISSN 1662-4009 (online)

ey0019.3-12 | Autoimmune Thyroid Disease | ESPEYB19

3.12. The 2022 European Thyroid Association guideline for the management of pediatric Graves' disease

CF Mooij , TD Cheetham , FA Verburg , A Eckstein , SH Pearce , J Leger , ASP van Trotsenburg

Eur Thyroid J. 2022 Jan 1;11(1):e210073. doi: 10.1530/ETJ-21-0073. PMID: 34981748The 2022 European Thyroid Association Guidelines for the management of Graves’ disease in the pediatric age group is an important document summarizing all aspects of the disease, ranging from diagnosis, medical treatment with its advantages and side effects, definitive treatment by thyroidectomy or radioiodine a...

ey0020.4-12 | Changes to Growth Patterns | ESPEYB20

4.12. Just as tall on testosterone; a neutral to positive effect on adult height of GnRHa and testosterone in trans boys

LA Willemsen , LS Boogers , CM Wiepjes , DT Klink , ASP van Trotsenburg , M den Heijer , SE Hannema

Brief summary: This paper investigated the effect of pubertal suppression with GnRHa and gender affirming treatment with testosterone on the growth and final height of transgender boys. They found no negative effects, and even possibly a slight boost to adult height in comparison with target and predicted heights for birth-registered sex.One of the concerning features of transgender males is being able to identify with their cisgender peers in stature. I...

ey0018.3-10 | Congenital hypothyroidism | ESPEYB18

3.10. Cognitive and motor outcome in patients with early-detected central congenital hypothyroidism compared with siblings

JC Naafs , JP Marchal , E Fliers , PH Verkerk , MAJ Luijten , A Boelen , ASP van Trotsenburg , N Zwaveling-Soonawala

J Clin Endocrinol Metab. 2021;106:e1231–e1239. doi: 10.1210/clinem/dgaa901.The results of this study are a robust argument to implement neonatal screening for central congenital hypothyroidism (CCH) worldwide. Only few countries, such as the Netherlands, screen for CCH. Neurodevelopmental outcome data are scarce for CCH compared to primary congenital hypothyroidism (PCH) not only becau...

ey0016.3-16 | New Guidelines | ESPEYB16

3.16. 2018 European Thyroid Association (ETA) Guidelines on the diagnosis and management of central hypothyroidism

L Persani , G Brabant , M Dattani , M Bonomi , U Feldt-Rasmussen , E Fliers , A Gruters , D Maiter , N Schoenmakers , ASP van Trotsenburg

Eur Thyroid J. 2018;7:225-37. doi: 10.1159/000491388. Epub 2018 Jul 19https://www.ncbi.nlm.nih.gov/pubmed/30374425Diagnosis and treatment of central hypothyroidism are much more complex than for primary hypothyroidism. For the first time, guidelines summarize all the available evidence to provide a thorough state of...

ey0017.4-12 | New paradigms | ESPEYB17

4.12. IGSF1 Deficiency results in human and murine somatotrope neurosecretory hyperfunction

SD Joustra , F Roelfsema , ASP van Trotsenburg , HJ Schneider , RP Kosilek , HM Kroon , JG Logan , NC Butterfield , X Zhou , C Toufaily , B Bak , MO Turgeon , E Brule , FJ Steyn , M Gurnell , O Koulouri , P Le Tissier , P Fontanaud , JHD Bassett , GR Williams , W Oostdijk , JM Wit , AM Pereira , NR Biermasz , DJ Bernard , N Schoenmakers

To read the full abstract: J Clin Endocrinol Metab, March 2020, 105(3):e70–e84A cohort of 21 adult males (aged 19 to 89 years) harboring hemizygous pathogenic IGSF1 gene mutations underwent anthropometry, endocrine testing, testis ultrasonography, and body composition assessment to define the pathophysiological role of IGSF1 in influencing GH secretion. In addition, two lines of Igsf1 -deficient male mice were use...

ey0020.6-5 | Important for Clinical Practice | ESPEYB20

6.5. International recommendations for the diagnosis and management of patients with adrenoleukodystrophy: A consensus-based approach

M Engelen , WJC van Ballegoij , EJ Mallack , KP Van Haren , W Kohler , E Salsano , ASP van Trotsenburg , F Mochel , C Sevin , MO Regelmann , NA Tritos , A Halper , RH Lachmann , J Davison , GV Raymond , TC Lund , PJ Orchard , JS Kuehl , CA Lindemans , P Caruso , BR Turk , AB Moser , FM Vaz , S Ferdinandusse , S Kemp , A Fatemi , FS Eichler , IC Huffnagel

Brief summary: This paper describes consensus expert recommendations for the diagnosis and management of patients with Adrenoleukodystrophy.Adrenoleukodystrophy (ALD), a progressive metabolic disorder with variable and unpredictable clinical course, is caused by pathogenic variants in ABCD1 gene leading to deficient β-oxidation of saturated very-long-chain fatty acids (VLCFAs) (1, 2). Patients are asymptomatic at birth but ...