ISSN 1662-4009 (online)

ey0015.3-8 | Congenital hypothyroidism | ESPEYB15

3.8 Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted?

S Lain , C Trumpff , SD Grosse , A Olivieri , G Van Vliet

To read the full abstract: Eur J Endocrinol 2017;177:D1-D12Newborn screening (NBS) is an invaluable tool for identification of CH; however almost 70% of newborns worldwide do not benefit from NBS at all. In countries with NBS, lowering of TSH cut-offs over the years led to major controversy on the optimal TSH screening cut-off. In this very interesting debate paper, arguments are presented f...

ey0021.8-2 | Other New Mechanisms | ESPEYB21

8.2. Mitochondrial cytochrome P450 1B1 is involved in pregnenolone synthesis in human brain cells

YC Lin , G Cheung , Z Zhang , V Papadopoulos

Brief Summary: This study investigated the synthesis pathway of pregnenolone (PREG) in the central nervous system. It identified the P450 enzyme CYP1B1 to be responsible for the production of PREG in human glial cells.Comment: Steroids have important functions in the central and peripheral nervous systems, including modulation of behavior, pain, stress and inflammation. Steroids in the brain can be produced de novo, as well as transported from p...

ey0018.10-3 | (1) | ESPEYB18

10.3. Caring for children and adolescents with type 1 diabetes mellitus: Italian Society for Pediatric Endocrinology and Diabetology (ISPED) statements during COVID-19 pandemia

G d'Annunzio , C Maffeis , V Cherubini , I Rabbone , A Scaramuzza , R Schiaffini , N Minuto , G Piccolo , M Maghnie

Diabetes Res Clin Pract. 2020;168:108372. doi: 10.1016/j.diabres.2020.108372Here, the Italian Society for Pediatric Endocrinology and Diabetology carried out a literature search in Medline and Embase and also Diabetes Societies websites until May 21st, 2020 for guidelines and recommendations on T1D management during the COVID-19 pandemic. They state that there is currently no evidenc...

ey0019.3-4 | Thyroid development | ESPEYB19

3.4. Transcriptomic signature of human embryonic thyroid reveals transition from differentiation to functional maturation

G Dom , P Dmitriev , MA Lambot , Vliet G Van , D Glinoer , F Libert , A Lefort , JE Dumont , C Maenhaut

Front Cell Dev Biol. 2021 Jun 11;9:669354. doi: 10.3389/fcell.2021.669354. eCollection 2021. PMID: 34249923Brief Summary: This in vitro study analyzed the transcriptome of the developing thyroid gland in human embryonic thyroids compared to non-thyroidal human embryonic tissues and adult thyroid and adult non-thyroidal tissues. They identified four differently regulated sets of gen...

ey0017.8-4 | Important for Clinical Practice | ESPEYB17

8.4. Long-term outcome of primary bilateral macronodular adrenocortical hyperplasia after unilateral adrenalectomy

A Osswald , M Quinkler , G Di Dalmazi , T Deutschbein , G Rubinstein , K Ritzel , S Zopp , J Bertherat , F Beuschlein , M Reincke

To read the full abstract: J Clin Endocrinol Metab. 2019; 104(7): 2985–2993. PMID: 30844071.Endogenous Cushing syndrome (CS) is a severe condition characterized by excessive glucocorticoid production (1). In 20% of cases, cortisol is secreted autonomously by the adrenal cortex (2). Adrenal CS is mostly caused by unilateral cortisol-producing adrenal ad...

ey0017.9-7 | Fertility-Related Issues | ESPEYB17

9.7. Testicular Function of childhood cancer survivors: Who is worse?

Y Duca , A Di Cataldo , G Russo , E Cannata , G Burgio , M Compagnone , A Alamo , RA Condorelli , S La Vignera , AE Calogero

To read the full abstract: J Clin Med. 2019;8(12):2204. sandrolavignera@unict.itThis cross-sectional study evaluated morpho-volumetric development of the testis, endocrine function and sperm parameters in 102 young adult childhood cancer survivors (CCS). About 1/3 of patients showed low testicular volume (<24 ml); the Hodgkin disease group showed significantly lower total testicular volumes, comp...

ey0020.6-9 | New Concerns | ESPEYB20

6.9. Leukocyte telomere length in children with congenital adrenal hyperplasia

C Raftopoulou , O Abawi , G Sommer , M Binou , G Paltoglou , CE Fluck , ELT van den Akker , E Charmandari

Brief summary: This prospective observational cohort study determined leukocyte telomere length (LTL) in 76 patients with genetically confirmed CAH (83% classic CAH). LTL was shorter in patients with classic vs nonclassic CAH, in overtreated than in optimally treated patients, and patients receiving prednisolone compared with hydrocortisone.Telomeres are tandem repeats of a noncoding hexameric nucleotide sequence (5′-TTAGGG-3′) located at the...

ey0021.12-14 | Lipid Metabolism | ESPEYB21

12.14. Alirocumab in pediatric patients with heterozygous familial hypercholesterolemia: a randomized clinical trial

RD Santos , A Wiegman , S Caprio , B Cariou , M Averna , Y Poulouin , M Scemama , G Manvelian , G Garon , S Daniels

Brief Summary: This double-blind, randomized trial, showed that 2 dosing regimens of alirocumab, a human monoclonal antibody to proprotein convertase subtilisin kexin type 9 (PCSK9), reduced LDL-C in children as young as 8 years with heterozygous familial hypercholesterolemia inadequately controlled by statins. Efficacy was sustained over 2 years, and both regimens were generally well tolerated.Comment: Heterozygous familial hypercholesterolemia (HeFH) i...

ey0016.5-6 | New Insight into Rare Skeletal Disorders | ESPEYB16

5.6. Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

G Grigelioniene , HI Suzuki , F Taylan , F Mirzamohammadi , ZU Borochowitz , UM Ayturk , S Tzur , E Horemuzova , A Lindstrand , MA Weis , G Grigelionis , A Hammarsjo , E Marsk , A Nordgren , M Nordenskjold , DR Eyre , ML Warman , G Nishimura , PA Sharp , T Kobayashi

Abstract: Nat Med. 2019 Apr;25(4):583–590. PMID: 30804514In brief: This study describes the first skeletal dysplasia caused by a mutation in a microRNA that is not simply inactivating, but modifies the repertoire of target genes.Comment: MicroRNAs (miRNAs) are small (20–24 nucleotides) noncoding RNA molecules that post-transcriptio...

ey0020.7-2 | Gonadal Function and Fertility Issues in Childhood Cancer Survivors | ESPEYB20

7.2. Towards an individualized management of pubertal induction in girls with hypogonadism: insight into the best replacement outcomes from a large multicentre registry

G Rodari , S Federici , T Todisco , G Ubertini , A Cattoni , M Pagano , F Giacchetti , E Profka , V Citterio , D Messetti , V Collini , D Soranna , E Carbone , M Arosio , G Mantovani , L Persani , M Cappa , M Bonomi , C Giavoli

Brief summary: This longitudinal observational multicentre retrospective study, collected data on 95 young prepubertal or early pubertal girls (age >10.9 years, Tanner stage ≤2) with premature ovarian failure (POI) or hypogonadotropic hypogonadism (HH). Their hypogonadism was due to different causes and was treated with transdermal 17β-oestradiol, with a follow-up of at least 1 year. The study aimed to identify the most physiological and effective therapeutic sc...