ISSN 1662-4009 (online)

ey0019.8-6 | Important for Clinical Practice | ESPEYB19

8.6. Characteristics of growth in children with classic Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency during adrenarche and beyond

T Troger , G Sommer , M Lang-Muritano , D Konrad , B Kuhlmann , U Zumsteg , CE Fluck

J Clin Endocrinol Metab. 2022; 107(2): e487-e499. PMID: 34599587https://pubmed.ncbi.nlm.nih.gov/34599587/Brief Summary: This study describes the growth of adequately treated children with classical Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency during adrenarche and beyond. Patients with and without significant bone age advancement, and thus differing height prediction...

ey0016.6-6 | New Functions of (Old) Genes | ESPEYB16

6.6. Early-onset complete ovarian failure and lack of puberty in a woman with mutated estrogen receptor [beta] (ESR2)

M Lang-Muritano , P Sproll , S Wyss , A Kolly , R Hurlimann , D Konrad , A Biason-Lauber

J Clin Endocrinol Metab. 2018 Oct 1;103(10):3748–3756.doi: 10.1210/jc.2018-00769. PubMed PMID: 30113650This case report describes a 16 year old girl with 46,XX karyotype, no pubertal development and streak gonads. The girl was 150 cm tall and had closed epiphyses and osteoporosis. Genetic investigation by whole exome sequencing showed a loss-of-function mutation i...

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...

ey0015.7-8 | Genetic architecture of hypogonadotropic hypogonadism and delayed puberty | ESPEYB15

7.8 Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures

D Cassatella , SR Howard , JS Acierno , C Xu , GE Papadakis , FA Santoni , AA Dwyer , S Santini , GP Sykiotis , C Chambion , J Meylan , L Marino , L Favre , J Li , X Liu , J Zhang , PM Bouloux , C Geyter , A Paepe , WS Dhillo , JM Ferrara , M Hauschild , M Lang-Muritano , JR Lemke , C Flück , A Nemeth , F Phan-Hug , D Pignatelli , V Popovic , S Pekic , R Quinton , G Szinnai , D l'Allemand , D Konrad , S Sharif , ÖT Iyidir , BJ Stevenson , H Yang , L Dunkel , N Pitteloud

To read the full abstract: Eur J Endocrinol. 2018 Apr;178(4):377-388[Comments on 7.7 and 7.8] Familial self-limited delayed puberty is highly heritable and has a clear genetic basis as described in the review written by Sasha Howard. Recent studies suggest that the genetic basis of self-limited delayed puberty is likely to be highly heteroge...

ey0015.10-20 | Prevention | ESPEYB15

10.20 Effect of hydrolyzed infant formula vs conventional formula on risk of T1DM. The TRIGR randomized clinical trial

Writing Group for the TRIGR Study Group , M Knip , HK Åkerblom , E Al Taji , D Becker , J Bruining , L Castano , T Danne , C de Beaufort , HM Dosch , J Dupre , WD Fraser , N Howard , J Ilonen , D Konrad , O Kordonouri , JP Krischer , ML Lawson , J Ludvigsson , L Madacsy , JL Mahon , A Ormisson , JP Palmer , P Pozzilli , E Savilahti , M Serrano-Rios , M Songini , S Taback , Vaarala , NH White , SM Virtanen , R Wasikowa

To read the full abstract: JAMA. 2018;319:38-48Earlier observational studies showed that dietary exposure to complex proteins in newborns and early infants is associated with beta cell autoimmunity and increase the risk for T1DM. Several studies avoiding certain proteins, such as gluten and casein, have been conducted without reducing the risk for T1D in genetically susceptible children. Theref...

ey0018.3-13 | Clinical studies | ESPEYB18

3.13. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

S Groeneweg , FS van Geest , A Abacı , A Alcantud , GP Ambegaonkar , CM Armour , P Bakhtiani , D Barca , ES Bertini , IM van Beynum , N Brunetti-Pierri , M Bugiani , M Cappa , G Cappuccio , B Castellotti , C Castiglioni , K Chatterjee , IFM de Coo , R Coutant , D Craiu , P Crock , C DeGoede , K Demir , A Dica , P Dimitri , A Dolcetta-Capuzzo , MHG Dremmen , R Dubey , A Enderli , J Fairchild , J Gallichan , B George , EF Gevers , A Hackenberg , Z Halasz , B Heinrich , T Huynh , A Kłosowska , MS van der Knaap , MM van der Knoop , D Konrad , DA Koolen , H Krude , A Lawson-Yuen , J Lebl , M Linder-Lucht , CF Lorea , CM Lourenco , RJ Lunsing , G Lyons , J Malikova , EE Mancilla , A McGowan , V Mericq , FM Lora , C Moran , KE Muller , I Oliver-Petit , L Paone , PG Paul , M Polak , F Porta , FO Poswar , C Reinauer , K Rozenkova , TS Menevse , P Simm , A Simon , Y Singh , M Spada , J van der Spek , MAM Stals , A Stoupa , GM Subramanian , D Tonduti , S Turan , CA den Uil , J Vanderniet , A van der Walt , JL Wemeau , J Wierzba , MY de Wit , NI Wolf , M Wurm , F Zibordi , A Zung , N Zwaveling-Soonawala , WE Visser

Lancet Diabetes Endocrinol. 2020;8:594–605. doi: 10.1016/S2213-8587(20)30153-4.Groenenweg et al. present the so far largest retrospective multicentre cohort study on 151 patients with 73 different MCT8 (SLC16A2) mutations to compare and describe in detail the phenotypic spectrum and the disease course of MCT8 deficiency. The careful description of presenting cl...